High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic.

ABSTRACT:

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 of 20 male patients with idiopathic CPP evaluated at an academic medical center. The entire coding regions of MKRN3, KISS1 and KISS1R genes were sequenced.

Results

We studied 20 boys from 17 families with CPP. All of them had normal brain magnetic resonance imaging. Eight boys from 5 families harbored four distinct heterozygous MKRN3 mutations predicted to be del

SUBMITTER: Bessa DS 

PROVIDER: S-EPMC5195904 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature