Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline.

Objective To update the congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency clinical practice guideline published by the Endocrine Society in 2010. Conclusions The writing committee presents updated best practice guidelines for the clinical management of congenital adrenal hyperplasia based on published evidence and expert opinion with added considerations for patient safety, quality of life, cost, and utilization.

[1]  M. Murad,et al.  Genital Reconstructive Surgery in Females With Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis , 2018, The Journal of clinical endocrinology and metabolism.

[2]  M. Murad,et al.  Cardiovascular and Metabolic Outcomes in Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis , 2018, The Journal of clinical endocrinology and metabolism.

[3]  A. Mallappa,et al.  Longitudinal Assessment of Illnesses, Stress Dosing, and Illness Sequelae in Patients With Congenital Adrenal Hyperplasia , 2018, The Journal of clinical endocrinology and metabolism.

[4]  W. Miller,et al.  Tenascin-X, Congenital Adrenal Hyperplasia, and the CAH-X Syndrome , 2018, Hormone Research in Paediatrics.

[5]  M. Murad,et al.  Evaluation and Treatment of Hirsutism in Premenopausal Women: An Endocrine Society Clinical Practice Guideline. , 2018, The Journal of clinical endocrinology and metabolism.

[6]  C. Currie,et al.  Poor compliance and increased mortality, depression and healthcare costs in patients with congenital adrenal hyperplasia. , 2018, European journal of endocrinology.

[7]  U. Srirangalingam,et al.  Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells , 2018, Cell reports.

[8]  S. Wiegand,et al.  Absorption and tolerability of taste‐masked hydrocortisone granules in neonates, infants and children under 6 years of age with adrenal insufficiency , 2018, Clinical endocrinology.

[9]  A. Nadra,et al.  CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants , 2018, Human mutation.

[10]  M. Cain,et al.  Parental decisional regret and views about optimal timing of female genital restoration surgery in congenital adrenal hyperplasia. , 2017, Journal of pediatric urology.

[11]  A. Wood,et al.  Quantitative Brain MRI in Congenital Adrenal Hyperplasia: In Vivo Assessment of the Cognitive and Structural Impact of Steroid Hormones , 2017, The Journal of clinical endocrinology and metabolism.

[12]  H. Falhammar,et al.  Reduced Frequency of Biological and Increased Frequency of Adopted Children in Males With 21‐Hydroxylase Deficiency: A Swedish Population‐Based National Cohort Study , 2017, The Journal of clinical endocrinology and metabolism.

[13]  O. Eyal,et al.  Pregnancy in women with nonclassic congenital adrenal hyperplasia: Time to conceive and outcome , 2017, Clinical endocrinology.

[14]  W. Dondorp,et al.  Dealing with treatment and transfer requests: how PGD-professionals discuss ethical challenges arising in everyday practice , 2017, Medicine, Health Care and Philosophy.

[15]  H. Dörr,et al.  Sodium Chloride Supplementation Is Not Routinely Performed in the Majority of German and Austrian Infants with Classic Salt-Wasting Congenital Adrenal Hyperplasia and Has No Effect on Linear Growth and Hydrocortisone or Fludrocortisone Dose , 2017, Hormone Research in Paediatrics.

[16]  J. van Alfen-van der Velden,et al.  Prenatal Treatment with Dexamethasone in Suspected Congenital Adrenal Hyperplasia and Orofacial Cleft: a Case Report and Review of the Literature. , 2017, Pediatric endocrinology reviews : PER.

[17]  C. Kloft,et al.  Quality of compounded hydrocortisone capsules used in the treatment of children. , 2017, European journal of endocrinology.

[18]  M. Gardner,et al.  Interdisciplinary care in disorders/differences of sex development (DSD): The psychosocial component of the DSD—Translational research network , 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

[19]  E. McCauley Challenges in educating patients and parents about differences in sex development , 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

[20]  J. Zeng,et al.  Ovarian Adrenal Rest Tumors Undetected by Imaging Studies and Identified at Surgery in Three Females with Congenital Adrenal Hyperplasia Unresponsive to Increased Hormone Therapy Dosage , 2017, Endocrine Pathology.

[21]  A. Pulver,et al.  Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians , 2017, Genetics in Medicine.

[22]  A. Tsodikov,et al.  11-Oxygenated Androgens Are Biomarkers of Adrenal Volume and Testicular Adrenal Rest Tumors in 21-Hydroxylase Deficiency , 2017, The Journal of clinical endocrinology and metabolism.

[23]  B. Mendonca,et al.  Neonatal 17‐hydroxyprogesterone levels adjusted according to age at sample collection and birthweight improve the efficacy of congenital adrenal hyperplasia newborn screening , 2017, Clinical endocrinology.

[24]  J. Sheen,et al.  Age-Dependent Effects of Prenatal Dexamethasone Exposure on Immune Responses in Male Rats. , 2017, The Tohoku journal of experimental medicine.

[25]  D. Poppas,et al.  Urinary continence outcomes following vaginoplasty in patients with congenital adrenal hyperplasia. , 2017, Journal of pediatric urology.

[26]  S. Rechitsky,et al.  Preimplantation diagnosis and other modern methods for prenatal diagnosis , 2017, The Journal of Steroid Biochemistry and Molecular Biology.

[27]  P. Spritzer,et al.  Neonatal screening for congenital adrenal hyperplasia in Southern Brazil: a population based study with 108,409 infants , 2017, BMC Pediatrics.

[28]  Peisong Chen,et al.  Prenatal Dexamethasone Exposure Increases the Susceptibility to Autoimmunity in Offspring Rats by Epigenetic Programing of Glucocorticoid Receptor , 2016, BioMed research international.

[29]  Li-Tung Huang,et al.  Antenatal Dexamethasone Exposure in Preterm Infants Is Associated with Allergic Diseases and the Mental Development Index in Children , 2016, International journal of environmental research and public health.

[30]  Ellen K. Feder,et al.  Still ignoring human rights in intersex care. , 2016, Journal of pediatric urology.

[31]  F. Borson‐Chazot,et al.  Establishment of revised diagnostic cut-offs for adrenal laboratory investigation using the new Roche Diagnostics Elecsys® Cortisol II assay. , 2016, Annales d'endocrinologie.

[32]  A. Mallappa,et al.  A Phase 2 Study of Continuous Subcutaneous Hydrocortisone Infusion in Adults With Congenital Adrenal Hyperplasia. , 2016, The Journal of clinical endocrinology and metabolism.

[33]  M. New,et al.  Syndrome-Related Stigma in the General Social Environment as Reported by Women with Classical Congenital Adrenal Hyperplasia , 2016, Archives of Sexual Behavior.

[34]  T. Hirvikoski,et al.  Sex-Dimorphic Effects of Prenatal Treatment With Dexamethasone. , 2016, The Journal of clinical endocrinology and metabolism.

[35]  F. Ceccato,et al.  Long-term glucocorticoid effect on bone mineral density in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. , 2016, European journal of endocrinology.

[36]  Guohua Li,et al.  Association Between a Single General Anesthesia Exposure Before Age 36 Months and Neurocognitive Outcomes in Later Childhood. , 2016, JAMA.

[37]  Wei Wang,et al.  The status of neonatal screening in China, 2013 , 2016, Journal of medical screening.

[38]  G. Conway,et al.  Experience in optimizing fertility outcomes in men with congenital adrenal hyperplasia due to 21 hydroxylase deficiency , 2016, Clinical endocrinology.

[39]  M. New,et al.  Stigma in Medical Settings As Reported Retrospectively by Women With Congenital Adrenal Hyperplasia (CAH) for Their Childhood and Adolescence , 2016, Journal of pediatric psychology.

[40]  T. Giordano,et al.  Adrenal-derived 11-oxygenated 19-carbon steroids are the dominant androgens in classic 21-hydroxylase deficiency. , 2016, European journal of endocrinology.

[41]  T. Kerppola,et al.  ATR-101 disrupts mitochondrial functions in adrenocortical carcinoma cells and in vivo. , 2016, Endocrine-related cancer.

[42]  G. Hammer,et al.  ATR-101, a Selective and Potent Inhibitor of Acyl-CoA Acyltransferase 1, Induces Apoptosis in H295R Adrenocortical Cells and in the Adrenal Cortex of Dogs. , 2016, Endocrinology.

[43]  A. Beltz,et al.  Linking Prenatal Androgens to Gender-Related Attitudes, Identity, and Activities: Evidence From Girls With Congenital Adrenal Hyperplasia , 2016, Archives of Sexual Behavior.

[44]  C. François-Fiquet,et al.  Should we question early feminizing genitoplasty for patients with congenital adrenal hyperplasia and XX karyotype? , 2016, Journal of pediatric surgery.

