J. Léger

发表

Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome.

P. Chanson, B. Donadille, P. Touraine, 2016, Human reproduction.

Reduced final height and indications for insulin resistance in 20 year olds born small for gestational age: regional cohort study

P. Czernichow, C. Levy-marchal, D. Chevenne, 1997, BMJ.

Cervical Ultrasound in Congenital Hypothyroidism

C. Garel, M. Hassan, J. Léger, 1989 .

Factors Affecting Loss to Follow-Up in Children and Adolescents with Chronic Endocrine Conditions

J. Carel, D. Zénaty, J. Léger, 2020, Hormone Research in Paediatrics.

2022 European Thyroid Association Guideline for the management of pediatric Graves’ disease

S. H. Pearce, T. Cheetham, F. Verburg, 2021, European thyroid journal.

Developmental milestones at one year for the offspring of mothers with congenital hypothyroidism: a population-based study

B. Heude, M. Charles, B. Larroque, 2018, European journal of endocrinology.

The insulin‐like growth factor‐I (IGF‐I) gene in individuals born small for gestational age (SGA)

P. Czernichow, M. Savage, J. Léger, 1999, Clinical endocrinology.

New method for early evaluation of clitoris innervation using clitoro-perineal reflex after feminizing genitoplasty in early childhood: a pilot-study

J. Léger, L. Martinerie, M. Peycelon, 2021, Scientific Reports.

Reduced bone mineral density at diagnosis and bone mineral recovery during treatment in children with Graves' disease.

P. Czernichow, J. Léger, J. Ruiz, 2000, The Journal of pediatrics.

Delineation of Late Onset Hypoventilation Associated with Hypothalamic Dysfunction Syndrome

A. Munnich, Y. Crow, M. Polak, 2008, Pediatric Research.

Intrauterine Growth Retardation

C. Levy-marchal, J. Léger, 2004 .

Dysregulated glucose homeostasis in congenital central hypoventilation syndrome

M. Harris, J. Léger, M. Harris, 2018, Journal of pediatric endocrinology & metabolism : JPEM.

Intermittent hyperglycemia due to autonomic nervous system dysfunction: a new feature in patients with congenital central hypoventilation syndrome.

J. Carel, H. Trang, S. Dauger, 2013, The Journal of pediatrics.

High-resolution heavily T2-weighted magnetic resonance imaging for evaluation of the pituitary stalk in children with ectopic neurohypophysis

M. Alison, J. Carel, L. Tzarouchi, 2017, Pediatric Radiology.

Clinical Description of Infants with Congenital Hypothyroidism and Iodide Organification Defects

M. Polak, P. Czernichow, J. Carel, 2008, Hormone Research in Paediatrics.

Endocrine consequences of premature pubarche in post‐pubertal Caucasian girls

P. Czernichow, C. Levy-marchal, T. Méas, 2002, Clinical endocrinology.

Subnormal serum insulin-like growth factor-I levels in young adults with childhood-onset nonacquired growth hormone (GH) deficiency who recover normal gh secretion may indicate less severe but persistent pituitary failure.

C. Garel, P. Czernichow, D. Simon, 2007, The Journal of clinical endocrinology and metabolism.

Lower bone mineral content in children with type 1 diabetes mellitus is linked to female sex, low insulin-like growth factor type I levels, and high insulin requirement.

G. Sebag, P. Czernichow, N. Tubiana-Rufi, 2006, The Journal of clinical endocrinology and metabolism.

Do all patients with childhood-onset growth hormone deficiency (GHD) and ectopic neurohypophysis have persistent GHD in adulthood?

C. Garel, P. Czernichow, J. Léger, 2005, The Journal of clinical endocrinology and metabolism.

Do all girls with apparent idiopathic precocious puberty require gonadotropin-releasing hormone agonist treatment?

P. Czernichow, J. Léger, R. Reynaud, 2000, The Journal of pediatrics.

A 5-year prospective study of growth hormone (GH)-deficient children treated with GH before the age of 3 years. French Serono Study Group.

P. Czernichow, J. Limal, J. Léger, 1997, The Journal of clinical endocrinology and metabolism.

ENDOCRINOLOGY IN THE TIME OF COVID-19: Management of hyperthyroidism and hypothyroidism

P. Taylor, L. Persani, K. Boelaert, 2020, European journal of endocrinology.

Positive impact of long-term antithyroid drug treatment on the outcome of children with Graves' disease: national long-term cohort study.

M. Benmerad, C. Alberti, J. Léger, 2012, The Journal of clinical endocrinology and metabolism.

X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood.

D. Zénaty, J. Léger, P. Boizeau, 2019, European journal of endocrinology.

Malignant and benign thyroid nodules after total body irradiation preceding hematopoietic cell transplantation during childhood.

A. Baruchel, J. Carel, C. Alberti, 2012, European journal of endocrinology.

Algorithms to Define Abnormal Growth in Children: External Validation and Head-To-Head Comparison

B. Heude, S. Nicklaus, M. Resche-Rigon, 2018, The Journal of clinical endocrinology and metabolism.

X-chromosome gene dosage as a determinant of impaired pre and postnatal growth and adult height in Turner syndrome.

D. Zénaty, J. Léger, P. Boizeau, 2016, European journal of endocrinology.

Impaired puberty, fertility, and final stature in 45,X/46,XY mixed gonadal dysgenetic patients raised as boys.

