J Clin Endocrinol Metab 2014 Apr 17;99(4):E647-51. Epub 2014 Jan 17.
Division of Endocrinology, Metabolism, and Diabetes, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, "Aghia Sophia" Children's Hospital, GR-11527 Athens, Greece.
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 family with two affected siblings. Read More