[45]  P. Hindmarsh,et al.  Prenatal androgen exposure alters girls' responses to information indicating gender-appropriate behaviour , 2016, Philosophical Transactions of the Royal Society B: Biological Sciences.

[46]  T. Pool,et al.  Sperm retrieval and concomitant tumor resection in azoospermic men with congenital adrenal hyperplasia and bilateral testicular adrenal rest tumors: a case report , 2016, Journal of Assisted Reproduction and Genetics.

[47]  K. Roen,et al.  From Knowing Nothing to Knowing What, How and Now: Parents’ Experiences of Caring for their Children With Congenital Adrenal Hyperplasia , 2016, Journal of pediatric psychology.

[48]  H. Dörr,et al.  Blood Pressure in a Large Cohort of Children and Adolescents With Classic Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency. , 2016, American journal of hypertension.

[49]  K. Zimmer,et al.  Diagnosis of 21-hydroxylase deficiency by urinary metabolite ratios using gas chromatography–mass spectrometry analysis: Reference values for neonates and infants , 2016, The Journal of Steroid Biochemistry and Molecular Biology.

[50]  H. Dörr,et al.  Children with classic congenital adrenal hyperplasia experience salt loss and hypoglycemia: evaluation of adrenal crises during the first 6 years of life. , 2016, European journal of endocrinology.

[51]  P. Hindmarsh,et al.  Reduced short term memory in congenital adrenal hyperplasia (CAH) and its relationship to spatial and quantitative performance , 2016, Psychoneuroendocrinology.

[52]  Stefan R Bornstein,et al.  Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline. , 2016, The Journal of clinical endocrinology and metabolism.

[53]  D. Grigoriadis,et al.  Single-Dose Study of a Corticotropin-Releasing Factor Receptor-1 Antagonist in Women With 21-Hydroxylase Deficiency. , 2016, The Journal of clinical endocrinology and metabolism.

[54]  M. Hines,et al.  Gender Assignment, Reassignment and Outcome in Disorders of Sex Development: Update of the 2005 Consensus Conference , 2016, Hormone Research in Paediatrics.

[55]  T. Morio,et al.  Newborn screening for congenital adrenal hyperplasia in Tokyo, Japan from 1989 to 2013: a retrospective population-based study , 2015, BMC Pediatrics.

[56]  M. Hafez,et al.  Timing and Outcome Concerns regarding Feminizing Genitoplasty from the Perspective of Egyptian Families of Girls with Virilized External Genitalia , 2015, Hormone Research in Paediatrics.

[57]  J. Hutson,et al.  Male gender identity in children with 46,XX DSD with congenital adrenal hyperplasia after delayed presentation in mid-childhood. , 2015, Journal of pediatric surgery.

[58]  P. Oppelt,et al.  Expertsʼ Opinion on the Prenatal Therapy of Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency – Guideline of DGKED in cooperation with DGGG (S1-Level, AWMF Registry No. 174/013, July 2015) , 2015, Geburtshilfe und Frauenheilkunde.

[59]  M. Debono,et al.  Hormonal circadian rhythms in patients with congenital adrenal hyperplasia: identifying optimal monitoring times and novel disease biomarkers. , 2015, European journal of endocrinology.

[60]  R. Ferriani,et al.  Effects of two contraceptives containing drospirenone on blood pressure in normotensive women: a randomized-controlled trial , 2015, Blood pressure monitoring.

[61]  W. H. Hannon,et al.  Congenital adrenal hyperplasia cases identified by newborn screening in one- and two-screen states. , 2015, Molecular genetics and metabolism.

[62]  P. Lichtenstein,et al.  Congenital adrenal hyperplasia and risk for psychiatric disorders in girls and women born between 1915 and 2010: A total population study , 2015, Psychoneuroendocrinology.

[63]  D. Wood,et al.  Parental choice on normalising cosmetic genital surgery , 2015, BMJ : British Medical Journal.

[64]  A. Rosenwald,et al.  Mitotane Inhibits Sterol-O-Acyl Transferase 1 Triggering Lipid-Mediated Endoplasmic Reticulum Stress and Apoptosis in Adrenocortical Carcinoma Cells. , 2015, Endocrinology.

[65]  S. Holland,et al.  Cognition and Brain Structure Following Early Childhood Surgery With Anesthesia , 2015, Pediatrics.

[66]  K. Borucki,et al.  Therapy monitoring in congenital adrenal hyperplasia by dried blood samples , 2015, Journal of pediatric endocrinology & metabolism : JPEM.

[67]  G. Johannsson,et al.  MECHANISMS IN ENDOCRINOLOGY: Cushing's syndrome causes irreversible effects on the human brain: a systematic review of structural and functional magnetic resonance imaging studies. , 2015, European journal of endocrinology.

[68]  H. Dörr,et al.  Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase-Deficiency: 13 Years of Neonatal Screening and Follow-up in Bavaria , 2015, Klinische Pädiatrie.

[69]  H. Falhammar,et al.  Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: clinical presentation, diagnosis, treatment, and outcome , 2015, Endocrine.

[70]  L. Schuler‐Faccini,et al.  Ethics, genetics and public policies in Uruguay: newborn and infant screening as a paradigm , 2015, Journal of Community Genetics.

[71]  L. Guasti,et al.  New Directions for the Treatment of Adrenal Insufficiency , 2015, Front. Endocrinol..

[72]  G. Guyatt,et al.  Guideline panels should not GRADE good practice statements. , 2015, Journal of clinical epidemiology.

[73]  B. Durbin-Johnson,et al.  Congenital adrenal hyperplasia: current surgical management at academic medical centers in the United States. , 2015, The Journal of urology.

[74]  P. Hindmarsh,et al.  Variation in absorption and half‐life of hydrocortisone influence plasma cortisol concentrations , 2015, Clinical endocrinology.

[75]  R. Brundage,et al.  Comparison of cortisol exposures and pharmacodynamic adrenal steroid responses to hydrocortisone suspension vs. commercial tablets , 2015, Journal of clinical pharmacology.

[76]  Jacques Young,et al.  Clinical Outcome, Hormonal Status, Gonadotrope Axis, and Testicular Function in 219 Adult Men Born With Classic 21-Hydroxylase Deficiency. A French National Survey. , 2015, The Journal of clinical endocrinology and metabolism.

[77]  Melanie E. Peffer,et al.  Minireview: the impact of antenatal therapeutic synthetic glucocorticoids on the developing fetal brain. , 2015, Molecular endocrinology.

[78]  D. Eckland,et al.  A phase 2 study of Chronocort, a modified-release formulation of hydrocortisone, in the treatment of adults with classic congenital adrenal hyperplasia. , 2015, The Journal of clinical endocrinology and metabolism.

[79]  Yannan Jiang,et al.  Newborn screening for congenital adrenal hyperplasia in New Zealand, 1994-2013. , 2015, The Journal of clinical endocrinology and metabolism.

[80]  M. Hines,et al.  Early androgen exposure and human gender development , 2015, Biology of Sex Differences.

[81]  M. Polak,et al.  Inadequate Cortisol Response to the Tetracosactide (Synacthen®) Test in Non-Classic Congenital Adrenal Hyperplasia: An Exception to the Rule? , 2015, Hormone Research in Paediatrics.

[82]  F. Sweep,et al.  Salivary morning androstenedione and 17α-OH progesterone levels in childhood and puberty in patients with classic congenital adrenal hyperplasia , 2015, Clinical chemistry and laboratory medicine.

[83]  P. Hindmarsh,et al.  Working memory performance is reduced in children with congenital adrenal hyperplasia , 2015, Hormones and Behavior.

[84]  W. Bonfig,et al.  Blood pressure, fludrocortisone dose and plasma renin activity in children with classic congenital adrenal hyperplasia due to 21‐hydroxylase deficiency followed from birth to 4 years of age , 2014, Clinical endocrinology.

[85]  Jacques Young,et al.  Mitotane for 21-hydroxylase deficiency in an infertile man. , 2014, The New England journal of medicine.

[86]  H. Falhammar,et al.  Increased mortality in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. , 2014, The Journal of clinical endocrinology and metabolism.

[87]  M. L. Nascimento,et al.  Ten-year evaluation of a Neonatal Screening Program for congenital adrenal hyperplasia. , 2014, Arquivos brasileiros de endocrinologia e metabologia.

[88]  P. Chatelain,et al.  Late prenatal dexamethasone and phenotype variations in 46,XX CAH: concerns about current protocols and benefits for surgical procedures. , 2014, Journal of pediatric urology.

[89]  Y. Vives-Gilabert,et al.  Small cerebellar cortex volume in patients with active Cushing's syndrome. , 2014, European journal of endocrinology.

[90]  P. Hindmarsh,et al.  Increased Cross-Gender Identification Independent of Gender Role Behavior in Girls with Congenital Adrenal Hyperplasia: Results from a Standardized Assessment of 4- to 11-Year-Old Children , 2014, Archives of Sexual Behavior.

