The role of MKRN3 gene on central precocious puberty

Authors : Ezgi Burgaç, Leman Damla Kotan Gedik, İhsan Turan, Yılmaz Kor, Bilgin Yüksel

Pages : 1181-1186

Doi:10.17826/cumj.1659996

View : 85 | Download : 246

Publication Date : 2025-12-22

Article Type : Research Paper

Abstract :Purpose: Central precocious puberty (CPP), which is characterized by premature activation of the hypothalamus-pituitary-gonadal axis, is more common in girls. Although genetic factors, such as mutations in MKRN3, have been identified, their role in CPP remains a subject of investigation. This study aimed to evaluate the role of MKRN3 in CPP development. Materials and Methods: This retrospective study included 70 patients with CPP. Demographic, anthropometric, and laboratory data were collected. Genetic analysis of MKRN3 pathogenic variants was performed in 22 patients using Sanger sequencing, following DNA isolation. Results: Seventy patients were diagnosed with CPP, of which 62(88.5%) were female and 8(11.5%) were male. The mean age of symptom onset was 7.1 years for girls and 5.7 years for boys, with the mean age at diagnosis being 7.8 years and 5.9 years, respectively. The mean age of the patients in whom the mutations were investigated was 7.8 years. Genetic analysis revealed no pathogenic MKRN3 variants. The rs2239669 variant, classified as benign, was detected in 11 heterozygous and in one patient in homozygous form. Conclusion: The detection of only a benign variant in MKRN3, with no pathogenic variants identified, may be attributed to the absence of a positive family history in all patients and the relatively higher mean age of the cohort. A limitation of this study is the small number of patients analyzed genetically and the inability to assess other genes related to central precocious puberty.
Keywords : Erken ergenlik, Santral erken puberte, MKRN3 geni

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