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Turner syndrome and its variants

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Abstract

Case records of female patients with karyotype proven turner syndrome were analyzed. 11 patients had classic Turner karyotype (Group 1) and 13 patients had karyotype suggestive of one of the variants of Turner syndrome (Group 2). There was a median difference of 3 years between the age of presentation and the age of diagnosis in Group 2. Out of the thirteen patients in Group 2, 4 had no clinical stigmata of Turner Syndrome; the rest (n=9) had one or more of the typical clinical stigmata of Turner Syndrome. One patient with a complex mosaic karyotype also had an intracranial medulloblastoma. One patient in each group had coarctation of the aorta. 5 patients in Group 1 and 3 patients in Group 2 had primary hypothyroidism and received levothyroxine. The median Thyroid Stimulating Hormone levels were significantly higher among patients in group 1 than in group 2.

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Authors and Affiliations

  1. Department of Diabetes and Endocrinology, Amrita Institute of Medical Sciences, Kochi, Kerala, India

    R. Bharath, A. G. Unnikrishnan, B. Nisha, V. P. Praveen, Vasantha Nair, R. V. Jayakumar & Harish Kumar

  2. Department of Human Cytogenetics, Amrita Institute of Medical Sciences, Kochi, Kerala, India

    M. V. Thampy & Alka Anilkumar

  3. Department of Endocrinology and Diabetes, Amrita Institute of Medical Sciences, Elamakkara PO, Cochin, 682026, India

    A. G. Unnikrishnan

Authors
  1. R. Bharath
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  2. A. G. Unnikrishnan
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  3. M. V. Thampy
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  4. Alka Anilkumar
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  5. B. Nisha
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  6. V. P. Praveen
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  7. Vasantha Nair
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  8. R. V. Jayakumar
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  9. Harish Kumar
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Correspondence to A. G. Unnikrishnan.

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Bharath, R., Unnikrishnan, A.G., Thampy, M.V. et al. Turner syndrome and its variants. Indian J Pediatr 77, 193–195 (2010). https://doi.org/10.1007/s12098-009-0226-7

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  • DOI: https://doi.org/10.1007/s12098-009-0226-7

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