Congenital hypogonadotropic hypogonadism in a patient with a de novo POGZ mutation.
Nazli EskiciShrinidhi MadhusudanKirsi VaaralahtiVenkatram YellapragadaCelia Gomez-SanchezJuho KärkinenHenrikki AlmusaNina BrandstackPäivi J MiettinenYafei WangTaneli RaivioPublished in: European journal of endocrinology (2023)
In conclusion, this is the first report on the overlap between White-Sutton syndrome and CHH. POGZ mutations do not hinder GnRH neuron formation, but may cause CHH/KS by affecting the size and motility of the anterior neural progenitor pool, and neurite outgrowth.