[91]  C. D. de Korte,et al.  Increased Prevalence of Testicular Adrenal Rest Tumours during Adolescence in Congenital Adrenal Hyperplasia , 2014, Hormone Research in Paediatrics.

[92]  S. Upadhyay,et al.  A-ring modified steroidal azoles retaining similar potent and slowly reversible CYP17A1 inhibition as abiraterone , 2014, The Journal of Steroid Biochemistry and Molecular Biology.

[93]  Izabel Calland Ricarte Beserra,et al.  Health related quality of life of children and adolescents with congenital adrenal hyperplasia in Brazil , 2014, Health and Quality of Life Outcomes.

[94]  A. Tamar-Mattis Patient advocate responds to DSD surgery debate. , 2014, Journal of pediatric urology.

[95]  K. Chan,et al.  Reconstructive surgery for females with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a review from the Prince of Wales Hospital. , 2014, Hong Kong medical journal = Xianggang yi xue za zhi.

[96]  S. Matthews,et al.  Glucocorticoids and fetal programming part 1: outcomes , 2014, Nature Reviews Endocrinology.

[97]  V. Milošević,et al.  Morpho-functional characteristics of rat fetal thyroid gland are affected by prenatal dexamethasone exposure , 2014, Steroids.

[98]  A. Nordenström,et al.  Nationwide neonatal screening for congenital adrenal hyperplasia in sweden: a 26-year longitudinal prospective population-based study. , 2014, JAMA pediatrics.

[99]  C. Lane,et al.  Decreased adrenomedullary function in infants with classical congenital adrenal hyperplasia. , 2014, The Journal of clinical endocrinology and metabolism.

[100]  I. Silva,et al.  A three-year follow-up of congenital adrenal hyperplasia newborn screening. , 2014, Jornal de pediatria.

[101]  D. Walker,et al.  Adrenal steroidogenesis following prenatal dexamethasone exposure in the spiny mouse. , 2014, The Journal of endocrinology.

[102]  W. Thomas,et al.  Comparison of newborn screening protocols for congenital adrenal hyperplasia in preterm infants. , 2014, The Journal of pediatrics.

[103]  G. Hammer,et al.  Abiraterone acetate to lower androgens in women with classic 21-hydroxylase deficiency. , 2014, The Journal of clinical endocrinology and metabolism.

[104]  T. Tajima,et al.  Results from 28 Years of Newborn Screening for Congenital Adrenal Hyperplasia in Sapporo , 2014, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

[105]  P. Lichtenstein,et al.  Increased psychiatric morbidity in men with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. , 2014, The Journal of clinical endocrinology and metabolism.

[106]  Peiyong Jiang,et al.  Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma. , 2014, The Journal of clinical endocrinology and metabolism.

[107]  M. Salah,et al.  Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011. , 2014, Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit.

[108]  P. Lichtenstein,et al.  Suboptimal psychosocial outcomes in patients with congenital adrenal hyperplasia: epidemiological studies in a nonbiased national cohort in Sweden. , 2014, The Journal of clinical endocrinology and metabolism.

[109]  N. Philip,et al.  New management strategy of pregnancies at risk of congenital adrenal hyperplasia using fetal sex determination in maternal serum: French cohort of 258 cases (2002-2011). , 2014, The Journal of clinical endocrinology and metabolism.

[110]  A. Bielawska,et al.  Cognitive and social function in girls with congenital adrenal hyperplasia — Influence of prenatally administered dexamethasone , 2014, Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence.

[111]  R. Auchus,et al.  Approach to the patient: the adult with congenital adrenal hyperplasia. , 2013, The Journal of clinical endocrinology and metabolism.

[112]  P. Cuckow,et al.  Current practice in feminizing surgery for congenital adrenal hyperplasia; a specialist survey. , 2013, Journal of pediatric urology.

[113]  D. Poppas,et al.  Management of adolescents with congenital adrenal hyperplasia. , 2013, The lancet. Diabetes & endocrinology.

[114]  Limei Liu,et al.  Long-Term Evaluation of Patients Undergoing Genitoplasty due to Disorders of Sex Development: Results from a 14-Year Follow-Up , 2013, TheScientificWorldJournal.

[115]  M. Järvelin,et al.  Prenatal Glucocorticoid Treatment and Later Mental Health in Children and Adolescents , 2013, PloS one.

[116]  R. González,et al.  The Surgical Correction of Urogenital Sinus in Patients with DSD: 15 Years after Description of Total Urogenital Mobilization in Children , 2013, Front. Pediatr..

[117]  P. Clayton,et al.  No evidence of an increase in early infant mortality from congenital adrenal hyperplasia in the absence of screening , 2013, Archives of Disease in Childhood.

[118]  M. Lavialle,et al.  Dexamethasone inhibits the maturation of newly formed neurons and glia supplemented with polyunsaturated fatty acids , 2013, The Journal of Steroid Biochemistry and Molecular Biology.

[119]  M. Szyf,et al.  Effects of antenatal synthetic glucocorticoid on glucocorticoid receptor binding, DNA methylation, and genome-wide mRNA levels in the fetal male hippocampus. , 2013, Endocrinology.

[120]  R. Sparrow Gender Eugenics? The Ethics of PGD for Intersex Conditions , 2013, The American journal of bioethics : AJOB.

[121]  H. Falhammar,et al.  One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study. , 2013, The lancet. Diabetes & endocrinology.

[122]  D. Sloboda,et al.  Early-life glucocorticoid exposure: the hypothalamic-pituitary-adrenal axis, placental function, and long-term disease risk. , 2013, Endocrine reviews.

[123]  F. Beuschlein,et al.  Testicular adrenal rest tumors develop independently of long-term disease control: a longitudinal analysis of 50 adult men with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency. , 2013, The Journal of clinical endocrinology and metabolism.

[124]  L. Baskin,et al.  Cortisol response to operative stress with anesthesia in healthy children. , 2013, The Journal of clinical endocrinology and metabolism.

[125]  J. Barker,et al.  Congenital adrenal hyperplasia and the second newborn screen. , 2013, The Journal of pediatrics.

[126]  C. Weisstanner,et al.  Acute Encephalopathy with Unilateral Cortical-Subcortical Lesions in Two Unrelated Kindreds Treated with Glucocorticoids Prenatally for Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Established Facts and Novel Insight , 2013, Hormone Research in Paediatrics.

[127]  J. Fernández,et al.  Newborn screening for congenital adrenal hyperplasia in Cuba: six years of experience. , 2013, Clinica chimica acta; international journal of clinical chemistry.

[128]  A. Ammini,et al.  Prenatal treatment of mothers with fetuses at risk for congenital adrenal hyperplasia: How relevant is it to Indian context? , 2013, Indian journal of endocrinology and metabolism.

[129]  W. Miller,et al.  Prenatal treatment of congenital adrenal hyperplasia: risks outweigh benefits. , 2013, American journal of obstetrics and gynecology.

[130]  R. Barrero,et al.  [Role of pediatric urologist in the treatment of congenital adrenal hyperplasia: a study of satisfaction and psychosocial aspects]. , 2013, Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia Pediatrica.

[131]  B. Walker,et al.  Quality of life in adults with congenital adrenal hyperplasia relates to glucocorticoid treatment, adiposity and insulin resistance: United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) , 2013, European journal of endocrinology.

[132]  P. Cohen-Kettenis,et al.  Severity of virilization is associated with cosmetic appearance and sexual function in women with congenital adrenal hyperplasia: a cross-sectional study. , 2013, The journal of sexual medicine.

[133]  T. Cheetham,et al.  What is the best approach to the teenage patient presenting with nonclassical Congenital adrenal hyperplasia: should we always treat with glucocorticoids? , 2013, Clinical endocrinology.

[134]  M. Jozwiakowski,et al.  Potential Risks of Pharmacy Compounding , 2013, Drugs in R&D.

[135]  M. Szyf,et al.  Glucocorticoid programming of the fetal male hippocampal epigenome. , 2013, Endocrinology.

[136]  D. Ray,et al.  Chronic glucocorticoid exposure potentiates placental chorionic plate artery constriction: implications for aberrant fetoplacental vascular resistance in fetal growth restriction. , 2013, Endocrinology.

[137]  S. Baumgartner-Parzer,et al.  Reverse-hybridization assay for rapid detection of common CYP21A2 mutations in dried blood spots from newborns with elevated 17-OH progesterone. , 2012, Clinica chimica acta; international journal of clinical chemistry.

[138]  Barry D. Lewis,et al.  Ethnic and gender differences in rates of congenital adrenal hyperplasia in Western Australia over a 21 year period , 2012, Journal of paediatrics and child health.

