A Case of Familial Male-Limited Precocious Puberty with Mutation of (LHCGR) Gene, Peru Experience

Aims: To describe a case of familial male-limited precocious puberty (FMPP) that has been responding well to therapy with non-steroidal antiandrogen (bicalutamide), third-generation non-steroidal aromatase inhibitors letrozole - anastrozole and triptorelin.

Presentation of Case: We present a 4-years-10months old, male child with FMPP, due to mutation in the luteinizing hormone/chorionic gonadotropin receptor LHCGR gene who presented with precocious puberty. We describe his clinical and biochemical response to treatment after 41 months of follow-up.

Discussion and Conclusion: FMPP, also known as testotoxicosis, is a rare cause of precocious puberty in males that is still being studied. It is caused by a mutation in LHCGR gene, resulting in the receptor being constitutively activated. This causes excessive production of testosterone, leading to precocious puberty in males. Therapy is aimed to decrease the effects of testosterone, as well as stopping the conversion of testosterone to estrogen, in this direction using bicalutamide and anastrozole have been promising. No therapy guidelines have been established for this condition. Because of the limited number of reported cases, small sample sizes, and short-term outcomes. In this case report contributes with favorable findings, regarding the use of antiandrogen therapy and third-generation aromatase inhibitors in the treatment of FMPP and highlights on the importance of monitoring growth. Also adds to the literature by demonstrating a (LHCGTR) receptor gene mutation that responded well to a combination of bicalutamide and anastrozole.