A rare case of turner syndrome mosaicism in an African black woman

Abstract

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.