[139]  M. den Heijer,et al.  Impaired quality of life in patients in long-term remission of Cushing's syndrome of both adrenal and pituitary origin: a remaining effect of long-standing hypercortisolism? , 2012, European journal of endocrinology.

[140]  W. Thomas,et al.  Comparison of One-Tier and Two-Tier Newborn Screening Metrics for Congenital Adrenal Hyperplasia , 2012, Pediatrics.

[141]  J. Seckl,et al.  Antenatal glucocorticoid treatment: are we doing harm to term babies? , 2012, The Journal of clinical endocrinology and metabolism.

[142]  T. Yuen,et al.  An Update on Prenatal Diagnosis and Treatment of Congenital Adrenal Hyperplasia , 2012, Seminars in Reproductive Medicine.

[143]  M. Nishitani,et al.  Clinical characteristics of a cohort of 244 patients with congenital adrenal hyperplasia. , 2012, The Journal of clinical endocrinology and metabolism.

[144]  J. Segars,et al.  Use of PET/CT with cosyntropin stimulation to identify and localize adrenal rest tissue following adrenalectomy in a woman with congenital adrenal hyperplasia. , 2012, The Journal of clinical endocrinology and metabolism.

[145]  C. Kirschbaum,et al.  Impact of antenatal synthetic glucocorticoid exposure on endocrine stress reactivity in term-born children. , 2012, The Journal of clinical endocrinology and metabolism.

[146]  N. Frydman,et al.  Dexamethasone induces germ cell apoptosis in the human fetal ovary. , 2012, The Journal of clinical endocrinology and metabolism.

[147]  G. Johannsson,et al.  Long-term cognitive impairments and attentional deficits in patients with Cushing's disease and cortisol-producing adrenal adenoma in remission. , 2012, The Journal of clinical endocrinology and metabolism.

[148]  M. New,et al.  Cognitive outcome of offspring from dexamethasone-treated pregnancies at risk for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. , 2012, European journal of endocrinology.

[149]  F. Beuschlein,et al.  Frequency and causes of adrenal crises over lifetime in patients with 21-hydroxylase deficiency. , 2012, European journal of endocrinology.

[150]  J. Francis,et al.  Antenatal Glucocorticoid Exposure and Long-Term Alterations in Aortic Function and Glucose Metabolism , 2012, Pediatrics.

[151]  U. Steuerwald,et al.  Neonatal Screening: Identification of Children with 11β-Hydroxylase Deficiency by Second-Tier Testing , 2012, Hormone Research in Paediatrics.

[152]  T. Hirvikoski,et al.  Prenatal dexamethasone treatment of children at risk for congenital adrenal hyperplasia: the Swedish experience and standpoint. , 2012, The Journal of clinical endocrinology and metabolism.

[153]  S. Oberfield,et al.  Recommendations for treatment of nonclassic congenital adrenal hyperplasia (NCCAH): An update , 2012, Steroids.

[154]  V. Jayanthi,et al.  Surgical treatment of high urogenital sinuses using the anterior sagittal transrectal approach: a useful strategy to optimize exposure and outcomes. , 2012, The Journal of urology.

[155]  Z. Hochberg,et al.  Increased activation of the alternative "backdoor" pathway in patients with 21-hydroxylase deficiency: evidence from urinary steroid hormone analysis. , 2012, The Journal of clinical endocrinology and metabolism.

[156]  J. Coste,et al.  Efficiency of neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency in children born in mainland France between 1996 and 2003. , 2012, Archives of pediatrics & adolescent medicine.

[157]  B. Otten,et al.  Physical, social and societal functioning of children with congenital adrenal hyperplasia (CAH) and their parents, in a Dutch population , 2012, International Journal of Pediatric Endocrinology.

[158]  M. Portella,et al.  Verbal and visual memory performance and hippocampal volumes, measured by 3-Tesla magnetic resonance imaging, in patients with Cushing's syndrome. , 2012, The Journal of clinical endocrinology and metabolism.

[159]  P. Hindmarsh,et al.  Incidence and clinical features of congenital adrenal hyperplasia in Great Britain , 2012, Archives of Disease in Childhood.

[160]  D. Matern,et al.  Lessons learned from 5 years of newborn screening for congenital adrenal hyperplasia in the Czech Republic: 17-hydroxyprogesterone, genotypes, and screening performance , 2012, European Journal of Pediatrics.

[161]  H. Falhammar,et al.  Fertility, sexuality and testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia , 2011, European journal of endocrinology.

[162]  J. Svartberg,et al.  High frequency of adrenal myelolipomas and testicular adrenal rest tumours in adult Norwegian patients with classical congenital adrenal hyperplasia because of 21‐hydroxylase deficiency , 2011, Clinical endocrinology.

[163]  O. Paulson,et al.  Exogenous glucocorticoids and adverse cerebral effects in children. , 2011, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[164]  H. Meyer-Bahlburg Gender monitoring and gender reassignment of children and adolescents with a somatic disorder of sex development. , 2011, Child and adolescent psychiatric clinics of North America.

[165]  D. DeFranco,et al.  Nongenomic glucocorticoid receptor action regulates gap junction intercellular communication and neural progenitor cell proliferation , 2011, Proceedings of the National Academy of Sciences.

[166]  J. Vieira,et al.  Zona fasciculata 21-hydroxysteroids and precursor-to-product ratios in 21-hydroxylase deficiency: Further characterization of classic and non-classic patients and heterozygote carriers , 2011, Journal of endocrinological investigation.

[167]  T. Hirvikoski,et al.  Gender role behaviour in prenatally dexamethasone‐treated children at risk for congenital adrenal hyperplasia – a pilot study , 2011, Acta paediatrica.

[168]  L. Chitty,et al.  Non‐invasive prenatal determination of fetal sex: translating research into clinical practice , 2011, Clinical genetics.

[169]  N. McDonnell,et al.  Phenotypic profiling of parents with cryptic nonclassic congenital adrenal hyperplasia: findings in 145 unrelated families. , 2011, European journal of endocrinology.

[170]  Arturo Molina,et al.  Abiraterone and increased survival in metastatic prostate cancer. , 2011, The New England journal of medicine.

[171]  P. Miettinen,et al.  Sexual function and attitudes toward surgery after feminizing genitoplasty. , 2011, The Journal of urology.

[172]  N. McDonnell,et al.  Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. , 2011, The Journal of clinical endocrinology and metabolism.

[173]  G. Guyatt,et al.  GRADE guidelines: 1. Introduction-GRADE evidence profiles and summary of findings tables. , 2011, Journal of clinical epidemiology.

[174]  J. Seckl,et al.  Glucocorticoids, prenatal stress and the programming of disease , 2011, Hormones and Behavior.

[175]  F. Beuschlein,et al.  Quality of life is less impaired in adults with congenital adrenal hyperplasia because of 21‐hydroxylase deficiency than in patients with primary adrenal insufficiency , 2011, Clinical endocrinology.

[176]  W. H. Hannon,et al.  Pilot proficiency testing study for second tier congenital adrenal hyperplasia newborn screening. , 2010, Clinica chimica acta; international journal of clinical chemistry.

[177]  Peter A. Lee,et al.  Should male gender assignment be considered in the markedly virilized patient With 46,XX and congenital adrenal hyperplasia? , 2010, The Journal of urology.

[178]  V. Montori,et al.  Prenatal dexamethasone use for the prevention of virilization in pregnancies at risk for classical congenital adrenal hyperplasia because of 21‐hydroxylase (CYP21A2) deficiency: a systematic review and meta‐analyses , 2010, Clinical endocrinology.

[179]  V. Montori,et al.  Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. , 2010, The Journal of clinical endocrinology and metabolism.

[180]  V. Montori,et al.  Clinical review: Adult height in patients with congenital adrenal hyperplasia: a systematic review and metaanalysis. , 2010, The Journal of clinical endocrinology and metabolism.

[181]  J. Connell,et al.  Health Status of Adults with Congenital Adrenal Hyperplasia: A Cohort Study of 203 Patients , 2010, The Journal of clinical endocrinology and metabolism.

[182]  J. Romijn,et al.  Increased prevalence of psychopathology and maladaptive personality traits after long-term cure of Cushing's disease. , 2010, The Journal of clinical endocrinology and metabolism.

[183]  T. O'Connor,et al.  Maternal Prenatal Cortisol and Infant Cognitive Development: Moderation by Infant–Mother Attachment , 2010, Biological Psychiatry.

[184]  J. Romijn,et al.  Subtle cognitive impairments in patients with long-term cure of Cushing's disease. , 2010, The Journal of clinical endocrinology and metabolism.

[185]  D. Goldsher,et al.  Ovarian Adrenal Rest Tumor in a Congenital Adrenal Hyperplasia Patient with Adrenocorticotropin Hypersecretion following Adrenalectomy , 2010, Hormone Research in Paediatrics.

