Turner Syndrome with Mosaicism of X Chromosome: A Case Report
DOI:
https://doi.org/10.31729/jnma.8168Keywords:
case reports; infertility; sex chromosome aberrations; Turner syndrome.Abstract
Turners’ syndrome, although common, is a complex syndrome that requires a multidisciplinary team to manage it. If undiagnosed prenatally or in childhood, Turners’ syndrome females often present later to gynaecologists with premature ovarian insufficiency or infertility as their primary presenting complaint. Timely diagnosis and management are key to improving health outcomes in women with Turners’ syndrome, as it is associated with multiple comorbidities which left untreated will result in excess morbidity and mortality. We hereby present a case of a 20-year-old female diagnosed to have Turner's syndrome with mosaicism of the X chromosome to highlight the wide array of clinical presentations it can have.
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Copyright (c) 2023 Priyanka Vaidya, Achala Vaidya
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