Abstract

A RARE VARIANT OF TURNER SYNDROME- CASE REPORT

Author(s): Ipsita Mishra1, Arun Kumar Choudhury2, Debasish Patro3, Anoj Kumar Baliarsinha4

PRESENTATION OF CASE
Turner syndrome occurs in one out of every 2500-3000 live female births and the diagnosis is usually based on the clinical presentation. It is a genetic condition in which a female does not have the usual pair of two X chromosomes. Deletions of proportions of the X chromosome result in various Turner variants who have varied spectrum of clinical presentation. We report on a rare variant of deletion on long arm of X chromosome in a 35-year-old female with short stature, lack of secondary sexual characters, primary amenorrhea, average intelligence and diabetes mellitus. Chromosomal analysis using GTG-banding showed 46, X, del (X), (q13) in all cell lines. Hence, suspicion of rare variants of Turner syndrome in females must be done who present at a later age with atypical features.

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