C. Bouvattier, S. Cabrol, Y. Morel, 2012, European journal of endocrinology.

Medication in AN: A Multidisciplinary Overview of Meta-Analyses and Systematic Reviews

P. Gérardin, S. Guillaume, S. Iceta, 2019, Journal of clinical medicine.

Transition of young adults with endocrine and metabolic diseases: the ‘TRANSEND’ cohort

M. Polak, G. Pinto, P. Faucher, 2020, Endocrine connections.

Precocious Puberty

J. Carel, J. Léger, 2021, Oxford Textbook of Endocrinology and Diabetes 3e.

Mutations in the maternally imprinted gene MKRN3 are common in familial central precocious puberty.

N. de Roux, J. Carel, M. Salerno, 2016, European journal of endocrinology.

One year of GH treatment for growth failure in children with anorexia nervosa: a randomized placebo-controlled trial.

M. Alison, C. Alberti, D. Chevenne, 2021, The Journal of clinical endocrinology and metabolism.

Intrauterine growth retardation predisposes to insulin resistance but not to hyperandrogenism in young women.

P. Czernichow, C. Levy-marchal, D. Chevenne, 1999, The Journal of clinical endocrinology and metabolism.

Prediction Factors in the Determination of Final Height in Subjects Born Small for Gestational Age

P. Czernichow, J. Léger, D. Collin, 1998, Pediatric Research.

Human growth hormone treatment of short-stature children born small for gestational age: effect on muscle and adipose tissue mass during a 3-year treatment period and after 1 year's withdrawal.

C. Garel, M. Hassan, P. Czernichow, 1998, The Journal of clinical endocrinology and metabolism.

High serum leptin concentrations during catch-up growth of children born with intrauterine growth retardation.

P. Czernichow, C. Levy-marchal, J. Léger, 1999, The Journal of clinical endocrinology and metabolism.

Ontogeny of leptin in human fetuses and newborns: effect of intrauterine growth retardation on serum leptin concentrations.

J. Oury, P. Czernichow, C. Levy-marchal, 1998, The Journal of clinical endocrinology and metabolism.

Serum concentrations of insulin-like growth factor (IGF)-1 and IGF binding protein-3 (IGFBP-3), IGF-1/IGFBP-3 ratio, and markers of bone turnover: reference values for French children and adolescents and z-score comparability with other references.

J. Tichet, C. Alberti, D. Chevenne, 2011, Clinical chemistry.

Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case.

M. Polak, D. Lacombe, S. Romana, 2009, Human molecular genetics.

Congenital hypothyroidism: decreased growth velocity in the first weeks of life.

P. Czernichow, J. Léger, 1989, Biology of the neonate.

Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study.

P. Philibert, C. Sultan, J. Achermann, 2007, Human reproduction.

Different Mechanisms of Intestinal Calcium Absorption at Different Life Stages: Therapeutic Implications and Long-Term Responses to Treatment in Patients with Hereditary Vitamin D-Resistant Rickets

J. Carel, J. Léger, M. Garabédian, 2012, Hormone Research in Paediatrics.

Angiotensin I-converting enzyme gene polymorphism modulates the consequences of in utero growth retardation on plasma insulin in young adults.

F. Cambien, P. Czernichow, C. Levy-marchal, 1998, Diabetes.

Congenital Hypothyroidism: Role of Nuclear Medicine.

C. de Labriolle-Vaylet, J. Léger, Isabelle Keller-Petrot, 2017, Seminars in nuclear medicine.

Increased incidence of congenital hypothyroidism in France from 1982 to 2012: a nationwide multicenter analysis.

D. Cheillan, J. Léger, R. Coutant, 2016, Annals of epidemiology.

European Society for Paediatric Endocrinology Consensus Guidelines on Screening, Diagnosis, and Management of Congenital Hypothyroidism

M. Polak, H. Krude, J. Léger, 2014, Hormone Research in Paediatrics.

European Society for Paediatric Endocrinology Consensus Guidelines on Screening, Diagnosis, and Management of Congenital Hypothyroidism

M. Polak, H. Krude, J. Léger, 2014, The Journal of clinical endocrinology and metabolism.

A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate.

Soo-Mi Park, M. Polak, P. Czernichow, 2002, Human molecular genetics.

Nineteen years of national screening for congenital hypothyroidism: familial cases with thyroid dysgenesis suggest the involvement of genetic factors.

M. Polak, P. Czernichow, C. Bonaïti‐pellié, 2001, The Journal of clinical endocrinology and metabolism.

Unexpected endocrine features and normal pigmentation in a young adult patient carrying a novel homozygous mutation in the POMC gene.

K. Clément, G. Barsh, P. Czernichow, 2008, The Journal of clinical endocrinology and metabolism.

Growth Factors and Intrauterine Growth Retardation. II. Serum Growth Hormone, Insulin-Like Growth Factor (IGF) I, and IGF-Binding Protein 3 Levels in Children with Intrauterine Growth Retar Age1

P. Czernichow, J. Limal, J. Léger, 1996, Pediatric Research.

Growth Factors and Intrauterine Growth Retardation. I. Serum Growth Hormone, Insulin-Like Growth Factor (IGF)-I, IGF-II, and IGF Binding Protein 3 Levels in Normally Grown and Gestation1

J. Oury, P. Czernichow, J. Léger, 1996, Pediatric Research.

Syndrome X: a consequence of intra-uterine malnutrition?

P. Czernichow, C. Levy-marchal, J. Léger, 2000, Journal of pediatric endocrinology & metabolism : JPEM.

Optimal use of growth hormone therapy for maximizing adult height in children born small for gestational age.

J. Carel, J. Léger, D. Simon, 2008, Best practice & research. Clinical endocrinology & metabolism.

Management of Graves' disease during pregnancy: the key role of fetal thyroid gland monitoring.

