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, e...

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Bibliographic Details
Published in:Clinical Pediatric Endocrinology 2014, Vol.23(2), pp.45-51
Main Authors: Shoji, Yasuko, Ida, Shinobu, Etani, Yuri, Yamada, Hiroyuki, Kayatani, Futoshi, Suzuki, Yasuhiro, Kosaki, Kenjiro, Okamoto, Nobuhiko
Format: Article
Language:English
Subjects:
CHARGE syndrome
CHD7
endocrinological features
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Summary: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.
ISSN:0918-5739
1347-7358
DOI:10.1297/cpe.23.45