Reproductive and perinatal outcomes in women with congenital adrenal hyperplasia - a population-based cohort study.

CONTEXT Reduced fertility has been reported for women with congenital adrenal hyperplasia (CAH), especially for those with the salt-losing form. However, data are sparse on reproductive and perinatal outcomes in these women. OBJECTIVE To investigate reproductive and perinatal outcomes in women with CAH. DESIGN AND SETTING Population-based and nationwide study using the National CAH Register, the Total Population Register and the Medical Birth Register of Sweden. PARTICIPANTS 272 women with CAH due to 21-hydroxylase deficiency and 27 200 controls matched by sex, age and place of birth. The median age was 31 years. MAIN OUTCOME MEASURES The proportion of CAH women that have given birth, reproductive and perinatal outcomes. RESULTS Of the 272 women with CAH, 69 gave birth to at least one child (25.4%), which was a lower frequency than for the controls (45.8%) (p<0.001). Furthermore, women with CAH had fewer children than controls and were slightly older at birth of their first child. More women with CAH were diagnosed with gestational diabetes than controls, 4.9% vs 1.4% (p<0.05), and more women with CAH were delivered through caesarean section, 51.4% vs 12.3% (p<0.05). There was no difference in Apgar score or frequency of small-for-gestational age between children born to mothers with CAH and controls. CONCLUSIONS This is, to our knowledge, the largest cohort designed to investigate reproductive and perinatal outcomes in women with CAH. We found the birth rate to be lower in women with CAH, gestational diabetes and caesarean section were more common, but perinatal outcomes were comparable to controls.

[1]  K. Badenhoop,et al.  Current management and outcome of pregnancies in women with adrenal insufficiency: experience from a multi-center survey. , 2020, The Journal of clinical endocrinology and metabolism.

[2]  W. Ming,et al.  Incidence Rate of Type 2 Diabetes Mellitus after Gestational Diabetes Mellitus: A Systematic Review and Meta-Analysis of 170,139 Women , 2020, Journal of diabetes research.

[3]  N. Reisch.  Pregnancy in Congenital Adrenal Hyperplasia. , 2019, Endocrinology and metabolism clinics of North America.

[4]  B. Mendonca,et al.  Classic congenital adrenal hyperplasia and its impact on reproduction. , 2019, Fertility and sterility.

[5]  H. Falhammar,et al.  MANAGEMENT OF ENDOCRINE DISEASE: Diagnosis and management of the patient with non-classic CAH due to 21-hydroxylase deficiency. , 2019, European journal of endocrinology.

[6]  M. Murad,et al.  Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline. , 2018, The Journal of clinical endocrinology and metabolism.

[7]  D. Abbott,et al.  Androgens in maternal vascular and placental function: implications for preeclampsia pathogenesis , 2018, Reproduction.

[8]  N. Zelinska.  Вроджена гіперплазія надниркових залоз внаслідок дефіциту 21-гідроксилази. Клінічні практичні настанови Ендокринологічного Товариства. Частина 1 , 2018 .

[9]  J. Słowikowska-Hilczer,et al.  Fertility outcome and information on fertility issues in individuals with different forms of disorders of sex development: findings from the dsd-LIFE study. , 2017, Fertility and sterility.

[10]  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.

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

[12]  F. Keleştimur,et al.  Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women. , 2017, Human reproduction update.

[13]  Tomoaki Tanaka,et al.  High serum progesterone associated with infertility in a woman with nonclassic congenital adrenal hyperplasia , 2017, The journal of obstetrics and gynaecology research.

[14]  Wiebke Arlt,et al.  Congenital adrenal hyperplasia , 1966, The Lancet.

[15]  H. Falhammar,et al.  Increased Cardiovascular and Metabolic Morbidity in Patients With 21-Hydroxylase Deficiency: A Swedish Population-Based National Cohort Study. , 2015, The Journal of clinical endocrinology and metabolism.

[16]  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.

[17]  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.

[18]  D. Jain.  Fertility and pregnancy outcome in a woman with classic congenital adrenal hyperplasia , 2013, BMJ Case Reports.

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

[20]  T. Yuen,et al.  Genotype–phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency , 2013, Proceedings of the National Academy of Sciences.

[21]  C. Chrelias,et al.  Infertility reversed by glucocorticoids and full-term pregnancy in a couple with previously undiagnosed nonclassic congenital adrenal hyperplasia. , 2011, Fertility and sterility.

[22]  M. Shichiri,et al.  A woman with salt-wasting congenital adrenal hyperplasia presenting with a mucinous ovarian cystadenoma during pregnancy. , 2011, Internal medicine.

[23]  H. Falhammar.  Non-classic congenital adrenal hyperplasia due to 21-hydoxylase deficiency as a cause of infertility and miscarriages. , 2010, The New Zealand medical journal.

[24]  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.

[25]  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.

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

[27]  W. James.  The sex ratio of offspring of women with congenital adrenal hyperplasia. , 2008, Human reproduction.

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

[29]  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.

[30]  C. Bouvattier,et al.  Impaired sexual and reproductive outcomes in women with classical forms of congenital adrenal hyperplasia. , 2007, The Journal of clinical endocrinology and metabolism.

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

[32]  M. New,et al.  Pregnancy Outcomes in Women with Classical Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency , 2005, Journal of pediatric endocrinology & metabolism : JPEM.

[33]  J. Bennek,et al.  Pregnancies in patients with congenital adrenal hyperplasia with complete or almost complete impairment of 21-hydroxylase activity. , 2004, Fertility and sterility.

[34]  A. Roscher,et al.  Mothers with congenital adrenal hyperplasia and their children: outcome of pregnancy, birth and childhood , 2001, Clinical endocrinology.

[35]  J. Lo,et al.  Pregnancy outcomes in women with congenital virilizing adrenal hyperplasia. , 2001, Endocrinology and metabolism clinics of North America.

[36]  R. Voutilainen,et al.  Child rate, pregnancy outcome and ovarian function in females with classical 21‐hydroxylase deficiency , 2000, Acta obstetricia et gynecologica Scandinavica.

[37]  B. Källén,et al.  A Quality Study of a Medical Birth Registry , 1990, Scandinavian journal of social medicine.