ESPE Abstracts (2018) 89 MTE5.1

Gonadal Function in Congenital Adrenal Hyperplasia (CAH)

Hedi Claahsen - van der Grinten


Radboud University NIjmegen Medical Centre, Nijmegen, Netherlands


Congenital adrenal hyperplasia (CAH) is a group of rare congenital disorders of the adrenal cortex due to a defect in one of the enzymes involved in steroid synthesis leading to cortisol deficiency and overproduction of adrenal androgens. In the most severe forms CAH is a life threatening disease due to the risk of Addisonian and salt wasting crisis. In the last 50 years diagnostics and treatment improved significantly. Patients are treated with lifelong replacement of glucocorticoids and, in aldosterone deficieny, also mineralocorticoids. Nowadays, most children reach puberty and adulthood without severe complications and a good quality of life. Therefore, long term complications of CAH become more important also for pediatric endocrinologist as some of these complications may have their origin already in childhood. One of the most severe complications in adult male and female CAH patients is infertility due to primary (hypergonadotropic) or secondary (hypogonadotropic) gonadal dysfunction. The most important cause of infertility in male CAH patients is the presence of testicular adrenal rest tumours (TART) leading to obstruction of the seminiferous tubule and obstructive azoospermia. Longstanding TART can lead to irreversible damage of testicular tissue. This complication already occurs during childhood and puberty. Another important factor contributing to infertility is the suppression of the hypothalamic-pituitary-gonadal axis due to high circulating levels of androgens resulting in secondary gonadal failure. In female CAH patients fertility can be impaired due to adrenal overproduction of androgens and progestins (17-hydroxyprogesterone and progesterone), ovarian hyperandrogenism (polycystic ovary syndrome), ovarian adrenal rest tumours, genital surgery, and psychological factors such as delayed psychosexual development and reduced sexual activity. In this expert meeting we will discuss different causes of gonadal dysfunction in male and female CAH patients with a special focus on their occurrence during adolescence.

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