AUTHOR=Cho Hyun-Ju , Gurbuz Fatih , Stamou Maria , Kotan Leman Damla , Farmer Stephen Matthew , Can Sule , Tompkins Miranda Faith , Mammadova Jamala , Altincik S. Ayca , Gokce Cumali , Catli Gonul , Bugrul Fuat , Bartlett Keenan , Turan Ihsan , Balasubramanian Ravikumar , Yuksel Bilgin , Seminara Stephanie B. , Wray Susan , Topaloglu A. Kemal 

TITLE=POU6F2 mutation in humans with pubertal failure alters GnRH transcript expression

JOURNAL=Frontiers in Endocrinology

VOLUME=Volume 14 - 2023

YEAR=2023

URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2023.1203542

DOI=10.3389/fendo.2023.1203542

ISSN=1664-2392

ABSTRACT=Impaired function of gonadotropin-releasing hormone (GnRH) neurons can cause a phenotypic spectrum ranging from delayed puberty to isolated hypogonadotropic hypogonadism (IHH). It is critical to understand the development and regulation of these neurons for therapeutical treatment.Here, we identified a mutation in the POU6f2 transcription factor associated with IHH and show that POU6F2 isoform1 can regulate GnRH transcription. This is the first study to show a function of POU6f2 isoform1 and identifies a mutation in a IHH patient that alters its function.