hrp0086p1-p752 | Pituitary and Neuroendocrinology P1 | ESPE2016

A Novel MKRN3 Frameshift Mutation in a Bulgarian Girl with Central Precocious Puberty

Dimitrova Mihaela , Stefanova Elisaveta , Glushkova Maria , Todorova Albena , Todorov Tihomir , Konstantiva Maia , Kazakova Krasimira , Tincheva Radka

Background: Precocious puberty is defined as the onset of pubertal signs in girls younger than 8 years of age and in boys younger than 9 years of age. Central precocious puberty is due to an early activation of the hypothalamic-pituitary-gonadal axis. Different candidate genes were involved in the etiology of the disease. To date, mutations in the maternally imprinted gene MKRN3 are most frequently found in families with CPP.Objective and hypotheses: The...