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  • Title: [Familial male-limited precocious puberty].
    Author: Katsumata N, Tanaka T.
    Journal: Nihon Rinsho; 1997 Nov; 55(11):2959-62. PubMed ID: 9396295.
    Abstract:
    Familial male-limited precocious puberty (FMPP) is a gonadotropin-independent disorder that is inherited in an autosomal dominant, male-limited pattern. Affected males generally exhibit signs of puberty by the age of 4 years. Testosterone production and Leydig cell hyperplasia occur autonomously in context of prepubertal levels of luteinizing hormone (LH). The LH receptor is a member of the family of G-protein-coupled receptors. Thus far, eleven constitutively activating mutations of the LH receptor gene, which result in high basal cyclic AMP levels, have been identified in pedigree with FMPP and in sporadic cases. It has been suggested that some of the mutations have effects on the Gq coupling and phospholipase-C activation in addition to their effects on Gs coupling and activation of adenylate cyclase.
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