Article
Heterogeneity of activating mutations of the human luteinizing hormone receptor in male-limited precocious puberty.
Biochemical and molecular medicine - 1 Aug 1996
Laue L, Wu S M, Kudo M, Hsueh A J, Cutler G B, Jelly D H, Diamond F B, Chan W Y
Abstract excerpt
Male-limited precocious puberty (MPP) is a gonadotropin-independent disorder that occurs sporadically or is inherited in an autosomal dominant, male-limited pattern. Recent studies have identified constitutively activating missense mutations in the human luteinizing hormone receptor (hLHR) gene leading to Leydig cell activation and precocious puberty. Patients with sporadic MPP (SMPP) or with different ethnic...
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