Abstract

Isochromosome Mosaic Turner Syndrome, a variant of Turner syndrome which has a milder presentation, can present without the typical features of Turner syndrome. Evaluation of Turner syndrome with karyotyping has to be performed in females presenting with short stature. We present a case of 15 years girl who presented with delayed growth and puberty with primary amenorrhea and hyperthyroidism. Cytogenetic study of peripheral blood revealed 45,X [31]; 46, X,i(X)(q10) [19] suggestive of Isochromosome Mosaic Turner Syndrome.

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