C. Garel, D. Luton, J. Oury, 2005, The Journal of clinical endocrinology and metabolism.

A new efficient method to monitor precocious puberty nationwide in France

A. Le Tertre, J. Le Moal, J. Carel, 2018, European Journal of Pediatrics.

Pituitary-thyroid feedback in a patient with a sporadic activating thyrotropin (TSH) receptor mutation: implication that thyroid-secreted factors other than thyroid hormones contribute to serum TSH levels.

N. de Roux, J. Carel, D. Chevenne, 2009, The Journal of clinical endocrinology and metabolism.

Predictors of autoimmune hyperthyroidism relapse in children after discontinuation of antithyroid drug treatment.

P. Czernichow, C. Alberti, M. Castanet, 2008, The Journal of clinical endocrinology and metabolism.

Intermittent Recombinant Growth Hormone Treatment in Short Children Born Small for Gestational Age: Four-Year Results of a Randomized Trial of Two Different Treatment Regimens

P. Czernichow, R. Crabbé, J. Léger, 2006, Hormone Research in Paediatrics.

Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)

P. Chanson, M. Elmaleh, A. Cohen, 2022, Orphanet Journal of Rare Diseases.

Central Precocious Puberty – Management and Long-term Outcomes

J. Carel, J. Léger, 2015, European endocrinology.

Androgen insensitivity syndrome: somatic mosaicism of the androgen receptor in seven families and consequences for sex assignment and genetic counseling.

P. Czernichow, G. Pinto, B. Köhler, 2005, The Journal of clinical endocrinology and metabolism.

Evaluation of gonadal function in 107 intersex patients by means of serum antimüllerian hormone measurement.

M. Forest, P. Czernichow, F. Baş, 1999, The Journal of clinical endocrinology and metabolism.

Vitamin D Receptor Genotype and Bone Mineral Density in Caucasian Children with Congenital Hypothyroidism

P. Czernichow, J. Léger, J. Ruiz, 2000, Journal of pediatric endocrinology & metabolism : JPEM.

Oral manifestations of patients with Kenny-Caffey Syndrome.

D. Lacombe, A. Dieux, I. Bailleul-Forestier, 2012, European Journal of Medical Genetics.

High Proportion of Pituitary Abnormalities and Other Congenital Defects in Children with Congenital Nasal Pyriform Aperture Stenosis

C. Garel, P. Czernichow, C. Baumann, 2006, Pediatric Research.

Sex-specific impact of congenital hypothyroidism due to thyroid dysgenesis on skeletal maturation in term newborns.

B. Larroque, K. Supernant, J. Léger, 2003, The Journal of clinical endocrinology and metabolism.

Magnetic resonance imaging evaluation of adipose tissue and muscle tissue mass in children with growth hormone (GH) deficiency, Turner's syndrome, and intrauterine growth retardation during the first year of treatment with GH.

M. Hassan, P. Czernichow, J. Léger, 1994, The Journal of clinical endocrinology and metabolism.

Hyperthyroidism in Childhood: Causes, When and How to Treat

J. Carel, J. Léger, 2012, Journal of clinical research in pediatric endocrinology.

Central Precocious Puberty: From Diagnosis to Treatment

J. Carel, J. Léger, 2017 .

Clinical and Biological Diagnosis of Central Precocious Puberty

J. Carel, J. Léger, 2016 .

Precocious puberty.

J. Carel, J. Léger, 2008, Lancet.

Congenital Hypogonadotropic Hypogonadism: A Trait Shared by Several Complex Neurodevelopmental Disorders.

N. de Roux, J. Carel, J. Léger, 2016, Endocrine development.

Diagnostic des retards pubertaires

K. Busiah, A. Harroche, J. Guilbert, 2007 .

Testicular function and physical outcome in young adult males diagnosed with idiopathic 46 XY disorders of sex development during childhood.

C. Sultan, Y. Aigrain, J. Carel, 2011, European journal of endocrinology.

SRY‐negative 46,XX testicular/ovotesticular DSD: Long‐term outcomes and early blockade of gonadotropic axis

C. Bouvattier, K. McElreavey, M. Peuchmaur, 2020, Clinical endocrinology.

Growth hormone deficiency with ectopic neurohypophysis: anatomical variations and relationship between the visibility of the pituitary stalk asserted by magnetic resonance imaging and anterior pituitary function.

C. Garel, M. Hassan, P. Czernichow, 1999, The Journal of clinical endocrinology and metabolism.

The relationship between the GH/IGF-I axis and serum markers of bone turnover metabolism in healthy children.

P. Czernichow, J. Tichet, P. Armoogum, 2007, European journal of endocrinology.

Medullary thyroid carcinoma identified within the first year of life in children with hereditary multiple endocrine neoplasia type 2A (codon 634) and 2B.

J. Hugot, M. Schlumberger, P. Guillausseau, 2009, European journal of endocrinology.

Variability of serum human growth hormone levels in different commercial assays: specificity of growth hormone-releasing hormone stimulation.

D. Chevenne, J. Léger, D. Porquet, 1993, Hormone research.

Regulation of Growth Hormone-Binding Protein: Clinical Implications

P. Kelly, J. Finidori, J. Léger, 1993, The Journal of pediatric endocrinology.

[Prophylaxis of vitamin D deficiency in hypothyroidism in the newborn infant].

P. Czernichow, J. Léger, C. Tau, 1989, Archives francaises de pediatrie.

Bone mineral density and metabolism in children with congenital hypothyroidism after prolonged l‐thyroxine therapy

P. Czernichow, J. Guibourdenche, J. Léger, 1997, Acta paediatrica.

Impact of the underlying etiology of growth hormone deficiency on serum IGF-I SDS levels during GH treatment in children.

