Isochromosome Mosaic Turner Syndrome with Delayed Growth and Puberty: A Case Report

Authors

  • R. Tamrakar Endocrine Fellow, Department of Internal Medicine, BPKIHS, Nepal
  • A. Rai Endocrine Fellow, Department of Internal Medicine, BPKIHS, Nepal
  • R. Maskey Additional Professor and HOD, Department of Internal Medicine, BPKIHS, Nepal

DOI:

https://doi.org/10.3126/jdean.v7i1.57457

Keywords:

Isochromosome, Grave's disease, short stature, Turner syndrome

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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Published

2023-08-10

How to Cite

Tamrakar, R., Rai, A., & Maskey, R. (2023). Isochromosome Mosaic Turner Syndrome with Delayed Growth and Puberty: A Case Report . Journal of Diabetes and Endocrinology Association of Nepal, 7(1), 29–32. https://doi.org/10.3126/jdean.v7i1.57457

Issue

Section

Case Reports