Document Detail

Fertility in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
MedLine Citation:
PMID:  20080854     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: In contrast to subfertility often reported in women suffering from the classical form of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, fertility in nonclassical CAH (NC-CAH) has been rarely studied. Our objective was to evaluate fertility in NC-CAH women.
MATERIAL AND METHODS: We studied 190 NC-CAH women (161 probands + 29 first degree relatives). Only 20 probands had consulted for infertility (12%), either alone or associated with hirsutism or menstrual cycle disorders. The diagnosis was established on post-ACTH 17-hydroxyprogesterone 10 ng/ml or greater and further characterized by CYP21A2 gene analysis.
RESULTS: Ninety-five of the 190 women wanted pregnancy (aged 26.7 +/- 8.9 yr); 187 pregnancies occurred in 85 women, which resulted in 141 births in 82 of them. Ninety-nine pregnancies (52.9%) occurred before the diagnosis of NC-CAH (96 spontaneously and three with ovulation inducers) whereas 98 occurred after diagnosis (11 spontaneously and 77 with hydrocortisone treatment); 83% of pregnancies were obtained within 1 yr. The rate of miscarriages was 6.5% for pregnancies obtained with glucocorticoid treatment vs. 26.3% without. Two of the 141 infants (1.5%) were born with classical CAH.
CONCLUSION: Subfertility is mild in NC-CAH. However, the rate of miscarriages is lower in pregnancies occurring with glucocorticoid treatment and argues for treating NC-CAH women wanting pregnancy. In addition, considering the high rate of heterozygotes for CYP21A2 mutations in the general population, it is essential to genotype the partner of patients with a severe mutation to predict the risk of classical CAH and offer genetic counseling.
Maud Bidet; Christine Bellanné-Chantelot; Marie-Béatrice Galand-Portier; Jean-Louis Golmard; Véronique Tardy; Yves Morel; Séverine Clauin; Christiane Coussieu; Philippe Boudou; Irene Mowzowicz; Anne Bachelot; Philippe Touraine; F Kuttenn
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Publication Detail:
Type:  Journal Article     Date:  2010-01-15
Journal Detail:
Title:  The Journal of clinical endocrinology and metabolism     Volume:  95     ISSN:  1945-7197     ISO Abbreviation:  J. Clin. Endocrinol. Metab.     Publication Date:  2010 Mar 
Date Detail:
Created Date:  2010-03-05     Completed Date:  2010-03-31     Revised Date:  2014-07-30    
Medline Journal Info:
Nlm Unique ID:  0375362     Medline TA:  J Clin Endocrinol Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1182-90     Citation Subset:  AIM; IM    
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MeSH Terms
Abortion, Spontaneous / genetics
Adrenal Hyperplasia, Congenital / complications*,  drug therapy,  genetics
Chi-Square Distribution
Glucocorticoids / therapeutic use
Infertility, Female / etiology*
Pregnancy Outcome / genetics*
Steroid 21-Hydroxylase / genetics*
Reg. No./Substance:
0/Glucocorticoids; EC 21-Hydroxylase

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