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

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

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

Issue

Vol. 7 No. 1 (2023)

Section

Case Reports

License

Copyright (c) 2023 R. Tamrakar, A. Rai, R. Maskey

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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

This license enables reusers to distribute, remix, adapt, and build upon the material in any medium or format for non-commercial purposes only, and only so long as attribution is given to the creator.

How to Cite

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