Endocrinological Characteristics of 25 Japanese Patients with CHARGE Syndrome.
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.
Department of Gastroenterology and Endocrinology, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
Yasuko
Y
Shoji
Department of Gastroenterology and Endocrinology, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
Shinobu
S
Ida
Department of Gastroenterology and Endocrinology, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
Yuri
Y
Etani
Department of Gastroenterology and Endocrinology, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
Hiroyuki
H
Yamada
Department of Pediatric Cardiology, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
Futoshi
F
Kayatani
Department of Pediatric Neurology, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
Yasuhiro
Y
Suzuki
Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Kenjiro
K
Kosaki
Department of Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
Nobuhiko
N
Okamoto
CHARGE syndrome; CHD7; endocrinological features