Puberty and fertility in congenital adrenal hyperplasia.

Congenital adrenal hyperplasia (CAH) is a disorder of adrenal steroid synthesis. The symptoms and signs of CAH depend on the degree of enzyme deficiency; severe salt-wasting (SW) form, less severe simple virilizing (SV) form and mild nonclassic (NC) form. In this paper, puberty and fertility in CAH are discussed. The time of onset of puberty and progress of pubertal development is quite normal, except in NC patients (earlier). Also the age of menarche in CAH girls is normal, but it can depend on the level of therapeutic control. In prepuberty, bone age is advanced. In puberty, peak height velocity is normal but occurs at a younger age and can therefore be considered to be low (compared to healthy early maturers). In puberty there seems to be an increased sensitivity for glucocorticoids leading to growth inhibition. All three above factors can play a role in reducing adult height. Subfertility is frequently found in both female and male CAH patients. In females, the pregnancy rate depends on the severity of 21-hydroxylase deficiency (SW<SV<NC). Adrenal progestagens and androgens are the main cause of disturbed ovarian activity. In addition psychosexual problems (e.g. as a result of genital surgery) are an important factor. In males, the main cause of subfertiltiy is the presence of testicular adrenal rest tumors, which are thought to originate from aberrant adrenal tissue and respond to treatment with glucocorticoids. Although in general fertility is not a paediatric item, in CAH most fertility problems have their origins in childhood years. Therefore prevention of subfertility has to be implemented as a treatment goal in paediatric endocrinology from the start of puberty.