[186]  C. Brain,et al.  Holistic management of DSD , 2010, Best practice & research. Clinical endocrinology & metabolism.

[187]  L. Nieman,et al.  A pharmacokinetic and pharmacodynamic study of delayed‐ and extended‐release hydrocortisone (ChronocortTM) vs. conventional hydrocortisone (CortefTM) in the treatment of congenital adrenal hyperplasia , 2010, Clinical endocrinology.

[188]  B. Walker,et al.  Prenatal dexamethasone programs expression of genes in liver and adipose tissue and increased hepatic lipid accumulation but not obesity on a high-fat diet. , 2010, Endocrinology.

[189]  J. Golmard,et al.  Fertility in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. , 2010, The Journal of clinical endocrinology and metabolism.

[190]  E. Silveira,et al.  Molecular analysis of CYP21A2 can optimize the follow‐up of positive results in newborn screening for congenital adrenal hyperplasia , 2009, Clinical genetics.

[191]  K. Stingl,et al.  Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Croatia between 1995 and 2006 , 2009, Hormone Research in Paediatrics.

[192]  P. Pagel,et al.  Hydrocortisone dosing during puberty in patients with classical congenital adrenal hyperplasia: an evidence-based recommendation. , 2009, The Journal of clinical endocrinology and metabolism.

[193]  M. Lombès,et al.  Low renal mineralocorticoid receptor expression at birth contributes to partial aldosterone resistance in neonates. , 2009, Endocrinology.

[194]  H. Falhammar,et al.  Gender role behavior, sexuality, and psychosocial adaptation in women with congenital adrenal hyperplasia due to CYP21A2 deficiency. , 2009, The Journal of clinical endocrinology and metabolism.

[195]  P. White Neonatal screening for congenital adrenal hyperplasia , 2009, Nature Reviews Endocrinology.

[196]  P. Hindmarsh,et al.  Management of altered hydrocortisone pharmacokinetics in a boy with congenital adrenal hyperplasia using a continuous subcutaneous hydrocortisone infusion. , 2009, The Journal of clinical endocrinology and metabolism.

[197]  V. Tardy,et al.  Precocious pubarche: distinguishing late-onset congenital adrenal hyperplasia from premature adrenarche. , 2009, The Journal of clinical endocrinology and metabolism.

[198]  N. Longo,et al.  Use of Steroid Profiling by UPLC-MS/MS as a Second Tier Test in Newborn Screening for Congenital Adrenal Hyperplasia: The Utah Experience , 2009, Pediatric Research.

[199]  E. Davis,et al.  Effect of prenatal glucocorticoid treatment on size at birth among infants born at term gestation , 2009, Journal of Perinatology.

[200]  G. Conway,et al.  Reassessing fecundity in women with classical congenital adrenal hyperplasia (CAH): normal pregnancy rate but reduced fertility rate , 2009, Clinical endocrinology.

[201]  F. Beuschlein,et al.  High prevalence of reduced fecundity in men with congenital adrenal hyperplasia. , 2009, The Journal of clinical endocrinology and metabolism.

[202]  J. Golmard,et al.  Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members. , 2009, The Journal of clinical endocrinology and metabolism.

[203]  M. Debono,et al.  Modified-release hydrocortisone to provide circadian cortisol profiles. , 2009, The Journal of clinical endocrinology and metabolism.

[204]  T. To,et al.  Antenatal Steroid Therapy for Fetal Lung Maturation: Is There an Association with Childhood Asthma? , 2009, The Journal of asthma : official journal of the Association for the Care of Asthma.

[205]  Z. Hochberg,et al.  Control of childhood congenital adrenal hyperplasia and sleep activity and quality with morning or evening glucocorticoid therapy. , 2008, The Journal of clinical endocrinology and metabolism.

[206]  H. Dörr,et al.  Does an altered leptin axis play a role in obesity among children and adolescents with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency? , 2008, European journal of endocrinology.

[207]  J. Schouten,et al.  Multiplex ligation-dependent probe amplification technique for copy number analysis on small amounts of DNA material. , 2008, Analytical chemistry.

[208]  E. Elliott,et al.  Two‐year pilot study of newborn screening for congenital adrenal hyperlasia in New South Wales compared with nationwide case surveillance in Australia , 2008, Journal of paediatrics and child health.

[209]  M. Hsieh,et al.  3-dimensional neuroanatomy of the human fetal pelvis: anatomical support for partial urogenital mobilization in the treatment of urogenital sinus. , 2008, The Journal of urology.

[210]  M. Podestá,et al.  Perineal mobilization of the common urogenital sinus for surgical correction of high urethrovaginal confluence in patients with intersex disorders. , 2008, Journal of pediatric urology.

[211]  Byung-Kwang Yoo,et al.  The Cost Effectiveness of Screening Newborns for Congenital Adrenal Hyperplasia , 2008, Public Health Genomics.

[212]  H. Meyer-Bahlburg Treatment guidelines for children with disorders of sex development , 2008 .

[213]  T. Hirvikoski,et al.  Long-term follow-up of prenatally treated children at risk for congenital adrenal hyperplasia: does dexamethasone cause behavioural problems? , 2008, European journal of endocrinology.

[214]  H. Falhammar,et al.  Fertility and pregnancy outcome in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. , 2008, Human reproduction.

[215]  M. Polak,et al.  Impact of total cumulative glucocorticoid dose on bone mineral density in patients with 21-hydroxylase deficiency. , 2008, European journal of endocrinology.

[216]  G. Guyatt,et al.  GRADE: an emerging consensus on rating quality of evidence and strength of recommendations , 2008, BMJ : British Medical Journal.

[217]  M. New,et al.  Sexual Orientation in Women with Classical or Non-classical Congenital Adrenal Hyperplasia as a Function of Degree of Prenatal Androgen Excess , 2008, Archives of sexual behavior.

[218]  G. Conway,et al.  Sexual function and genital sensitivity following feminizing genitoplasty for congenital adrenal hyperplasia. , 2008, The Journal of urology.

[219]  H. Falhammar,et al.  Type of mutation and surgical procedure affect long-term quality of life for women with congenital adrenal hyperplasia. , 2008, The Journal of clinical endocrinology and metabolism.

[220]  H. Falhammar,et al.  Fractures and bone mineral density in adult women with 21-hydroxylase deficiency. , 2007, The Journal of clinical endocrinology and metabolism.

[221]  M. Lagos,et al.  Testicular adrenal rest tumors and Leydig and Sertoli cell function in boys with classical congenital adrenal hyperplasia. , 2007, The Journal of clinical endocrinology and metabolism.

[222]  G. Shaw,et al.  Maternal corticosteroid use and orofacial clefts. , 2007, American journal of obstetrics and gynecology.

[223]  G. Conway Congenital Adrenal Hyperplasia: Adolescence and Transition , 2007, Hormone Research in Paediatrics.

[224]  F. Malone,et al.  Long-term outcomes after repeat doses of antenatal corticosteroids. , 2007, The New England journal of medicine.

[225]  D. Merke,et al.  Patients with classic congenital adrenal hyperplasia have decreased epinephrine reserve and defective glycemic control during prolonged moderate-intensity exercise. , 2007, The Journal of clinical endocrinology and metabolism.

[226]  P. Rinaldo,et al.  Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: The Mayo Clinic experience (2004–2007) , 2007, Journal of Inherited Metabolic Disease.

[227]  Hussein Al-Maghribi Congenital adrenal hyperplasia: problems with developmental anomalies of the external genitalia and sex assignment. , 2007, Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia.

[228]  F. Petraglia,et al.  Evaluation of effects of an oral contraceptive containing ethinylestradiol combined with drospirenone on adrenal steroidogenesis in hyperandrogenic women with polycystic ovary syndrome. , 2007, Fertility and sterility.

[229]  U. Steuerwald,et al.  Newborn screening for congenital adrenal hyperplasia: additional steroid profile using liquid chromatography-tandem mass spectrometry. , 2007, The Journal of clinical endocrinology and metabolism.

[230]  N. Sonino,et al.  The role of 21-hydroxylase in the pathogenesis of adrenal masses: Review of the literature and focus on our own experience , 2007, Journal of endocrinological investigation.

[231]  W. Bonfig,et al.  Reduced final height outcome in congenital adrenal hyperplasia under prednisone treatment: deceleration of growth velocity during puberty. , 2007, The Journal of clinical endocrinology and metabolism.

[232]  T. Hirvikoski,et al.  Cognitive functions in children at risk for congenital adrenal hyperplasia treated prenatally with dexamethasone , 2007 .

[233]  N. Krone,et al.  Congenital adrenal hyperplasia and P450 oxidoreductase deficiency , 2007, Clinical endocrinology.

