Delayed puberty and anosmia in CHARGE Syndrome: A case report
https://doi.org/10.15605/jafes.035.01.21
- Author:
Yee Lin Lee
1
;
Luke Toh
2
;
Fabian Yap
3
Author Information
1. Department of Paediatrics, Universiti Putra Malaysia
2. Department of Diagnostic and Interventional Imaging, KK Womens and Childrens Hospital, Singapore
3. Department of Paediatric Endocrinology, KK Womens and Childrens Hospital, Singapore
- Publication Type:Case Reports
- MeSH:
Anosmia;
Puberty, Delayed
- From:
Journal of the ASEAN Federation of Endocrine Societies
2020;35(1):122-124
- CountryPhilippines
- Language:English
-
Abstract:
A 26-year-old female 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.
- Full text:735-Article Text-10043-1-10-20200530.pdf