D. Mohamed, J. Carel, C. Alberti, 2017, European journal of endocrinology.

Human type I IFN deficiency does not impair B cell response to SARS-CoV-2 mRNA vaccination

J. Casanova, M. Zins, S. Tangye, 2022, The Journal of experimental medicine.

Direct double monoclonal immunoradiometric assay of urinary human growth hormone.

P. Czernichow, J. Léger, D. Porquet, 1992, Clinical chemistry.

DirectDoubleMonoclonallmmunoradiometric Assayof UrinaryHumanGrowth Hormone

J. Léger, D. Porquet, O. Rigal, 1992 .

Pregnancy outcomes in women with preexisting thyroid diseases: a French cohort study

B. Heude, M. Charles, M. Dufourg, 2020, Journal of Developmental Origins of Health and Disease.

Deletion of P399_E401 in NADPH cytochrome P450 oxidoreductase results in partial mixed oxidase deficiency.

M. Polak, C. Flück, A. Pandey, 2011, Biochemical and biophysical research communications.

Rapid Communication Xp2l Dystrophin and 6q Dystrophin-related Protein Comparative Immunolocalization Using Multiple Antibodies

T. Voit, F. Pons, J. Léger, 2007 .

Congenital hypothyroidism: a clinical update of long-term outcome in young adults.

J. Léger, J. Léger, 2015, European journal of endocrinology.

Factors associated with hearing impairment in patients with congenital hypothyroidism treated since the neonatal period: a national population-based study.

E. Ecosse, J. Léger, T. van den Abbeele, 2013, The Journal of clinical endocrinology and metabolism.

Growth factors and intrauterine growth retardation. I. Serum growth hormone, insulin-like growth factor (IGF)-I, IGF-II, and IGF binding protein 3 levels in normally grown and growth-retarded human fetuses during the second half of gestation.

J. Oury, P. Czernichow, J. Léger, 1996, Pediatric research.

Extreme phenotypic variability of thyroid dysgenesis in six new cases of congenital hypothyroidism due to PAX8 gene loss-of-function mutations.

M. Polak, L. Guillot, N. de Roux, 2014, European journal of endocrinology.

[Epidemiology of congenital hypothyroidism in France: recent data].

J. Léger, 2019, Biologie aujourd'hui.

Natural History and Management of Congenital Hypothyroidism with in situ Thyroid Gland

M. Polak, P. Czernichow, S. Cabrol, 2015, Hormone Research in Paediatrics.

Fetal and neonatal thyroid function in relation to maternal Graves' disease.

D. Luton, J. Oury, M. Polak, 2004, Best practice & research. Clinical endocrinology & metabolism.

High prevalence of syndromic disorders in patients with non-isolated central precocious puberty.

N. de Roux, J. Carel, E. Ecosse, 2018, European journal of endocrinology.

Monocentric study of 112 consecutive patients with childhood onset GH deficiency around and after transition.

M. Polak, G. Pinto, J. Golmard, 2013, European journal of endocrinology.

Predictors of late menarche and adult height in children with anorexia nervosa

M. Mouren, P. Armoogum, J. Léger, 2007, Clinical endocrinology.

Graves' disease in children.

J. Léger, D. Rodrigue, R. Coutant, 2018, Annales d'endocrinologie.

Graves' disease in children.

J. Léger, D. Rodrigue, R. Coutant, 2018, Annales d'endocrinologie.

Graves' disease in children.

J. Léger, 2014, Endocrine development.

Glucocorticoid induced adrenal insufficiency in children: Morning cortisol values to avoid LDSST

J. Hogan, J. Carel, D. Chevenne, 2022, Frontiers in Pediatrics.

Growth impairment and limited range of joint motion in children should raise suspicion of an attenuated form of mucopolysaccharidosis: expert opinion

B. Chevallier, A. Brassier, N. Guffon, 2019, European Journal of Pediatrics.

Otologic disorders in Turner syndrome.

D. Zénaty, J. Léger, T. van den Abbeele, 2017, European annals of otorhinolaryngology, head and neck diseases.

[Recommendations of the French Society of Endocrinology for the management of thyroid nodules].

P. Caron, E. Leteurtre, F. Borson‐Chazot, 2011, Presse medicale.

Guidelines of the French society of endocrinology for the management of thyroid nodules.

P. Caron, E. Leteurtre, F. Borson‐Chazot, 2011, Annales d'endocrinologie.

Adult height and pubertal growth in Turner syndrome after treatment with recombinant growth hormone.

J. Coste, J. Carel, J. Chaussain, 2005, The Journal of clinical endocrinology and metabolism.

Three Cases of Congenital Growth Hormone Deficiency with Micropenis and Hypospadias: What Does Growth Hormone Have to Do with It?

P. Czernichow, J. Léger, Alejandro Velasquez Urzola, 1999, Hormone Research in Paediatrics.

Should 45,X/46,XY boys with no or mild anomaly of external genitalia be investigated and followed up?

B. Donadille, C. Bouvattier, S. Christin‐Maitre, 2018, European journal of endocrinology.

Anti-Müllerian hormone levels in serum from human foetuses and children: pattern and clinical interest

D. Luton, J. Guibourdenche, D. Chevenne, 2003, Molecular and Cellular Endocrinology.

Bilateral anorchia in infancy: occurence of micropenis and the effect of testosterone treatment.

P. Mouriquand, M. Nicolino, S. Cabrol, 2006, The Journal of pediatrics.

Determining clinical and biological indicators for health outcomes in adult patients with childhood onset of congenital adrenal hyperplasia.

M. Polak, J. Golmard, P. Touraine, 2015, European journal of endocrinology.

Congenital Hypothyroidism: A 2020–2021 Consensus Guidelines Update—An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology

D. Luton, M. Polak, H. Krude, 2020, Thyroid : official journal of the American Thyroid Association.

Marked geographic patterns in the incidence of idiopathic central precocious puberty: a nationwide study in France.

