HNF1A gene mutations and premature ovarian failure (POF): evidence from a clinical paradigm combining MODY 3 and POF

We examined HNF1A expression in human fetal and adult ovaries by immunohistochemistry using a polyclonal HNF1A antibody. HNF1A protein was expressed in both the fetal and adult human ovaries. Based on these findings, we hypothesize that HNF1A participates in ovarian organogenesis and/or function and that mutations in the HNF1A gene might represent another molecular defect causing POF, possibly in combination with other genetic factors. The study underlines the importance of rare clinical paradigms in leading the way to elucidation of the pathogenetic mechanisms of rare diseases.PMID:38311659 | DOI:10.1007/s42000-024-00529-y

Source: Hormones - February 4, 2024 Category: Endocrinology Authors: P Xekouki A Konstantinidou C Tatsi A Sertedaki N Settas D Loutradis G P Chrousos C Kanaka-Gantenbein C Dacou-Voutetakis A Voutetakis Source Type: research