Reproductive and fertility challenges in adolescents with congenital adrenal hyperplasia

Congenital adrenal hyperplasia (CAH) carries reproductive implications that begin to manifest in childhood and adolescence and extend into adulthood. This review examines the reproductive challenges that emerge during adolescence in individuals with CAH and discusses strategies to optimize long-term reproductive outcomes. In females, reproductive outcomes are shaped by endocrine dysregulation, psychosexual development, prior genital surgery and psychosocial factors, with women with classic CAH showing reduced birth rates compared to the general population and more severe genotypes associated with poorer outcomes. In classic CAH, androgen excess and elevated 17-hydroxyprogesterone impair ovulation, menstrual regularity and endometrial receptivity. In non-classic CAH, fertility is generally less affected, although delayed diagnosis and untreated hyperandrogenism may still contribute to subfertility. Psychosexual development poses additional challenges in females with classic CAH, shaped by prenatal androgen exposure, surgical interventions and body image concerns. In males with classic CAH, fertility impairment arises primarily from hypogonadotropic hypogonadism and testicular adrenal rest tumors, which often develop during puberty and may compromise spermatogenesis. In contrast, fertility issues in males with non-classic CAH are uncommon. Adolescence is a particularly sensitive period, with potential delays in sexual development, relationship formation, and heightened psychosocial vulnerability. Therefore, it represents a critical window for anticipatory guidance and transition care, encompassing early discussion of fertility, genetic counseling and future reproductive options. Optimized hormonal treatment before conception is central to improving reproductive outcomes. Overall, a multidisciplinary, developmentally sensitive approach is essential to support long-term reproductive health and quality of life in patients with CAH.