[234]  F. Sweep,et al.  Testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia: evaluation of pituitary-gonadal function before and after successful testis-sparing surgery in eight patients. , 2007, The Journal of clinical endocrinology and metabolism.

[235]  V. Rohmer,et al.  Reproductive outcome of women with 21-hydroxylase-deficient nonclassic adrenal hyperplasia. , 2007, The Journal of clinical endocrinology and metabolism.

[236]  S. Grosse,et al.  How Many Deaths Can Be Prevented by Newborn Screening for Congenital Adrenal Hyperplasia? , 2007, Hormone Research in Paediatrics.

[237]  K. Main,et al.  Quality of life in 70 women with disorders of sex development. , 2006, European journal of endocrinology.

[238]  K. Meldrum,et al.  Use of the mobilized sinus with total urogenital mobilization. , 2006, The Journal of urology.

[239]  F. Waldhauser,et al.  Prevalence of congenital adrenal hyperplasia among sudden infant death in the Czech Republic and Austria , 2006, European Journal of Pediatrics.

[240]  M. New,et al.  Gender Development in Women with Congenital Adrenal Hyperplasia as a Function of Disorder Severity , 2006, Archives of sexual behavior.

[241]  G. Tucker,et al.  Circadian hydrocortisone infusions in patients with adrenal insufficiency and congenital adrenal hyperplasia , 2006, Clinical endocrinology.

[242]  M. Rauh,et al.  Automated, fast and sensitive quantification of 17α-hydroxy-progesterone, androstenedione and testosterone by tandem mass spectrometry with on-line extraction , 2006, Steroids.

[243]  Daniel Cameron,et al.  Main Report , 2006, Genetics in Medicine.

[244]  Aaron E. Carroll,et al.  Comprehensive Cost-Utility Analysis of Newborn Screening Strategies , 2006, Pediatrics.

[245]  P. A. Lee,et al.  Consensus statement on management of intersex disorders , 2006, Archives of Disease in Childhood.

[246]  David I. Wilson,et al.  In humans, early cortisol biosynthesis provides a mechanism to safeguard female sexual development. , 2006, The Journal of clinical investigation.

[247]  J. Dötsch,et al.  Absence of exercise-induced leptin suppression associated with insufficient epinephrine reserve in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. , 2006, Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association.

[248]  G. Conway,et al.  Outcome of bilateral adrenalectomy in congenital adrenal hyperplasia: one unit's experience. , 2006, European journal of endocrinology.

[249]  H. Dörr,et al.  Obesity Among Children and Adolescents With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency , 2006, Pediatrics.

[250]  D. Allen,et al.  Newborn screening for congenital adrenal hyperplasia has reduced sensitivity in girls. , 2005, The Journal of pediatrics.

[251]  F. Slijper,et al.  Gender Dysphoria and Gender Change in Chromosomal Females with Congenital Adrenal Hyperplasia , 2005, Archives of sexual behavior.

[252]  J. Wit,et al.  Cutoff levels of 17-alpha-hydroxyprogesterone in neonatal screening for congenital adrenal hyperplasia should be based on gestational age rather than on birth weight. , 2005, The Journal of clinical endocrinology and metabolism.

[253]  J. Popović,et al.  Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. , 2005, Journal for specialists in pediatric nursing : JSPN.

[254]  M. Cain,et al.  Upper and lower urinary tract outcome after surgical repair of cloacal malformations: a three‐decade experience , 2005, BJU international.

[255]  M. Vogiatzi,et al.  Treatment with growth hormone and luteinizing hormone releasing hormone analog improves final adult height in children with congenital adrenal hyperplasia. , 2005, The Journal of clinical endocrinology and metabolism.

[256]  A. Rodgers,et al.  Cardiovascular risk factors after antenatal exposure to betamethasone: 30-year follow-up of a randomised controlled trial , 2005, The Lancet.

[257]  H. Dörr,et al.  Rapid second-tier molecular genetic analysis for congenital adrenal hyperplasia attributable to steroid 21-hydroxylase deficiency. , 2005, Clinical chemistry.

[258]  M. Coleman,et al.  Female Preponderance in Congenital Adrenal Hyperplasia due to CYP21 Deficiency in England: Implications for Neonatal Screening , 2005, Hormone Research in Paediatrics.

[259]  J. Wit,et al.  Neonatal screening for congenital adrenal hyperplasia. , 2004, European journal of endocrinology.

[260]  D. Bonneau,et al.  Effect of Single and Multiple Courses of Prenatal Corticosteroids on 17-Hydroxyprogesterone Levels: Implication for Neonatal Screening of Congenital Adrenal Hyperplasia , 2004, Pediatric Research.

[261]  J. Seckl Prenatal glucocorticoids and long-term programming. , 2004, European journal of endocrinology.

[262]  Peter A. Lee,et al.  Medical treatment of intersex: parental perspectives. , 2004, The Journal of urology.

[263]  D. Chace,et al.  Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia. , 2004, The Journal of clinical endocrinology and metabolism.

[264]  George P Chrousos,et al.  Stress dose of hydrocortisone is not beneficial in patients with classic congenital adrenal hyperplasia undergoing short-term, high-intensity exercise. , 2004, The Journal of clinical endocrinology and metabolism.

[265]  N. Krone,et al.  Congenital adrenal hyperplasia - how to improve the transition from adolescence to adult life. , 2004, Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association.

[266]  A. Wisniewski,et al.  Psychosexual outcome in women affected by congenital adrenal hyperplasia due to 21-hydroxylase deficiency. , 2004, The Journal of urology.

[267]  B. Casetta,et al.  Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry. , 2004, Clinical chemistry.

[268]  I. Hughes Congenital adrenal hyperplasia: transitional care. , 2004, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

[269]  G. Chrousos,et al.  Patients with classic congenital adrenal hyperplasia have decreased epinephrine reserve and defective glucose elevation in response to high-intensity exercise. , 2004, The Journal of clinical endocrinology and metabolism.

[270]  Bernhard Liebl,et al.  Screening for congenital adrenal hyperplasia: adjustment of 17-hydroxyprogesterone cut-off values to both age and birth weight markedly improves the predictive value. , 2003, The Journal of clinical endocrinology and metabolism.

[271]  F. Baronio,et al.  CYP21 genotype, adult height, and pubertal development in 55 patients treated for 21-hydroxylase deficiency. , 2003, The Journal of clinical endocrinology and metabolism.

[272]  G. Palù,et al.  Prevalence and natural history of adrenal incidentalomas. , 2003, European journal of endocrinology.

[273]  C. Polychronakos,et al.  Prednisolone in the treatment of adrenal insufficiency: a re-evaluation of relative potency. , 2003, The Journal of pediatrics.

[274]  M. Bettendorf,et al.  Growth Analysis in Patients with 21-Hydroxylase Deficiency Influence of Glucocorticoid Dosage, Age at Diagnosis, Phenotype and Genotype on Growth and Height Outcome , 2003, Hormone Research in Paediatrics.

[275]  J. V. Van Wyk,et al.  The role of bilateral adrenalectomy in the treatment of congenital adrenal hyperplasia. , 2003, The Journal of clinical endocrinology and metabolism.

[276]  M. Garami,et al.  Limited value of serum steroid measurements in identification of mild form of 21-hydroxylase deficiency. , 2003, Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association.

[277]  W. Miller,et al.  Consensus Statement on 21-Hydroxylase Deficiency from The European Society for Paediatric Endocrinology and The Lawson Wilkins Pediatric Endocrine Society , 2002, Hormone Research in Paediatrics.

[278]  W. Sippell,et al.  Management of Congenital Adrenal Hyperplasia: Results of the ESPE Questionnaire , 2002, Hormone Research in Paediatrics.

[279]  Kenneth L. Jones,et al.  The diagnosis of congenital adrenal hyperplasia in the newborn by gas chromatography/mass spectrometry analysis of random urine specimens. , 2002, The Journal of clinical endocrinology and metabolism.

[280]  M. Jansen,et al.  Longitudinal analysis of growth and puberty in 21-hydroxylase deficiency patients , 2002, Archives of disease in childhood.

[281]  J. Jarow Long term outcome in adult males with classic congenital adrenal hyperplasia. , 2002, The Journal of urology.

[282]  Jianwei Wang,et al.  Using real-time, quantitative PCR for rapid genotyping of the steroid 21-hydroxylase gene in a north Florida population. , 2002, The Journal of clinical endocrinology and metabolism.

[283]  C. Sweep,et al.  High prevalence of testicular adrenal rest tumors, impaired spermatogenesis, and Leydig cell failure in adolescent and adult males with congenital adrenal hyperplasia. , 2001, The Journal of clinical endocrinology and metabolism.

