Abstract: Objective To investigate the pathogenic gene mutations and clinical characteristics in a patient with compound heterozygote gene mutations in luteinizing hormone/choriogonadotropin receptor (LHCGR) gene. Methods Clinical features, laboratory data and radiologic manifestations were collected. The whole exon was sequenced. Pathogenicity of the mutations was evaluated by using the Mutation Taster, PANTHER software. The relationship of the splice site mutation and the phenotype of the LHCGR gene was investigated by literature review. Results 1)The patient presented with a micropenis.2)The level of gonadotropins was high but level of testosterone was low. 3)Compound heterozygotic mutations including a splicing mutation (c.233+1G＞A) and a missense mutation (c.547G＞A) were identified in LHCGR gene. Both variations were derived from his parents with normal epitope so it was the first case reported in this familiy. 4)The patient had a good response to testosterone therapy. Conclusions LHCGR mutation may cause micropenis. Our report expands the spectrum of clinical manifestations and mutation of LHCGR gene.

Key words: micropenis, luteinizing hormone/choriogonadotropin receptor(LHCGR), splicing mutation