Japanese Familial Patients with Male-Limited Precocious Puberty

[摘要] References(17)Cited-By(6)Familial male-limited precocious puberty (FMPP) is a rare disease caused by constitutively activating mutations in the luteinizing hormone receptor (LH-R) gene. In the present study, we analyzed the LH-R gene in members of a Japanese FMPP family. Two males of the family were affected and had a heterozygous M398T mutation; one patient developed pubertal signs as early as 2 years of age, and the other at 6 years of age. Both patients had elevated serum testosterone levels and prepubertal gonadotropin secretions. The father of the latter patient carried the M398T mutation, but lacked history of precocious puberty. Thus, phenotypic differences were observed in the three males with the same LH-R mutation belonging to the same family. In summary, we have described a Japanese family with FMPP.

[学科分类] 内分泌与代谢学

[关键词] Familial male-limited precocious puberty (FMPP);Luteinizing hormone receptor (LH-R);Constitutively activating mutation;Phenotypic heterogeneity