| Fertility in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. | |
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MedLine Citation:
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PMID: 20080854 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Maud Bidet; Christine Bellann?-Chantelot; Marie-B?atrice Galand-Portier; Jean-Louis Golmard; V?ronique Tardy; Yves Morel; S?verine Clauin; Christiane Coussieu; Philippe Boudou; Irene Mowzowicz; Anne Bachelot; Philippe Touraine; F Kuttenn |
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Publication Detail:
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Type: Journal Article Date: 2010-01-15 |
Journal Detail:
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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:
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Created Date: 2010-03-05 Completed Date: 2010-03-31 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0375362 Medline TA: J Clin Endocrinol Metab Country: United States |
Other Details:
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Languages: eng Pagination: 1182-90 Citation Subset: AIM; IM |
Affiliation:
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Department of Reproductive Endocrinology, H?pital Piti?-Salp?tri?re, 47 Boulevard de l'H?pital, 75013 Paris, France. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abortion, Spontaneous
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genetics Adrenal Hyperplasia, Congenital / complications*, drug therapy, genetics Adult Chi-Square Distribution Female Glucocorticoids / therapeutic use Humans Infertility, Female / etiology* Mutation Pedigree Pregnancy Pregnancy Outcome / genetics* Steroid 21-Hydroxylase / genetics* |
| Chemical | |
Reg. No./Substance:
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0/Glucocorticoids; EC 1.14.99.10/Steroid 21-Hydroxylase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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