Endocrinological Characteristics of 25 Japanese Patients with CHARGE          Syndrome

Yasuko Shoji; Shinobu Ida; Yuri Etani; Hiroyuki Yamada; Futoshi Kayatani; Yasuhiro Suzuki; Kenjiro Kosaki; Nobuhiko Okamoto

doi:10.1297/cpe.23.45

Original Articles

Endocrinological Characteristics of 25 Japanese Patients with CHARGE Syndrome

Yasuko Shoji, Shinobu Ida, Yuri Etani, Hiroyuki Yamada, Futoshi Kayatani, Yasuhiro Suzuki, Kenjiro Kosaki, Nobuhiko Okamoto

Author information

Yasuko Shoji
Department of Gastroenterology and Endocrinology, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan
Shinobu Ida
Department of Gastroenterology and Endocrinology, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan
Yuri Etani
Department of Gastroenterology and Endocrinology, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan
Hiroyuki Yamada
Department of Gastroenterology and Endocrinology, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan
Futoshi Kayatani
Department of Pediatric Cardiology, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan
Yasuhiro Suzuki
Department of Pediatric Neurology, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan
Kenjiro Kosaki
Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan
Nobuhiko Okamoto
Department of Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan

Keywords: CHARGE syndrome, CHD7, endocrinological features

JOURNAL OPEN ACCESS

2014 Volume 23 Issue 2 Pages 45-51

DOI https://doi.org/10.1297/cpe.23.45

Details

Abstract

CHARGE syndrome is a congenital disorder caused by mutation of the chromodomain helicase DNA binding protein 7 (CHD7) gene and is characterized by multiple anomalies including ocular coloboma, heart defects, choanal atresia, retarded growth and development, genital and/or urological abnormalities, ear anomalies, and hearing loss. In the present study, 76% of subjects had some type of endocrine disorder: short stature (72%), hypogonadotropic hypogonadism (60%), hypothyroidism (16%), and combined hypopituitarism (8%). A mutation in CHD7 was found in 80% of subjects. Here, we report the phenotypic spectrum of 25 Japanese patients with CHARGE syndrome, including their endocrinological features.

Corresponding author

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