[Nonclassic congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency]

Nonclassic CAH, also termed as late onset of CAH, is a very mild form of 21-hydroxylase deficiency. The incidence of disease is estimated at 0.1% of population. Nonclassic CAH is usually diagnosed in the childhood before the age of 6 to 8 years as premature pubarche. The disease is not common in the infants and usually not before 6 to 8 months. This is a case report of 7-month female infant who was suspected of mild hyperandrogenism because of premature pubarche. The diagnosis was confirmed by mild basal elevation of 17-OHP (5.55 ng/ml) and characteristic hyper-response to ACTH, reaching values of 21 ng/ml, as well as accelerated bone maturation. The conventional treatment of NCAH was initiated, with glucocorticoid therapy (hydrocortisone) for one year and a half. After that period, our decision was to discontinue the hormonal therapy because of the impression that hyperandrogenism was mild (mild deficiency of the enzymes for steroid hormone synthesis). Child's growth, development and maturation are under constant control.