High Frequency of <b><i>MKRN3</i></b> Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic

Abstract

We demonstrated a high frequency of MKRN3 mutations in boys with CPP, previously classified as idiopathic, suggesting the importance of genetic analysis in this group. The boys with CPP due to MKRN3 mutations had classical features of CPP, but with puberty initiation at a borderline age.