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Fertility in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
J Clin Endocrinol Metab. 2010 Mar; 95(3):1182-90.JC

Abstract

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.

Authors+Show Affiliations

Department of Reproductive Endocrinology, Hôpital Pitié-Salpêtrière, 47 Boulevard de l'Hôpital, 75013 Paris, France.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

20080854

Citation

Bidet, Maud, et al. "Fertility in Women With Nonclassical Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency." The Journal of Clinical Endocrinology and Metabolism, vol. 95, no. 3, 2010, pp. 1182-90.
Bidet M, Bellanné-Chantelot C, Galand-Portier MB, et al. Fertility in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2010;95(3):1182-90.
Bidet, M., Bellanné-Chantelot, C., Galand-Portier, M. B., Golmard, J. L., Tardy, V., Morel, Y., Clauin, S., Coussieu, C., Boudou, P., Mowzowicz, I., Bachelot, A., Touraine, P., & Kuttenn, F. (2010). Fertility in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. The Journal of Clinical Endocrinology and Metabolism, 95(3), 1182-90. https://doi.org/10.1210/jc.2009-1383
Bidet M, et al. Fertility in Women With Nonclassical Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency. J Clin Endocrinol Metab. 2010;95(3):1182-90. PubMed PMID: 20080854.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Fertility in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. AU - Bidet,Maud, AU - Bellanné-Chantelot,Christine, AU - Galand-Portier,Marie-Béatrice, AU - Golmard,Jean-Louis, AU - Tardy,Véronique, AU - Morel,Yves, AU - Clauin,Séverine, AU - Coussieu,Christiane, AU - Boudou,Philippe, AU - Mowzowicz,Irene, AU - Bachelot,Anne, AU - Touraine,Philippe, AU - Kuttenn,F, Y1 - 2010/01/15/ PY - 2010/1/19/entrez PY - 2010/1/19/pubmed PY - 2010/4/1/medline SP - 1182 EP - 90 JF - The Journal of clinical endocrinology and metabolism JO - J Clin Endocrinol Metab VL - 95 IS - 3 N2 - 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. SN - 1945-7197 UR - https://www.unboundmedicine.com/medline/citation/20080854/Fertility_in_women_with_nonclassical_congenital_adrenal_hyperplasia_due_to_21_hydroxylase_deficiency_ L2 - https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.2009-1383 DB - PRIME DP - Unbound Medicine ER -