A Case of Familial Male-limited Precocious Puberty with a Novel Mutation

Özet

Familial male-limited precocious puberty (FMPP), also known as testotoxicosis, is a rare cause of precocious puberty in males. It is causedby a mutation in the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) gene, resulting in the receptor being constitutivelyactivated. This causes excessive production of testosterone, leading to precocious puberty in males. Generally, boys present with signsof puberty, such as pubic hair growth, acne, and increased height velocity around the age of 2-4 years old. Like any other cause ofprecocious puberty, the goal of treatment is to prevent virilization and also delay closure of the epiphyseal plates to maintain adult heightpotential. Treatment, therefore, is aimed at decreasing the effects of testosterone, as well as stopping the conversion of testosterone toestrogen. Little is known about the long-term effects of treatment because the disorder is so rare. However, studies using bicalutamideand anastrozole have been promising. In this report, we present a boy with FMPP with a novel mutation in the LHCGR gene, who hasbeen responding well to therapy using both drugs.