Efficacy and safety analysis of 9-year combined drug therapy for a case of familial male-limited precocious puberty
CHEN Meng
YAO Hui
LAN Tian
Abstract：Currently,there are few reports on the long-term efficacy in familial male-limited precocious puberty(FMPP)in China.This article reports the clinical characteristics,genetic testing result,and the treatment effects and safety during a 9-year follow-up of a child with FMPP caused by an activating mutation of the LHCGR gene.The male patient presented with penis enlargement and accelerated growth at one year and six months old.Based on his serum testosterone level,LHRH stimulation test result,bone age and other auxiliary examinations,he was initially diagnosed with peripheral precocious puberty.Genetic detection revealed a missense mutation of the LHCGR gene exon11 in the patient and his mother,resulting in the mutation of amino acid 532 from leucine to arginine(p.L532A,a suspected new mutation site),and the boy was finally diagnosed with FMPP.After combined treatment with letrozole,medroxyprogesterone,and triptorelin acetate for more than 9 years,the child achieved a satisfactory final height without any obvious adverse reactions.This study accumulates experience in the diagnosis and treatment of FMPP and expands the mutation spectrum of the LHCGR gene.
Keywords：familial male-limited precocious pubertyLHCGR geneefficacysafety
Publication Date：2025-09-06
Online Publishing Date：2025-11-05(First online date of this platform, not the publication date of the document)
Pages：4( 784-787 )