Article
Central precocious puberty in a girl and early puberty in her brother caused by a novel mutation in the MKRN3 gene.
The Journal of clinical endocrinology and metabolism - 1 Apr 2014
Settas Nikolaos, Dacou-Voutetakis Catherine, Karantza Maria, Kanaka-Gantenbein Christina, Chrousos George P, Voutetakis Antonis
Abstract excerpt
CONTEXT: Central precocious puberty (CPP), defined as the development of secondary sex characteristics prior to age 8 years in girls and 9 years in boys, results from the premature activation of the hypothalamic-pituitary-gonadal axis. Mutations in the imprinted gene MKRN3 have been recently implicated in familial cases of CPP. OBJECTIVE: The objective of the study was to uncover the genetic cause of CPP in a...
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