Citation
Lee, Yee Lin and Toh, Luke and Yap, Fabian Kok Peng
(2020)
Delayed puberty and anosmia in CHARGE syndrome: a case report.
Journal of the ASEAN Federation of Endocrine Societies, 35 (1).
pp. 122-124.
ISSN 0857-1074; ESSN: 2308-118X
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.
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Official URL or Download Paper: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC77841...
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Additional Metadata
| Item Type: | Article |
|---|---|
| Divisions: | Faculty of Medicine and Health Science |
| DOI Number: | https://doi.org/10.15605/jafes.035.01.21 |
| Publisher: | Pasig City |
| Keywords: | Anosmia; Delayed puberty; CHARGE syndrome |
| Depositing User: | Ms. Nuraida Ibrahim |
| Date Deposited: | 08 Mar 2022 08:14 |
| Last Modified: | 24 Nov 2022 01:39 |
| Altmetrics: | http://www.altmetric.com/details.php?domain=psasir.upm.edu.my&doi=10.15605/jafes.035.01.21 |
| URI: | http://psasir.upm.edu.my/id/eprint/88353 |
| Statistic Details: | View Download Statistic |
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