Delayed puberty and anosmia in CHARGE Syndrome: A case report / Journal of the ASEAN Federation of Endocrine Societies
Journal of the ASEAN Federation of Endocrine Societies
;
: 122-124, 2020.
Article
in English
| WPRIM
| ID: wpr-961916
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 >Tp.(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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Index:
WPRIM (Western Pacific)
Main subject:
Puberty, Delayed
/
Anosmia
Language:
English
Journal:
Journal of the ASEAN Federation of Endocrine Societies
Year:
2020
Type:
Article
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