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Journal of Tropical Pediatrics Advance Access published online on July 3, 2009
Journal of Tropical Pediatrics, doi:10.1093/tropej/fmp053
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© The Author [2009]. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Case Report

Neurofibromatosis Type 1 with Overlap Turner Syndrome and Klinefelter Syndrome

Nihal Hatipoglua, Selim Kurtoglub, Mustafa Kendircib, Mehmet Keskinc and Hüseyin perd

a Department of Pediatric Endocrinology, Sisli Etfal Research and Education Hospital
b Medical Faculty, Department of Pediatric Endocrinology, Erciyes University
c Medical Faculty, Department of Pediatric Endocrinology, Gaziantep University
d Medical Faculty, Department of Pediatric Neurology, Erciyes University

Correspondence: Nihal Hatipoglu, Department of Pediatric Endocrinology, Sisli Etfal Research and Education Hospital. E-mail: <nihalhatipoglu{at}yahoo.com>.


  Abstract

Turner's syndrome is a sex chromosome disorder. Klinefelter's syndrome is one of the most severe genetic diseases. Neurofibromatosis is an autosomal dominant disorder characterized by cafe-au-lait spots and fibromatous tumors of the skin. In this article, we report the overlap of neurofibromatosis-1 with Turner and Klinefelter syndromes. Thus, these disorders might overlap within the same patient. Due to these cases, we suggest that each patient with Turner-like symptoms or Klinefelter's-like syndrome, be carefully examined for café au lait macules before the initiation of hormone replacement treatment.

Key Words: turner syndrome • klinefelter syndrome • Neurofibromatosis type 1


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