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

Research output: Contribution to journalArticle

9 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)45-51
Number of pages7
JournalClinical Pediatric Endocrinology
Volume23
Issue number2
DOIs
Publication statusPublished - 2014

Fingerprint

CHARGE Syndrome
DNA-Binding Proteins
Choanal Atresia
Coloboma
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Hypopituitarism
Mutation
Hypogonadism
Hypothyroidism
Growth and Development
Hearing Loss
Ear
Genes

Keywords

  • CHARGE syndrome
  • CHD7
  • Endocrinological features

ASJC Scopus subject areas

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism
  • Pediatrics, Perinatology, and Child Health

Cite this

Shoji, Y., Ida, S., Etani, Y., Yamada, H., Kayatani, F., Suzuki, Y., ... Okamoto, N. (2014). Endocrinological characteristics of 25 Japanese patients with CHARGE syndrome. Clinical Pediatric Endocrinology, 23(2), 45-51. https://doi.org/10.1297/cpe.23.45

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.

In: Clinical Pediatric Endocrinology, Vol. 23, No. 2, 2014, p. 45-51.

Research output: Contribution to journalArticle

Shoji, Y, Ida, S, Etani, Y, Yamada, H, Kayatani, F, Suzuki, Y, Kosaki, K & Okamoto, N 2014, 'Endocrinological characteristics of 25 Japanese patients with CHARGE syndrome', Clinical Pediatric Endocrinology, vol. 23, no. 2, pp. 45-51. https://doi.org/10.1297/cpe.23.45
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. In: Clinical Pediatric Endocrinology. 2014 ; Vol. 23, No. 2. pp. 45-51.
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