Shinagawa T, Katsumata N, Sato N, Horikawa R, Tanae A, Tanaka T
Department of Endocrinology and Metabolism, National Children's Medical Research Center, Tokyo, Japan.
Endocr J. 2000 Dec;47(6):777-82. doi: 10.1507/endocrj.47.777.
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.
家族性男性限性性早熟（FMPP）是一种由促黄体生成素受体（LH-R）基因的组成性激活突变引起的罕见疾病。在本研究中，我们分析了一个日本FMPP家族成员的LH-R基因。该家族的两名男性患病，均有杂合的M398T突变；一名患者早在2岁时就出现青春期体征，另一名在6岁时出现。两名患者的血清睾酮水平均升高，促性腺激素分泌处于青春期前水平。后一名患者的父亲携带M398T突变，但无性早熟病史。因此，在同一家庭中具有相同LH-R突变的三名男性中观察到了表型差异。总之，我们描述了一个患有FMPP的日本家族。
