【Objective】 To provide a descriptive analysis of familial male-limited precocious puberty(FMPP)

which is a rare inherited disease caused by heterozygous constitutively activating mutations of the luteinizing hormone/choriogonadotropin receptor gene (LHCGR) and is not well characterized in China. 【Methods】 We reported 3 cases of FMPP who had undergone LHCGR gene analysis and made a review of the literatures. 【Results】 The patient 1 and patient 3 were both 5-year-old boys who started to develop penile enlargement and accelerated height velocity at the age of 4 years. They were diagnosed with peripheral precocious puberty. There were 6 males in 4 generations of patient 1

including patient 2 (the father of patient 1)

 were reported to have similar history. Their reported adult heights ranged from 155 cm to 164.5 cm. All the three patients were found to carry the same heterozygous c.1193T>C (M398T) mutation in LHCGR gene exon 11

which was not found from the mother of patient 1 and father of patient 3. Patient 1 presented stable size of penile with no erection and slowed down growth velocity with no side effect on the combined treatment of letrozole and spironolactone. 【Conclusion】 Genetic analysis can be a useful diagnostic tool especially for sporadic FMPP cases. Combined treatment with aromatase inhibitor and anti-androgen agent can relief the symptoms and improve adult height.