A. Le Tertre, J. Le Moal, J. Carel, 2018, European journal of endocrinology.

DNA polymorphisms of the KiSS1 3′ Untranslated region interfere with the folding of a G-rich sequence into G-quadruplex

J. Carel, N. Roux, M. Houang, 2012, Molecular and Cellular Endocrinology.

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

G. Conway, K. McElreavey, S. Nef, 2019, Genetics in Medicine.

How accurate is the prenatal diagnosis of abnormal genitalia?

C. Garel, D. Luton, M. Polak, 2000, The Journal of urology.

Fecundity in young adults treated early for congenital hypothyroidism is related to the initial severity of the disease: a longitudinal population-based cohort study.

B. Larroque, J. Bouyer, E. Ecosse, 2012, The Journal of clinical endocrinology and metabolism.

Adult height after long term treatment with recombinant growth hormone for idiopathic isolated growth hormone deficiency: observational follow up study of the French population based registry

J. Coste, J. Carel, J. Chaussain, 2002, BMJ : British Medical Journal.

Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1)

N. Roux, D. Zénaty, J. Léger, 2006, Molecular and Cellular Endocrinology.

Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations

M. Hauschild, P. Bouloux, M. Polak, 2014, Genetics in Medicine.

Congenital hypogonadotropic hypogonadism

P. Touraine, N. de Roux, N. Roux, 2020, Definitions.

Hypogonadisme hypogonadotrope congénital Congenital hypogonadotropic hypogonadism

P. Touraine, J. Léger, N. D. Roux, 2009 .

Improvement in Bone Mineral Density and Body Composition in Survivors of Childhood Acute Lymphoblastic Leukemia: A 1-Year Prospective Study

G. Sebag, P. Czernichow, C. Alberti, 2005, Pediatrics.

All-cause and disease-specific mortality and morbidity in patients with congenital hypothyroidism treated since the neonatal period: a national population-based study.

E. Ecosse, J. Léger, Sophie dos Santos, 2013, The Journal of clinical endocrinology and metabolism.

Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis

M. Polak, P. Czernichow, J. Amiel, 2007, Human Genetics.

Familial forms of thyroid dysgenesis.

M. Polak, M. Castanet, J. Léger, 2007, Endocrine development.

Thyroid Hemiagenesis Is a Rare Variant of Thyroid Dysgenesis with a Familial Component but without Pax8 Mutations in a Cohort of 22 Cases

M. Polak, P. Czernichow, S. Lyonnet, 2005, Pediatric Research.

Linkage and mutational analysis of familial thyroid dysgenesis demonstrate genetic heterogeneity implicating novel genes

S. Heath, M. Polak, P. Czernichow, 2005, European Journal of Human Genetics.

Thyroid developmental anomalies in first degree relatives of children with congenital hypothyroidism.

C. Garel, M. Polak, P. Czernichow, 2002, The Journal of clinical endocrinology and metabolism.

Familial forms of thyroid dysgenesis among infants with congenital hypothyroidism.

M. Polak, P. Czernichow, C. Bonaïti‐pellié, 2000, The New England journal of medicine.

Pregnancy outcomes and relationship to treatment adequacy in women treated early for congenital hypothyroidism: a longitudinal population-based study.

B. Larroque, E. Ecosse, J. Léger, 2015, The Journal of clinical endocrinology and metabolism.

PRENATAL DIAGNOSIS OF CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY

M. Forest, H. Dörr, Y. Morel, 1993, Pediatric Research.

Refeeding in anorexia nervosa

J. Léger, A. Bargiacchi, A. Paulsen, 2018, European Journal of Pediatrics.

Epidemiology of Childhood Hyperthyroidism in France: A Nationwide Population-Based Study

A. Le Tertre, A. Zeghnoun, J. Le Moal, 2018, The Journal of clinical endocrinology and metabolism.

Diagnosis and management of hyperthyroidism from prenatal life to adolescence.

J. Carel, J. Léger, 2018, Best practice & research. Clinical endocrinology & metabolism.

MANAGEMENT OF ENDOCRINE DISEASE: Arguments for the prolonged use of antithyroid drugs in children with Graves' disease.

J. Carel, J. Léger, 2017, European journal of endocrinology.

Graves' disease in children.

J. Carel, C. Alberti, J. Léger, 2014, Best practice & research. Clinical endocrinology & metabolism.

Triiodothyronine-predominant Graves' disease in childhood: detection and therapeutic implications.

J. Carel, C. Alberti, D. Chevenne, 2015, European journal of endocrinology.

Graves’ Disease in Childhood: Advances in Management with Antithyroid Drug Therapy

J. Carel, J. Léger, F. Kaguelidou, 2009, Hormone Research in Paediatrics.

Thickened pituitary stalk on magnetic resonance imaging in children with central diabetes insipidus.

C. Garel, M. Hassan, P. Czernichow, 1999, The Journal of clinical endocrinology and metabolism.

School difficulties in 20-year-olds who were born small for gestational age at term in a regional cohort study.

P. Czernichow, S. Bertrais, B. Larroque, 2001, Pediatrics.

Secretion of hormones by ectopic thyroid glands after prolonged thyroxine therapy.

