Akademik Veri Yönetim Sistemi
NAMIK KEMAL MEDICAL JOURNAL, cilt.13, sa.2, ss.164-169, 2025 (ESCI, TRDizin)
Aim: Infertility is primarily caused by premature ovarian insufficiency (POI). Since multiple genes have been linked to the genetic foundation of POI, the genetic investigation of the condition needs to be a component of the clinical diagnosis. Analyzing the genetic background of POI in a Turkish cohort was the goal of our investigation. Materials and Methods: The onset age ranged from 18 to 39 years old. Every patient was prescreened for the most common POI-associated fragile-X premutation premutation and had the karyotype 46,XX. Next-generation sequencing (NGS) of 26 genes previously linked to POI was performed on 68 unrelated individuals from T & uuml;rkiye in order to detect genetic changes. Results: We examined the DNA samples of 68 unrelated POI patients in order to use targeted panel sequencing to find possible causal variations of the disease. Three POI-related genes in our sample had three heterozygous variants of unclear significance and one heterozygous potentially pathogenic gene. These variants were related to 3 genes: Newborn ovary homeobox (NOBOX), GDF9 and STAG3. Conclusion: POI is distinguished by a complex genetic background with an increasing number of genes and diverse phenotypic traits. This is the first genetic epidemiology study in T & uuml;rkiye focusing on the effects of 26 genes related to POI. Among the variations we detected in our patient group, the variation we detected in the STAG3 gene has not been reported before. Two separate variations were detected in the NOBOX gene in two patients. Finally, one variation was detected in the GDF9 gene. The variation in the STAG3 gene was classified as likely pathogenic. The variations in the NOBOX and GDF6 genes are classified as of unknown clinical significance. Due to the intricate network governing human folliculogenesis, individual patients exhibit significant phenotypic diversity, necessitating the development of NGS sequencing methods to aid in POI diagnosis.