Combined pituitary hormone deficiency harboring CHD7 gene missense mutation without CHARGE syndrome: a case report

Combined pituitary hormone deficiency harboring CHD7 gene missense mutation without CHARGE syndrome: a case report

Abstract Background Heterozygous loss-of-function mutations in the chromodomain helicase DNA-binding protein 7 (CHD7) gene cause CHARGE syndrome characterized by various congenital anomalies. A majority of patients with CHARGE syndrome present with congenital hypogonadotropic hypogonadism (HH), and...

Full description

Bibliographic Details
Main Authors: Yoshinari Obata, Kana Takayama, Hideyuki Nishikubo, Aoki Tobimatsu, Izumi Matsuda, Yuhei Uehara, Yumiko Maruo, Hiroyuki Sho, Motohiro Kosugi, Tetsuyuki Yasuda
Format: Article
Language:English
Published: BMC 2023-05-01
Series:BMC Endocrine Disorders
Subjects:
Combined pituitary hormone deficiency
CHD7
CHARGE syndrome
Case report
Online Access:https://doi.org/10.1186/s12902-023-01373-8

Internet

https://doi.org/10.1186/s12902-023-01373-8

Similar Items