P. Czernichow, J. Léger, 1990, The Journal of pediatrics.

Contribution of Magnetic Resonance Imaging in Non-Tumoral Hypopituitarism in Children

C. Garel, J. Léger, 2006, Hormone Research in Paediatrics.

Thickened Pituitary Stalk on Magnetic Resonance Imaging in Children with Central Diabetes insipidus

C. Garel, P. Czernichow, J. Léger, 2000, Hormone Research in Paediatrics.

Management of Fetal and Neonatal Graves' Disease

J. Léger, 2016, Hormone Research in Paediatrics.

Subtle health impairment and socioeducational attainment in young adult patients with congenital hypothyroidism diagnosed by neonatal screening: a longitudinal population-based cohort study.

B. Larroque, J. Lanöe, E. Ecosse, 2011, The Journal of clinical endocrinology and metabolism.

Proportion of various types of thyroid disorders among newborns with congenital hypothyroidism and normally located gland: a regional cohort study

C. Garel, P. Czernichow, R. Gaudino, 2005, Clinical endocrinology.

Thyroid abnormalities by ultrasonography in neonates with congenital hypothyroidism.

C. Garel, P. Czernichow, J. Léger, 2003, The Journal of pediatrics.

Clinical case seminar in pediatric thyroid disease.

M. Polak, R. Elisei, G. Szinnai, 2014, Endocrine development.

Early Determinants of Thyroid Function Outcomes in Children with Congenital Hypothyroidism and a Normally Located Thyroid Gland: A Regional Cohort Study.

D. Mohamed, J. Carel, D. Zénaty, 2018, Thyroid : official journal of the American Thyroid Association.

Influence of severity of congenital hypothyroidism and adequacy of treatment on school achievement in young adolescents: a population‐based cohort study

B. Larroque, J. Léger, J. Norton, 2001, Acta paediatrica.

Prevalence and course of thyroid dysfunction in neonates at high risk of Graves' disease or with non-autoimmune hyperthyroidism.

J. Carel, D. Chevenne, J. Léger, 2021, European journal of endocrinology.

Management of fetal thyroid goitres: a report of 11 cases in a single perinatal unit

D. Luton, J. Oury, M. Polak, 2000, Prenatal diagnosis.

Fetal cord blood sampling in the diagnosis and the treatment of fetal hyperthyroidism in the offsprings of a euthyroid mother, producing thyroid stimulating immunoglobulins.

D. Luton, J. Oury, M. Polak, 1997, Annales d'endocrinologie.

Role of congenital hypothyroidism in hearing loss in children.

P. Czernichow, P. Bonfils, J. Léger, 1994, The Journal of pediatrics.

Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37

K. McElreavey, D. Satta, M. Totonchi, 2021, Sexual Development.

Nasal pyriform aperture stenosis and absence of the anterior pituitary gland: report of two cases.

C. Garel, M. Hassan, P. Czernichow, 1996, The Journal of pediatrics.

X-chromosome gene dosage as a determinant of impaired pre and postnatal growth and adult height in Turner syndrome.

D. Zénaty, J. Léger, P. Boizeau, 2016, European journal of endocrinology.

Dental agenesis in Kallmann syndrome individuals with FGFR1 mutations.

N. de Roux, I. Bailleul-Forestier, D. Zénaty, 2010, International journal of paediatric dentistry.

Translocation (Y;22) resulting in the loss of SHOX and isolated short stature

M. Hassan, P. Czernichow, P. Eydoux, 2004, American journal of medical genetics. Part A.

TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology

A. Munnich, R. Scharfmann, M. Polak, 2018, EMBO molecular medicine.

Normal growth hormone (GH) response to GH-releasing hormone in children with thalassemia major before puberty: a possible age-related effect.

R. Girot, J. Léger, H. Crosnier, 1989, The Journal of clinical endocrinology and metabolism.

Surgical implications of the thickened pituitary stalk accompanied by central diabetes insipidus.

F. Brunelle, C. Sainte-Rose, M. Zérah, 2005, Journal of neurosurgery.

[Morphological abnormalities of the pituitary stalk of unknown cause in 4 cases of diabetes insipidus in children].

C. Garel, M. Hassan, P. Czernichow, 1994, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Challenges and improvement needs in the care of patients with central diabetes insipidus

M. Dattani, J. Argente, M. Sherlock, 2022, Orphanet Journal of Rare Diseases.

Chapter 11 – Hyperthyroidism

J. Léger, 2009 .

Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4.

P. Czernichow, J. Pantel, S. Amselem, 2001, American journal of human genetics.

A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism.

M. Polak, P. Czernichow, E. Milgrom, 1996, The Journal of clinical endocrinology and metabolism.

Phenotypic variation of SF1 gene mutations.

M. Polak, G. Pinto, D. Damiani, 2011, Advances in experimental medicine and biology.

Central Diabetes Insipidus in Infancy With or Without Hypothalamic Adipsic Hypernatremia Syndrome: Early Identification and Outcome.

M. Elmaleh, J. Carel, J. Léger, 2016, The Journal of clinical endocrinology and metabolism.

GH deficiency with central precocious puberty: a new rare disorder associated with a developmental defect of the hypothalamic-pituitary area.

C. Garel, P. Czernichow, G. Pinto, 2007, European journal of endocrinology.

Phenotypic variability in children with growth hormone deficiency associated with posterior pituitary ectopia

C. Garel, P. Czernichow, J. Léger, 2006, Clinical endocrinology.

Presence of magnetic resonance imaging abnormalities of the hypothalamic–pituitary axis is a significant determinant of the first 3 years growth response to human growth hormone treatment in prepubertal children with nonacquired growth hormone deficiency

C. Garel, P. Czernichow, D. Zénaty, 2003, Clinical endocrinology.

Prediction of the outcome of growth at 2 years of age in neonates with intra-uterine growth retardation.

P. Czernichow, J. Léger, C. Limoni, 1997, Early human development.

Audiological assessment of eleven congenital hypothyroid infants before and after treatment.

