hrp0092p1-103 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

A Case of Panhipopituitarism with SOX3 Gene Deletion

Cinaz Peyami , Kayhan Gülsüm , Döğer Esra , Uğurlu Aylin Kılınç , Akbaş Emine Demet , Küpçü Zekiye , Perçin Ferda , Bideci Aysun , Çamurdan Orhun

Introduction: It is known that microduplications including the SOX3 gene and intragenic duplications leading to loss of function in the gene cause panhypopituitarism, which can be accompanied by intellectual failure. Here, we report the first known case of panhypopituitarism, a deletion of the X chromosome, including the SOX3 gene in the q27.1q27.3 region.Case: A 15-years and two months old male patient was referred to o...