Open AccessA rare case of turner syndrome mosaicism in an African black woman
Author(s) -
Yordanka Piña Rivera,
Godfrey Mutashambara Rwegerera
Publication year - 2016
Publication title -
case reports in internal medicine
Language(s) - English
Resource type - Journals
eISSN - 2332-7251
pISSN - 2332-7243
DOI - 10.5430/crim.v3n4p44
Subject(s) - virilization , hypergonadotropic hypogonadism , turner syndrome , primary amenorrhea , x chromosome , karyotype , turner's syndrome , gynecology , chromosome , medicine , genetics , biology , pediatrics , endocrinology , hormone , androgen , gene
Turner syndrome (TS) is a chromosomal disorder caused by partial or complete absence of an X chromosome in at least one tissue of the body with about 50% of patients having a different chromosome formula. The 45, X/46, XY mosaicism variety is rare. We present a case of a 32-year-old black African female patient with a history of primary amenorrhea and clinical stigmata of TS without signs of virilization. The laboratory parameters were consistent with the characteristic hypergonadotropic hypogonadism found in Turner Syndrome. Laparoscopy showed streak gonads and hypoplastic uterus and the findings of the cytogenetic studies were consistent with a diagnosis of 45, X/46, XY Mosaicism. The chromosome study was decisive to confirm the diagnosis.