TY - JOUR AU - Lee, Yee Lin AU - Toh, Luke AU - Yap, Fabian PY - 2020/04/21 Y2 - 2024/03/28 TI - Delayed Puberty and Anosmia in CHARGE Syndrome: A Case Report JF - Journal of the ASEAN Federation of Endocrine Societies JA - J ASEAN Fed Endocr Soc VL - 35 IS - 1 SE - Case Reports DO - 10.15605/jafes.035.01.21 UR - https://asean-endocrinejournal.org/index.php/JAFES/article/view/735 SP - 122-124 AB - <p>A 26-year-old lady presented to the paediatric clinic at 11 years of age with poor growth. The detection of delayed<br>puberty, anosmia, coloboma and hearing impairment led to a diagnosis of CHARGE syndrome. This was confirmed<br>by a heterogenous de novo pathogenic variant c.6955C &gt;T:p.(Arg2319Cys) detected in the CHD7 gene. Detailed<br>assessment, including olfaction, ophthalmic and auditory examination should be part of the evaluation framework in children with delayed growth and puberty.</p> ER -