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

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9 Citations (Scopus)


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
Issue number2
Publication statusPublished - 2014


  • CHARGE syndrome
  • CHD7
  • Endocrinological features

ASJC Scopus subject areas

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

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    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, 23(2), 45-51. https://doi.org/10.1297/cpe.23.45