Delayed Puberty and Anosmia in CHARGE Syndrome: A Case Report

Yee Lin Lee; Luke Toh; Fabian Yap

doi:10.15605/jafes.035.01.21

Authors

Yee Lin Lee Universiti Putra Malaysia http://orcid.org/0000-0002-6111-2669
Luke Toh KK Women's and Children's Hospital http://orcid.org/0000-0001-9498-5952
Fabian Yap KK Women's and Children Hospital http://orcid.org/0000-0003-1083-7958

DOI:

https://doi.org/10.15605/jafes.035.01.21

Keywords:

anosmia, delayed puberty, CHARGE syndrome

Abstract

A 26-year-old lady presented to the paediatric clinic at 11 years of age with poor growth. The detection of delayed
puberty, anosmia, coloboma and hearing impairment led to a diagnosis of CHARGE syndrome. This was confirmed
by a heterogenous de novo pathogenic variant c.6955C >T:p.(Arg2319Cys) detected in the CHD7 gene. Detailed
assessment, including olfaction, ophthalmic and auditory examination should be part of the evaluation framework in children with delayed growth and puberty.

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Author Biographies

Yee Lin Lee, Universiti Putra Malaysia

Department of Paediatrics

Luke Toh, KK Women's and Children's Hospital

Department of Diagnostic and Interventional Imaging

Fabian Yap, KK Women's and Children Hospital

Department of Paediatric Endocrinology

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