[284]  C. Noordam,et al.  Newborn screening for congenital adrenal hyperplasia in the Netherlands. , 2001, Pediatrics.

[285]  J. Garcia‐Heras,et al.  Reverse Dot-blot Hybridization as an Improved Tool for the Molecular Diagnosis of Point Mutations in Congenital Adrenal Hyperplasia Caused by 21-Hydroxylase Deficiency , 2001, Molecular Diagnosis.

[286]  N. Leslie,et al.  Antenatal corticosteroids and newborn screening for congenital adrenal hyperplasia. , 2001, Archives of pediatrics & adolescent medicine.

[287]  P. Hindmarsh,et al.  Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: alterations in cortisol pharmacokinetics at puberty. , 2001, The Journal of clinical endocrinology and metabolism.

[288]  M. Vogiatzi,et al.  Growth hormone therapy alone or in combination with gonadotropin-releasing hormone analog therapy to improve the height deficit in children with congenital adrenal hyperplasia. , 2001, The Journal of clinical endocrinology and metabolism.

[289]  B. Therrell Newborn screening for congenital adrenal hyperplasia. , 2001, Endocrinology and metabolism clinics of North America.

[290]  G. Chrousos,et al.  Adrenomedullary dysplasia and hypofunction in patients with classic 21-hydroxylase deficiency. , 2000, The New England journal of medicine.

[291]  S. Rivkees,et al.  Dexamethasone Treatment of Virilizing Congenital Adrenal Hyperplasia: The Ability to Achieve Normal Growth , 2000, Pediatrics.

[292]  A. Varan,et al.  Adrenocortical carcinoma associated with adrenogenital syndrome in a child. , 2000, Medical and pediatric oncology.

[293]  Balsamo,et al.  CYP21 analysis and phenotype/genotype relationship in the screened population of the Italian Emilia–Romagna region , 2000, Clinical endocrinology.

[294]  B. Mendonca,et al.  Influence of different genotypes on 17‐hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21‐hydroxylase deficiency , 2000, Clinical endocrinology.

[295]  A. Braun,et al.  Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany. , 2000, The Journal of clinical endocrinology and metabolism.

[296]  D. Merke,et al.  Flutamide, testolactone, and reduced hydrocortisone dose maintain normal growth velocity and bone maturation despite elevated androgen levels in children with congenital adrenal hyperplasia. , 2000, The Journal of clinical endocrinology and metabolism.

[297]  R. Voutilainen,et al.  Long‐term outcome of classical 21‐hydroxylase deficiency: diagnosis, complications and quality of life , 2000, Acta paediatrica.

[298]  P. Brosnan,et al.  Effect of newborn screening for congenital adrenal hyperplasia. , 1999, Archives of pediatrics & adolescent medicine.

[299]  R. Azziz,et al.  Screening for 21-hydroxylase-deficient nonclassic adrenal hyperplasia among hyperandrogenic women: a prospective study. , 1999, Fertility and sterility.

[300]  S. Bornstein,et al.  Restoration of adrenal steroidogenesis by adenovirus-mediated transfer of human cytochromeP450 21-hydroxylase into the adrenal gland of21-hydroxylase-deficient mice , 1999, Gene Therapy.

[301]  L. Baskin,et al.  Anatomical studies of the human clitoris. , 1999, The Journal of urology.

[302]  A. Nordenström,et al.  Genotyping is a valuable diagnostic complement to neonatal screening for congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. , 1999, The Journal of clinical endocrinology and metabolism.

[303]  T. R. Welch,et al.  Modular Variations of the Human Major Histocompatibility Complex Class III Genes for Serine/Threonine Kinase RP, Complement Component C4, Steroid 21-Hydroxylase CYP21, and Tenascin TNX (the RCCX Module) , 1999, The Journal of Biological Chemistry.

[304]  N. Dixit,et al.  Genotyping of CYP21, linked chromosome 6p markers, and a sex-specific gene in neonatal screening for congenital adrenal hyperplasia. , 1999, The Journal of clinical endocrinology and metabolism.

[305]  J. Tyrrell,et al.  Normal female infants born of mothers with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. , 1999, The Journal of clinical endocrinology and metabolism.

[306]  R. Clayton,et al.  Comparison of the low dose short synacthen test (1 microg), the conventional dose short synacthen test (250 microg), and the insulin tolerance test for assessment of the hypothalamo-pituitary-adrenal axis in patients with pituitary disease. , 1999, The Journal of clinical endocrinology and metabolism.

[307]  S. Rivkees,et al.  Home monitoring of 17 hydroxyprogesterone levels in congenitx127drenal hyperplasia with filter paper blood samples. , 1999, The Journal of pediatrics.

[308]  P. White,et al.  Congenital adrenal hyperplasia due to steroid 21‐hydroxylase deficiency , 1998, Clinical endocrinology.

[309]  D J Barker,et al.  In utero programming of chronic disease. , 1998, Clinical science.

[310]  S. Berenbaum,et al.  Results of Screening 1.9 Million Texas Newborns for 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia , 1998, Pediatrics.

[311]  A. Nordenström,et al.  Benefits of Neonatal Screening for Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency) in Sweden , 1998, Pediatrics.

[312]  P. Hindmarsh,et al.  Obesity in 21-hydroxylase deficient patients , 1998, Archives of disease in childhood.

[313]  J. Winter,et al.  The effects of glucocorticoid replacement therapy on growth, bone mineral density, and bone turnover markers in children with congenital adrenal hyperplasia. , 1997, The Journal of clinical endocrinology and metabolism.

[314]  S. Nomura Immature adrenal steroidogenesis in preterm infants. , 1997, Early human development.

[315]  J. Dausset,et al.  Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic women , 1997, Human Genetics.

[316]  L. Ibáñez,et al.  Bone mineral density in prepubertal and in adolescent and young adult patients with the salt-wasting form of congenital adrenal hyperplasia. , 1997, Pediatrics.

[317]  M. Diamond,et al.  Management of Intersexuality: Guidelines for Dealing With Persons With Ambiguous Genitalia , 1997 .

[318]  S. Pang,et al.  Current status of neonatal screening for congenital adrenal hyperplasia. , 1997, Current opinion in pediatrics.

[319]  M. Bullinger,et al.  Outcome of congenital adrenal hyperplasia , 1997, Pediatric Surgery International.

[320]  J. Seckl,et al.  How safe is long-term prenatal glucocorticoid treatment? , 1997, JAMA.

[321]  E. Sprecher,et al.  Non-classical 21-hydroxylase deficiency in infancy and childhood: the effect of time of initiation of therapy on puberty and final height. , 1997, European journal of endocrinology.

[322]  A. Peña Total urogenital mobilization--an easier way to repair cloacas. , 1997, Journal of pediatric surgery.

[323]  D. Merke,et al.  A preliminary study of flutamide, testolactone, and reduced hydrocortisone dose in the treatment of congenital adrenal hyperplasia. , 1996, The Journal of clinical endocrinology and metabolism.

[324]  E. Cacciari,et al.  Congenital adrenal hyperplasia: neonatal mass screening compared with clinical diagnosis only in the Emilia-Romagna region of Italy, 1980-1995. , 1996, Pediatrics.

[325]  U. Stenman,et al.  Serum Cortisol, Dehydroepiandrosterone Sulfate, and Steroid-Binding Globulins in Preterm Neonates: Effect of Gestational Age and Dexamethasone Therapy , 1996, Pediatric Research.

[326]  M. Bullinger,et al.  The quality of life in adult female patients with congenital adrenal hyperplasia: A comprehensive study of the impact of genital malformations and chronic disease on female patients life , 1996, European Journal of Pediatrics.

[327]  S. Mora,et al.  Bone density in young patients with congenital adrenal hyperplasia. , 1996, Bone.

[328]  M. New,et al.  Steroid 21-hydroxylase deficiency: genotype may not predict phenotype. , 1995, The Journal of clinical endocrinology and metabolism.

[329]  C. Cronin,et al.  Reference ranges for serum cortisol and 17-hydroxyprogesterone levels in preterm infants. , 1995, The Journal of pediatrics.

[330]  H. Luthman,et al.  Mutational Spectrum of the Steroid 21-Hydroxylase Gene In Sweden: Implications for Genetic Diagnosis and Association With Disease Manifestation , 1994 .

[331]  N. Karidis,et al.  Congenital Adrenal Hyperplasia Complicated by Central Precocious Puberty: Treatment with LHRH‐Agonist Analogue , 1993, Annals of the New York Academy of Sciences.

[332]  G. Ellis,et al.  Identification of the steroids in neonatal plasma that interfere with 17 alpha-hydroxyprogesterone radioimmunoassays. , 1992, Clinical chemistry.

[333]  H. Luthman,et al.  Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations. , 1992, Proceedings of the National Academy of Sciences of the United States of America.

