Variant of Turner Syndrome 45, X/46, XY Mosaicism: A Case Report
Journal Title: IJAR-Indian Journal of Applied Research - Year 2015, Vol 5, Issue 5
Abstract
Turner syndrome (TS) is the consequence of complete or partial absence of one X chromosome in a p-he notypic female usually characterized by short stature, gonadal dysgenesis and a variety of other clinical features. About 50% of the patients have a 45,X karyotype, 19-20% show mosaic forms including 45,X/46,XY & 45,X/46,XX while the remaining (30%) have structurally abnormal sex chromosomes . Patients with 45,X/46,XY mo- sai cism exhibit a wide phenotypic spectrum, ranging from normal females, females with Turner syndrome or normal males with mild hypospadias, to male or female pseudohermaphroditism. Those with Y chromosomal material are at risk for developing gonadoblastoma or dysgerminoma later in life. We had a baby of two days old referred to us before -gen der assignment as it had presented with ambiguous genitalia & was suspected for CAH.
Authors and Affiliations
Dr. Shailaja C. Math
Keywords
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