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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Autores principales: Shoji, Yasuko, Ida, Shinobu, Etani, Yuri, Yamada, Hiroyuki, Kayatani, Futoshi, Suzuki, Yasuhiro, Kosaki, Kenjiro, Okamoto, Nobuhiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2014
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4004997/
https://www.ncbi.nlm.nih.gov/pubmed/24790386
http://dx.doi.org/10.1297/cpe.23.45
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author Shoji, Yasuko
Ida, Shinobu
Etani, Yuri
Yamada, Hiroyuki
Kayatani, Futoshi
Suzuki, Yasuhiro
Kosaki, Kenjiro
Okamoto, Nobuhiko
author_facet Shoji, Yasuko
Ida, Shinobu
Etani, Yuri
Yamada, Hiroyuki
Kayatani, Futoshi
Suzuki, Yasuhiro
Kosaki, Kenjiro
Okamoto, Nobuhiko
author_sort Shoji, Yasuko
collection PubMed
description 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.
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spelling pubmed-40049972014-04-30 Endocrinological Characteristics of 25 Japanese Patients with CHARGE Syndrome Shoji, Yasuko Ida, Shinobu Etani, Yuri Yamada, Hiroyuki Kayatani, Futoshi Suzuki, Yasuhiro Kosaki, Kenjiro Okamoto, Nobuhiko Clin Pediatr Endocrinol Original Article 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. The Japanese Society for Pediatric Endocrinology 2014-04-22 2014-04 /pmc/articles/PMC4004997/ /pubmed/24790386 http://dx.doi.org/10.1297/cpe.23.45 Text en 2014©The Japanese Society for Pediatric Endocrinology http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives (by-nc-nd) License.
spellingShingle Original Article
Shoji, Yasuko
Ida, Shinobu
Etani, Yuri
Yamada, Hiroyuki
Kayatani, Futoshi
Suzuki, Yasuhiro
Kosaki, Kenjiro
Okamoto, Nobuhiko
Endocrinological Characteristics of 25 Japanese Patients with CHARGE Syndrome
title Endocrinological Characteristics of 25 Japanese Patients with CHARGE Syndrome
title_full Endocrinological Characteristics of 25 Japanese Patients with CHARGE Syndrome
title_fullStr Endocrinological Characteristics of 25 Japanese Patients with CHARGE Syndrome
title_full_unstemmed Endocrinological Characteristics of 25 Japanese Patients with CHARGE Syndrome
title_short Endocrinological Characteristics of 25 Japanese Patients with CHARGE Syndrome
title_sort endocrinological characteristics of 25 japanese patients with charge syndrome
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4004997/
https://www.ncbi.nlm.nih.gov/pubmed/24790386
http://dx.doi.org/10.1297/cpe.23.45
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