[334]  M. Tusié-Luna,et al.  Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. , 1992, The Journal of clinical investigation.

[335]  R. Schlaghecke,et al.  Adrenal incidentaloma and patients with homozygous or heterozygous congenital adrenal hyperplasia. , 1992, The Journal of clinical endocrinology and metabolism.

[336]  R. Nass,et al.  Learning Disabilities in Children With Congenital Adrenal Hyperplasia , 1991, Journal of child neurology.

[337]  M. Tusié-Luna,et al.  Determination of functional effects of mutations in the steroid 21-hydroxylase gene (CYP21) using recombinant vaccinia virus. , 1990, The Journal of biological chemistry.

[338]  P. Hindmarsh,et al.  Sodium chloride supplement at diagnosis and during infancy in children with salt-losing 21-hydroxylase deficiency , 1990, European Journal of Pediatrics.

[339]  R. Vihko,et al.  Direct solid-phase time-resolved fluoroimmunoassay of 17 alpha-hydroxyprogesterone in serum and dried blood spots on filter paper. , 1990, Clinical chemistry.

[340]  W. Sippell,et al.  Improved test to identify heterozygotes for congenital adrenal hyperplasia without index case examination , 1990, The Lancet.

[341]  J. Thalabard,et al.  Cyproterone Acetate Versus Hydrocortisone Treatment in Late-Onset Adrenal Hyperplasia , 1990 .

[342]  D. Ross,et al.  Incidentally discovered adrenal masses. , 1989, American journal of surgery.

[343]  A. Peña,et al.  The surgical management of persistent cloaca: results in 54 patients treated with a posterior sagittal approach. , 1989, Journal of pediatric surgery.

[344]  J. Winter,et al.  Screening for congenital adrenal hyperplasia: distribution of 17 alpha-hydroxyprogesterone concentrations in neonatal blood spot specimens. , 1989, The Journal of pediatrics.

[345]  J. Fiet,et al.  Comparison of basal and adrenocorticotropin-stimulated plasma 21-deoxycortisol and 17-hydroxyprogesterone values as biological markers of late-onset adrenal hyperplasia. , 1988, The Journal of clinical endocrinology and metabolism.

[346]  D. Housman,et al.  Cloning of human mineralocorticoid receptor complementary DNA: structural and functional kinship with the glucocorticoid receptor. , 1987, Science.

[347]  A. Piazza,et al.  High frequency of nonclassical steroid 21-hydroxylase deficiency. , 1985, American journal of human genetics.

[348]  P. White,et al.  HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for steroid 21-hydroxylation. , 1984 .

[349]  R. Pauli,et al.  Delayed diagnosis in congenital adrenal hyperplasia. Need for newborn screening. , 1984, American journal of diseases of children.

[350]  B. Kohn,et al.  Genotyping steroid 21-hydroxylase deficiency: hormonal reference data. , 1983, The Journal of clinical endocrinology and metabolism.

[351]  B. Kohn,et al.  Late-onset steroid 21-hydroxylase deficiency: a variant of classical congenital adrenal hyperplasia. , 1982, The Journal of clinical endocrinology and metabolism.

[352]  T F Gallagher,et al.  Twenty-four hour pattern of the episodic secretion of cortisol in normal subjects. , 1971, The Journal of clinical endocrinology and metabolism.

[353]  P. White,et al.  Congenital Adrenal Hyperplasia , 1964, The Lancet.

[354]  M. Cain,et al.  Characteristics of Female Genital Restoration Surgery for Congenital Adrenal Hyperplasia Using a Large-scale Administrative Database. , 2018, Urology.

[355]  R. V. van Wagoner,et al.  Iatrogenic Cushing Syndrome in a Child With Congenital Adrenal Hyperplasia: Erroneous Compounding of Hydrocortisone , 2018, The Journal of clinical endocrinology and metabolism.

[356]  G. Kaur,et al.  Current and future perspective of newborn screening: an Indian scenario , 2016, Journal of pediatric endocrinology & metabolism : JPEM.

[357]  Alan L Rockwood,et al.  Performance enhancement in the measurement of 5 endogenous steroids by LC-MS/MS combined with differential ion mobility spectrometry. , 2015, Clinica chimica acta; international journal of clinical chemistry.

[358]  F. Montorsi,et al.  Sexual function in adult life following Passerini-Glazel feminizing genitoplasty in patients with congenital adrenal hyperplasia. , 2014, The Journal of urology.

[359]  V. Moyer Screening for gestational diabetes mellitus: U.S. Preventive Services Task Force recommendation statement. , 2014, Annals of internal medicine.

[360]  A. Nordenström,et al.  Improving the communication of healthcare professionals with affected children and adolescents. , 2014, Endocrine development.

[361]  Soo-Youn Lee,et al.  Steroid profiling for congenital adrenal hyperplasia by tandem mass spectrometry as a second-tier test reduces follow-up burdens in a tertiary care hospital: A retrospective and prospective evaluation , 2014, Journal of perinatal medicine.

[362]  H. Meyer-Bahlburg Psychoendocrinology of Congenital Adrenal Hyperplasia , 2014 .

[363]  L. Raymond,et al.  Abiraterone in metastatic prostate cancer. , 2013, The New England journal of medicine.

[364]  D. Poppas Clitoroplasty in congenital adrenal hyperplasia: description of technique. , 2011, Advances in experimental medicine and biology.

[365]  D. Ruble,et al.  Patterns of gender development. , 2010, Annual review of psychology.

[366]  A. Chiesa,et al.  Neonatal Screening for Congenital Adrenal Hyperplasia: Experience and Results in Argentina , 2008, Journal of pediatric endocrinology & metabolism : JPEM.

[367]  N. Berglind,et al.  Aldosterone-to-renin ratio as a marker for disease severity in 21-hydroxylase deficiency congenital adrenal hyperplasia. , 2007, The Journal of clinical endocrinology and metabolism.

[368]  H. Falhammar,et al.  Metabolic profile and body composition in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. , 2007, The Journal of clinical endocrinology and metabolism.

[369]  S. Sytsma Ethics and Intersex , 2006 .

[370]  H. Beh,et al.  The Right to Be Wrong: Sex and Gender Decisions , 2006 .

[371]  S. Creighton Adult Outcomes of Feminizing Surgery , 2006 .

[372]  A. Dreger Intersex and Human Rights: The Long View , 2006 .

[373]  G. Jager,et al.  Asymptomatic Testicular Adrenal Rest Tumours in Adolescent and Adult Males with Congenital Adrenal Hyperplasia: Basal and Follow-up Investigation After 2.6 Years , 2004, Journal of pediatric endocrinology & metabolism : JPEM.

[374]  H. Meyer-Bahlburg Gender assignment and reassignment in intersexuality: controversies, data, and guidelines for research. , 2002, Advances in experimental medicine and biology.

[375]  K. Lin-Su,et al.  Prenatal diagnosis for congenital adrenal hyperplasia in 532 pregnancies. , 2001, The Journal of clinical endocrinology and metabolism.

[376]  G. Chrousos,et al.  Hydrocortisone suspension and hydrocortisone tablets are not bioequivalent in the treatment of children with congenital adrenal hyperplasia. , 2001, The Journal of clinical endocrinology and metabolism.

[377]  D. Charron,et al.  Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. , 2001, The Journal of clinical endocrinology and metabolism.

[378]  S. Baumgartner-Parzer,et al.  Salt Wasting in Simple Virilizing Congenital Adrenal Hyperplasia , 2001, Journal of pediatric endocrinology & metabolism : JPEM.

[379]  L. Airede,et al.  Prevalence factors and outcome of preterm delivery in the sokoto metropolis, Nigeria , 2000 .

[380]  R. Voutilainen,et al.  Pituitary gonadal axis and child rate in males with classical 21-hydroxylase deficiency , 2000, Journal of endocrinological investigation.

[381]  M. Adams,et al.  Feminizing genitoplasty: state of the art , 1998, World Journal of Urology.

[382]  R. Laessig,et al.  Improved precision of newborn screening for congenital adrenal hyperplasia using weight-adjusted criteria for 17-hydroxyprogesterone levels. , 1997, The Journal of pediatrics.

[383]  M. New,et al.  Growth and final height in classical and nonclassical 21-hydroxylase deficiency. , 1989, Journal of endocrinological investigation.

[384]  S. Pang,et al.  Microfilter paper method for 17 alpha-hydroxyprogesterone radioimmunoassay: its application for rapid screening for congenital adrenal hyperplasia. , 1977, The Journal of clinical endocrinology and metabolism.

[385]  S. Rivkees,et al.  Edinburgh Research Explorer Guidelines for the Development of Comprehensive Care Centers for Congenital Adrenal Hyperplasia: Guidance from the CARES Foundation Initiative , 2022 .