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The Philippine Children&rsquo ; s Medical Center Journal;(2): 51-59, 2021.
Artigo em Inglês | WPRIM | ID: wpr-961849

RESUMO

@#The Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disease that involves singlebase gene mutation in the LMNA gene which results in the production of a dysfunctional and mutant lamin A protein called progerin. Progerin is found in increased concentration in normal older individuals hence patients present with phenotypic signs of aging. [1] Based on current studies, there is no established predisposition and association between abdominal masses, specifically ovarian masses in female, adolescent, progeria patients. This is an adolescent female patient with progeria presenting with an ovarian mass. Further studies to establish the correlation between Hutchinson-Gilford progeria syndrome (HGPS) and abdominal masses specifically masses in the reproductive system have yet to be done. The exact mechanism by which progeria patients become predisposed to developing abdominal masses, specifically ovarian masses is still a grey area in research. Through this case report, routine abdominal ultrasound screening or routine abdominal CT scan can be done to screen for presence of masses in HGPS patients.

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