Article
Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys: a novel constitutively activating mutation in the first transmembrane helix.
The Journal of clinical endocrinology and metabolism - 1 Dec 2000
Latronico A C, Shinozaki H, Guerra G, Pereira M A, Lemos Marini S H, Baptista M T, Arnhold I J, Fanelli F, Mendonca B B, Segaloff D L
Abstract excerpt
Naturally occurring activating mutations in the human LH receptor (hLHR) gene are the cause of sporadic or familial male gonadotropin-independent precocious puberty. We have previously reported three different activating mutations of the hLHR gene in four unrelated Brazilian boys with male-limited precocious puberty. In the current study, we examined three other Brazilian boys, two brothers and one unrelated boy,...
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