Clinical Pediatric Endocrinology
Online ISSN : 1347-7358
Print ISSN : 0918-5739
ISSN-L : 0918-5739
Original Articles
Endocrinological Characteristics of 25 Japanese Patients with CHARGE Syndrome
Yasuko ShojiShinobu IdaYuri EtaniHiroyuki YamadaFutoshi KayataniYasuhiro SuzukiKenjiro KosakiNobuhiko Okamoto
著者情報
ジャーナル オープンアクセス

2014 年 23 巻 2 号 p. 45-51

詳細
抄録
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.
著者関連情報
© 2014 by The Japanese Society for Pediatric Endocrinology

This article is licensed under a Creative Commons [Attribution-NonCommercial-NoDerivatives 4.0 International] license.
https://creativecommons.org/licenses/by-nc-nd/4.0/
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