P. Avan, P. Czernichow, P. Bonfils, 1993, Acta oto-laryngologica.

[Chronic autoimmune thyroiditis in the child].

C. Garel, P. Czernichow, J. Léger, 2000, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Multiplex Ligation-Dependent Probe Amplification Improves the Detection Rate of NKX2.1 Mutations in Patients Affected by Brain-Lung-Thyroid Syndrome

A. Munnich, M. Polak, L. Guillot, 2012, Hormone Research in Paediatrics.

Quality of life determinants in young women with turner's syndrome after growth hormone treatment: results of the StaTur population-based cohort study.

J. Coste, J. Carel, J. Chaussain, 2005, The Journal of clinical endocrinology and metabolism.

Self-esteem and social adjustment in young women with Turner syndrome--influence of pubertal management and sexuality: population-based cohort study.

C. Elie, J. Coste, M. Tauber, 2006, The Journal of clinical endocrinology and metabolism.

Progressive Normalization of Growth Hormone-Binding Protein and IGF-I Levels in Treated Growth Hormone-Deficient Children

P. Czernichow, J. Léger, M. Noel, 1995, Pediatric Research.

No evidence for a defect in growth hormone binding to liver membranes in thalassemia major.

J. Hocquette, R. Girot, A. Amar‐Costesec, 1989, The Journal of clinical endocrinology and metabolism.

Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe

P. Chanson, J. Bertherat, T. Battelino, 2022, European journal of endocrinology.

Assessment of fetal thyroid function by colored Doppler echography.

D. Luton, J. Oury, M. Polak, 1997, Fetal Diagnosis and Therapy.

Ultrasonographic assessment of the ectopic thyroid tissue in children with congenital hypothyroidism

C. Garel, P. Czernichow, J. Léger, 2004, Pediatric Radiology.

Early determinants of thyroid function outcomes in children with congenital hypothyroidism and a normally located thyroid gland: a regional Cohort Study

D. Mohamed, J. Carel, J. Léger, 2019, Yearbook of Paediatric Endocrinology.

Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients

D. Larizza, M. Maghnie, M. Polak, 2016, The Journal of clinical endocrinology and metabolism.

[Cerebral anomalies associated with growth hormone insufficiency in children: major markers for diagnosis?].

C. Garel, M. Hassan, P. Czernichow, 1999, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Epidemiology of Thyroid Dysgenesis: The Familial Component

M. Polak, M. Castanet, J. Léger, 2010, Hormone Research in Paediatrics.

[Basedow disease in children: clinical and evolutive aspects].

P. Czernichow, Y. Le Bouc, S. Cabrol, 1998, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Thyroid imaging in children.

C. Garel, J. Léger, 2007, Endocrine development.

Abnormal bone mineral density and content in girls with early-onset anorexia nervosa

R. Delorme, M. Alison, Grégor Mamou, 2021, Journal of eating disorders.

Prenatal pelvic MRI: additional clues for assessment of urogenital obstructive anomalies.

J. Oury, G. Sebag, J. Carel, 2014, Journal of pediatric urology.

Unilateral Cryptorchidism in Mice Mutant for Ptgds

Y. Urade, P. Philibert, C. Sultan, 2013, Human mutation.

Should the WHO Growth Charts Be Used in France?

B. Heude, B. Salanave, G. Gusto, 2015, PloS one.

An inactivating mutation within the first extracellular loop of the thyrotropin receptor impedes normal posttranslational maturation of the extracellular domain.

M. Polak, N. de Roux, Sylvia Sura-Trueba, 2009, Endocrinology.

Mutations in BOREALIN cause thyroid dysgenesis

A. Munnich, R. Scharfmann, M. Polak, 2016, Human molecular genetics.

Haploinsufficiency of Dmxl2, Encoding a Synaptic Protein, Causes Infertility Associated with a Loss of GnRH Neurons in Mouse

E. Génin, J. Dupont, Z. Csaba, 2014, PLoS biology.

Impact of total cumulative glucocorticoid dose on bone mineral density in patients with 21-hydroxylase deficiency.

M. Polak, B. Donadille, P. Touraine, 2008, European journal of endocrinology.

Early postnatal growth and neurodevelopment in children born moderately preterm or small for gestational age at term: A systematic review

B. Heude, M. Charles, J. Botton, 2018, Paediatric and perinatal epidemiology.

Screening for congenital hypothyroidism in France

J. Léger, 1990, European Journal of Pediatrics.

Low Birth Weight: Effect on Insulin Sensitivity and Lipid Metabolism

P. Czernichow, C. Levy-marchal, J. Léger, 2003, Hormone Research in Paediatrics.

How should we investigate children with growth failure?

J. Léger, 2017, Annales d'endocrinologie.

The effect of in-utero undernutrition on the insulin resistance syndrome

P. Czernichow, C. Levy-marchal, J. Léger, 2002, Current diabetes reports.

Additional phenotypic abnormalities with presence of cysts within the empty thyroid area in patients with congenital hypothyroidism with thyroid dysgenesis.

C. Garel, P. Czernichow, D. Marinovic, 2003, The Journal of clinical endocrinology and metabolism.

A thyroxine dosage of 8 μg/kg per day is appropriate for the initial treatment of the majority of infants with congenital hypothyroidism

P. Czernichow, G. Touati, J. Léger, 1997, European Journal of Pediatrics.

A thyroxine dosage of 8 micrograms/kg per day is appropriate for the initial treatment of the majority of infants with congenital hypothyroidism.

