Familial, gonadotropin-independent, male-limited sexual precocity is a rare affection leading to precocious signs of puberty in boys (between 2 and 5 years of age). Patients display increased testosterone secretion but decreased secretion of gonadotropins, even after stimulation with luteinizing hormone-releasing hormone (LHRH). The condition may be sporadic or transmitted as a dominant trait; its expression is limited to males. The diagnosis excludes the other causes of precocious puberty with low levels of gonadotropins (adrenal tumors, testicular Leydig cell tumors, adrenal enzymatic blocks, human chorionic gonadotropin (HCG)-secreting tumors, occult intake of androgens). The diagnosis is confirmed by the discovery of a specific mutation activating the LH receptor. Treatment consists of reducing hyperandrogenism in children (sexual maturation, stature), with ketoconazole or a combination of spironolactone/aromatase inhibitors.
Last update: February 2005