Infertility in a man with 21-hydroxylase deficient congenital adrenal hyperplasia

Congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency in men can cause profound oligospermia. The mechanism for this condition is overproduction of adrenal androgens, which in turn inhibit gonadotropin secretion. Men with a mild subclinical form of congenital adrenal hyperplasia may remain undiagnosed until adulthood. We report on a man who presented with infertility secondary to profound oligospermia. The treatment of this condition resulted in improved semen quality and subsequent conception. The importance of family history and determining whether precocious puberty was present, as well as obtaining appropriate laboratory tests is discussed.