[Steroid 21-hydroxylase deficiencies and female infertility: pathophysiology and management].
Steroid 21-hydroxylase deficiency is the most common adrenal genetic disease and is also named congenital adrenal hyperplasia. Depending on the severity of CYP21A2 gene mutations, there are severe or "classical" forms and moderate or "nonclassical" forms of 21-hydroxylase deficiency. The enzyme deficiency causes a disruption of adrenal steroidogenesis, which induces hyperandrogenism and elevated plasma levels of progesterone and 17-hydroxyprogesterone, the two substrates of 21-hydroxylase. These endocrine abnormalities will disrupt gonadal axis, endometrial growth and maturation and finally secretion of cervical mucus. All these phenomena contribute to a female hypofertility. Infertility is more severe in classical forms. When to become pregnant, treatment with hydrocortisone or dexamethasone can limit the production of adrenal androgens and progesterone and improves spontaneous pregnancy rates while minimizing the risk of miscarriage, which is usually relatively high in this disease. When planning pregnancy in patients with a 21-hydroxylase deficiency, genotyping the partner is required to screen for heterozygozity (1/50) and to assess the risk of transmission of a classical form in the progeny.
Service de gynécologie endocrinienne et médecine de la reproduction, hôpital Jeanne-de-Flandre, CHRU de Lille, avenue Eugène-Avinée, 59037 Lille cedex, France; Service de gynécologie médicale, orthogénie et médecine du couple, hôpital Jeanne-de-Flandre, CHRU de Lille, avenue Eugène-Avinée, 59037 Lille cedex, France. Electronic address: geoffroy.robin@chru-lille.fr.
G
G
Robin
Service de gynécologie endocrinienne et médecine de la reproduction, hôpital Jeanne-de-Flandre, CHRU de Lille, avenue Eugène-Avinée, 59037 Lille cedex, France.
C
C
Decanter
Service de gynécologie médicale, orthogénie et médecine du couple, hôpital Jeanne-de-Flandre, CHRU de Lille, avenue Eugène-Avinée, 59037 Lille cedex, France.
H
H
Baffet
Service de gynécologie endocrinienne et médecine de la reproduction, hôpital Jeanne-de-Flandre, CHRU de Lille, avenue Eugène-Avinée, 59037 Lille cedex, France.
S
S
Catteau-Jonard
Service de gynécologie endocrinienne et médecine de la reproduction, hôpital Jeanne-de-Flandre, CHRU de Lille, avenue Eugène-Avinée, 59037 Lille cedex, France.
D
D
Dewailly
D000312:Adrenal Hyperplasia, Congenital / Q000150:complications* / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening; D005838:Genotype; D006801:Humans; D017588:Hyperandrogenism / Q000150:complications; D007247:Infertility, Female / Q000235:genetics* / Q000628:therapy; D009154:Mutation; D011247:Pregnancy; D011374:Progesterone / Q000097:blood; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
D011374:Progesterone; D013255:Steroid 21-Hydroxylase
Congenital adrenal hyperplasia; Déficit en 21-hydroxylase; Gene CYP21A2; Glucocorticoïdes; Gène CYP21A2; Hyperandrogenism; Hyperandrogénie; Hyperplasie congénitale des surrénales; Infertility; Infertilité; Steroid 21-hydroxylase deficiency