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Article

Molecular analysis of MKRN3 gene in Turkish girls with sporadic and familial idiopathic central precocious puberty.

Journal of pediatric endocrinology & metabolism : JPEM - 25 Apr 2023

Kırkgöz Tarık, Kaygusuz Sare Betül, Alavanda Ceren, Helvacıoğlu Didem, Abalı Zehra Yavaş, Tosun Büşra Gürpınar, Eltan Mehmet, Menevşe Tuba Seven, Guran Tulay, Arman Ahmet, Turan Serap, Bereket Abdullah

Abstract excerpt

OBJECTIVES: Central precocious puberty (CPP) develops as a result of early stimulation of the hypothalamic-pituitary-gonadal (HPG) axis. The loss-of-function mutations in the Makorin-ring-finger3 (MKRN3) gene appear to be the most common molecular cause of familial CPP. We aimed to identify MKRN3 gene mutations in our CPP cohort and to investigate the frequency of MKRN3 mutations. METHODS: 102 patients with CPP...

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PMID: 36883204
DOI: 10.1515/jpem-2022-0645

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