P. Czernichow, G. Touati, J. Léger, 1997, European journal of pediatrics.

Exploring the values, preferences, and information needs of patients with NKX2-1-related disorders: A qualitative study protocol

A. Bachoud-Lévi, Juan-Antonio Blasco-Amaro, J. Léger, 2023, PloS one.

Age at diagnosis in patients with chronic congenital endocrine conditions: a regional cohort study from a reference center for rare diseases

M. Polak, B. Donadille, P. Touraine, 2021, Orphanet Journal of Rare Diseases.

Gonadotropin administration to mimic mini-puberty in hypogonadotropic males: pump or injections?

C. Bouvattier, J. Léger, L. Martinerie, 2023, Endocrine Connections.

Association between insulin-like growth factor I (IGF-I) polymorphisms, circulating IGF-I, and pre- and postnatal growth in two European small for gestational age populations.

P. Czernichow, M. Savage, J. Dahlgren, 2003, The Journal of clinical endocrinology and metabolism.

around and after transition

M. Polak, P. Czernichow, G. Pinto, 2013 .

Response to letter to the editor (from De Zegher and Ibanes) (On the rising incidence of early breast development: puberty as an adaptive escape from ectopic adiposity in mismatch girls).

N. de Roux, J. Carel, J. Léger, 2021, European journal of endocrinology.

A novel substitution (Leu707Arg) in exon 4 of the androgen receptor gene causes complete androgen resistance.

P. Czernichow, S. Lumbroso, V. Georget, 1996, The Journal of clinical endocrinology and metabolism.

Prevalence and characteristics of gonadoblastoma in a retrospective multi-centre study with follow-up investigations of 70 patients with Turner syndrome and a 45,X/46,XY karyotype.

B. Donadille, C. Bouvattier, S. Christin‐Maitre, 2022, European journal of endocrinology.

[Diagnosis of delayed puberty].

K. Busiah, A. Harroche, J. Guilbert, 2007, Archives de pédiatrie.

The wide variation in urinary excretion of human growth hormone in normal growing and growth hormone-deficient children limits its clinical usefulness.

P. Czernichow, J. Léger, D. Porquet, 1995, Hormone research.

[Turner Syndrome: what's new in medical care?].

J. Carel, D. Zénaty, J. Léger, 2011, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Cardiovascular findings and management in Turner syndrome: insights from a French cohort.

P. Chanson, M. Polak, G. Jondeau, 2012, European journal of endocrinology.

[Neonatal screening for congenital hypothyroidism].

J. Léger, 2021, Medecine sciences : M/S.

Genotype-phenotype description of Vitamin-D Dependent Rickets 1A: CYP27B1 p.(Ala129Thr) variant induces a milder disease.

J. Bacchetta, A. Rothenbuhler, A. Linglart, 2022, The Journal of clinical endocrinology and metabolism.

Functional characterization of the novel sequence variant p.S304R in the hinge region of TSHR in a congenital hypothyroidism patients and analogy with other formerly known mutations of this gene portion.

M. Polak, N. de Roux, G. Szinnai, 2015, Journal of pediatric endocrinology & metabolism : JPEM.

Medullary thyroid carcinoma identified within the first year of life in children with hereditary multiple endocrine neoplasia type 2A (codon 634) and 2B.

J. Hugot, M. Schlumberger, P. Guillausseau, 2009, European Journal of Endocrinology.

Monocentric study of 112 consecutive patients with childhood onset GH deficiency around and after transition.

M. Polak, G. Pinto, J. Golmard, 2013, European Journal of Endocrinology.

Testicular function and physical outcome in young adult males diagnosed with idiopathic 46 XY disorders of sex development during childhood.

C. Sultan, Y. Aigrain, J. Carel, 2011, European Journal of Endocrinology.

Deletion of P399_E401 in NADPH cytochrome P450 oxidoreductase results in partial mixed oxidase deficiency.

M. Polak, C. Flück, A. Pandey, 2011, Biochemical and biophysical research communications.

Cardiovascular findings and management in Turner syndrome: insights from a French cohort.

P. Chanson, M. Polak, G. Jondeau, 2012, European journal of endocrinology.

Fetal thyroid goiter after massive iodine exposure

D. Luton, J. Oury, J. Guibourdenche, 2004, Prenatal diagnosis.

Clinical Practice Guideline: European Society for Paediatric Endocrinology Consensus Guidelines on Screening, Diagnosis, and Management of Congenital Hypothyroidism

M. Polak, H. Krude, J. Léger, 2014 .

ENDOCRINOLOGY AND ADOLESCENCE: Congenital Hypothyroidism A clinical update of long-term outcome in young adults

J. Léger, 2014 .

Factors associated with hearing impairment in patients with congenital hypothyroidism treated since the neonatal period: a national population-based study.

E. Ecosse, J. Léger, T. van den Abbeele, 2013, The Journal of clinical endocrinology and metabolism.

Urinary GH secretion correlates with plasma GH levels during sleep and GHRH stimulation tests but not during the L-dopa stimulation test in prepubertal children.

P. Czernichow, D. Evain-Brion, J. Léger, 1993, Hormone Research.

Can growth hormone treatment improve growth in children with severe growth failure due to anorexia nervosa? A preliminary pilot study

J. Carel, E. Ecosse, J. Léger, 2017, Endocrine connections.

Determining clinical and biological indicators for health outcomes in adult patients with childhood onset of congenital adrenal hyperplasia.

M. Polak, J. Golmard, P. Touraine, 2015, European journal of endocrinology.

[Hypoplasia of the penis: etiologic diagnosis and results of treatment with delayed-action testosterone].

P. Czernichow, Y. Aigrain, J. Léger, 1998, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

M. Polak, N. de Roux, G. Szinnai, 2015, Journal of pediatric endocrinology & metabolism : JPEM.