Endocrine Abstracts

Fertility in patients with classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is lower compared to the general population, although with adequate glucocorticoid replacement treatment, comparable fecundity can be achieved. The causes of reduced fertility differ between men and women. In women with classic CAH elevated androgen and progesterone levels lead to menstrual irregularities, affecting endometrial development and ovulation. In addition, genital surgeries for virilization and urogenital anomalies can impact fertility and sexual function, resulting in fewer heterosexual relationships. Psychosexual issues also contribute to impaired fertility. Spontaneous pregnancies are less frequent, and the time to successful conception is often prolonged. Despite these challenges, with adequate glucocorticoid replacement therapy, women with classic CAH can conceive and fecundity is not impaired. In women with classic CAH achieving pregnancy is more complex than disease management during pregnancy. Successful pregnancy management necessitates a complex, individualized approach to treatment and support. In men with classic CAH, fertility is often affected by hypogonadotrophic hypogonadism and complications like testicular adrenal rest tissue (TART), which can impair spermatogenesis. However, regular monitoring and optimized glucocorticoid therapy may restore spermatogenesis. Genetic counselling is crucial to understand transmission risks and the implications for prenatal care. To prevent virilization in affected female fetuses prenatal dexamethasone treatment can be used but raises ethical and safety concerns that require careful consideration.

Key learning points: - Patients with CAH due to 21-OHD have reduced fertility compared to the general population.- With adequate replacement therapy, normal fecundity can be achieved in both female and male patients with CAH.- Reduced fertility in women with classic CAH is caused by elevated androgen and progesterone levels, psychosexual factors and the consequences of genital surgeries for virilization.- Women with classic CAH experience a prolonged time to conceive compared to healthy women.- In men with classic CAH, fertility is impacted by hypogonadotropic hypogonadism and testicular adrenal rest tissue (TART), which impairs spermatogenesis.