Delayed Puberty and Anosmia in CHARGE Syndrome: A Case Report*

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)...

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Detalles Bibliográficos
Autores principales: Lee, Yee Lin, Toh, Luke, Yap, Fabian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Journal of the ASEAN Federation of Endocrine Societies 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7784111/
https://www.ncbi.nlm.nih.gov/pubmed/33442180
http://dx.doi.org/10.15605/jafes.035.01.21
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author Lee, Yee Lin
Toh, Luke
Yap, Fabian
author_facet Lee, Yee Lin
Toh, Luke
Yap, Fabian
author_sort Lee, Yee Lin
collection PubMed
description 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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spelling pubmed-77841112021-01-12 Delayed Puberty and Anosmia in CHARGE Syndrome: A Case Report* Lee, Yee Lin Toh, Luke Yap, Fabian J ASEAN Fed Endocr Soc Case Report 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. Journal of the ASEAN Federation of Endocrine Societies 2020-04-20 2020 /pmc/articles/PMC7784111/ /pubmed/33442180 http://dx.doi.org/10.15605/jafes.035.01.21 Text en © 2020 Journal of the ASEAN Federation of Endocrine Societies https://creativecommons.org/licenses/by-nc/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International.
spellingShingle Case Report
Lee, Yee Lin
Toh, Luke
Yap, Fabian
Delayed Puberty and Anosmia in CHARGE Syndrome: A Case Report*
title Delayed Puberty and Anosmia in CHARGE Syndrome: A Case Report*
title_full Delayed Puberty and Anosmia in CHARGE Syndrome: A Case Report*
title_fullStr Delayed Puberty and Anosmia in CHARGE Syndrome: A Case Report*
title_full_unstemmed Delayed Puberty and Anosmia in CHARGE Syndrome: A Case Report*
title_short Delayed Puberty and Anosmia in CHARGE Syndrome: A Case Report*
title_sort delayed puberty and anosmia in charge syndrome: a case report*
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7784111/
https://www.ncbi.nlm.nih.gov/pubmed/33442180
http://dx.doi.org/10.15605/jafes.035.01.21
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