Article
Japanese familial patients with male-limited precocious puberty.
Endocrine journal - 1 Dec 2000
Shinagawa T, Katsumata N, Sato N, Horikawa R, Tanae A, Tanaka T
Abstract excerpt
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...
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