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)...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Pasig City
2020
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| Online Access: | http://psasir.upm.edu.my/id/eprint/88353/ http://psasir.upm.edu.my/id/eprint/88353/1/ABSTRACT.pdf |
| _version_ | 1848860602040057856 |
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| author | Lee, Yee Lin Toh, Luke Yap, Fabian Kok Peng |
| author_facet | Lee, Yee Lin Toh, Luke Yap, Fabian Kok Peng |
| author_sort | Lee, Yee Lin |
| building | UPM Institutional Repository |
| collection | Online Access |
| 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. |
| first_indexed | 2025-11-15T12:47:50Z |
| format | Article |
| id | upm-88353 |
| institution | Universiti Putra Malaysia |
| institution_category | Local University |
| language | English |
| last_indexed | 2025-11-15T12:47:50Z |
| publishDate | 2020 |
| publisher | Pasig City |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | upm-883532022-11-24T01:39:34Z http://psasir.upm.edu.my/id/eprint/88353/ Delayed puberty and anosmia in CHARGE syndrome: a case report Lee, Yee Lin Toh, Luke Yap, Fabian Kok Peng 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. Pasig City 2020 Article PeerReviewed text en http://psasir.upm.edu.my/id/eprint/88353/1/ABSTRACT.pdf 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 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7784111/ 10.15605/jafes.035.01.21 |
| spellingShingle | Lee, Yee Lin Toh, Luke Yap, Fabian Kok Peng 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 |
| url | http://psasir.upm.edu.my/id/eprint/88353/ http://psasir.upm.edu.my/id/eprint/88353/ http://psasir.upm.edu.my/id/eprint/88353/ http://psasir.upm.edu.my/id/eprint/88353/1/ABSTRACT.pdf |