Article
High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic.
Neuroendocrinology - 1 Jan 2017
Bessa Danielle S, Macedo Delanie B, Brito Vinicius N, França Monica M, Montenegro Luciana R, Cunha-Silva Marina, Silveira Leticia G, Hummel Tiago, Bergadá Ignacio, Braslavsky Debora, Abreu Ana Paula, Dauber Andrew, Mendonca Berenice B, Kaiser Ursula B, Latronico Ana Claudia
Abstract excerpt
BACKGROUND/AIMS: Recently, loss-of-function mutations in the MKRN3 gene have been implicated in the etiology of familial central precocious puberty (CPP) in both sexes. We aimed to analyze the frequency of MKRN3 mutations in boys with CPP and to compare the clinical and hormonal features of boys with and without MKRN3 mutations. METHODS: This was a retrospective review of clinical, hormonal and genetic features...
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