Classical and non-classical congenital adrenal hyperplasia: What is the difference in subsequent fertility? - 28/05/22

Doi : 10.1016/j.ando.2022.04.007

Camille Carrière ^a, Cynthia Sarfati ^a,^b, Isabelle Téjédor ^a, Jérôme Dulon ^a, Zeina Chakhtoura ^a, Carine Courtillot ^a, Anne Bachelot ^a,^b,^⁎
^a AP–HP, IE3M, hôpital Pitié-Salpêtrière, department of endocrinology and reproductive medicine and Centre de référence des maladies endocriniennes rares de la croissance, centre de référence des pathologies gynécologiques Rares, ICAN, Paris, France
^b Sorbonne Université, Paris, France

^⁎Corresponding author at: IE3M, Department of Endocrinology and Reproductive Medicine, Groupe Hospitalier Pitié-Salpétrière, 47-83, boulevard de l’Hôpital, 75013 Paris, France.IE3M, Department of Endocrinology and Reproductive Medicine, Groupe Hospitalier Pitié-Salpétrière47-83, boulevard de l’HôpitalParis75013France

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Abstract

21-Hydroxylase deficiency (21OHD) is the most common cause of congenital adrenal hyperplasia. Increased production of adrenal-derived androgens and progesterone in 21OHD women 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 21OHD is impaired, due to several issues such as disrupted gonadotropic axis due to androgen and progesterone overproduction, and mechanical, psychological factors related to genital surgery. Fertility and fecundity in these women get better over the years. Subfertility seems contrariwise to be relative in non-classic 21OHD women. Before pregnancy, genotyping the partner and genetic counselling is mandatory.

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Keywords : Congenital adrenal hyperplasia, 21 hydroxylase deficiency, Fertility, Pregnancy