2023
Cairn
Camille Carrière et al., « Fertility and pregnancy in women with congenital adrenal hyperplasia due to 21- hydroxylase deficiency », Médecine de la Reproduction, ID : 10670/1.97a85e...
21-hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia. Increased production of adrenal-derived androgens and progesterone in women with 21-OHD interfere with their reproductive function and their fertility in many different ways, depending on the severity of the disease. Sexuality and fertility in women with classic 21-OHD is impaired, due to several issues such as a disrupted gonadotropic axis due to androgen and progesterone overproduction, and mechanical and psychological factors related to genital surgery. Fertility and fecundity in these women has improved over the years thanks to progress in surgery and multidisciplinary care, and improved knowledge about the disease and its consequences. In women with the non-classic 21-OHD form, subfertility depends on whether they receive hydrocortisone preconceptionally and during the first trimester of pregnancy to avoid increased miscarriage risk. In all cases, genetic counselling is key prior to any pregnancy.