%0 Journal Article
%T An Uncommon Variant of Turner Syndrome in an African American Woman
%A N. Stacy Amadife
%A Seshu Sarma
%A Felix Wireko
%A Ademola Ojo
%A Gail Nunlee-Bland
%J Open Journal of Endocrine and Metabolic Diseases
%P 17-21
%@ 2165-7432
%D 2023
%I Scientific Research Publishing
%R 10.4236/ojemd.2023.131002
%X The extra
gonadal consequences of Turner¡¯s Syndrome (TS) also pose risks to patients,
namely cardiovascular. Clinicians should maintain a level of clinical suspicion for TS in patients with primary
amenorrhea even without typical physical
characteristics. Interestingly, TS has uncommon variant forms with varying degrees of
clinical manifestations. Even so, all TS and TS variants maintain a high risk for cardiovascular events. Therefore,
early TS diagnosis is of utmost importance. Here, we present a case of a young, African-American woman with primary amenorrhea with few
overt clinical signs of TS. With high clinical suspicion, genetic
testing is pursued and demonstrates the TS variant. This
is important because variant forms have a similar
increased risk of premature hypertension, diabetes, and aortic
dissection.
%K Turner Syndrome
%K Turner Syndrome Variant
%K Primary Amenorrhea
%K Isodicentric X Chromosome
%U http://www.scirp.org/journal/PaperInformation.aspx?PaperID=122837