Neurofibromatosis Type 1 with Overlap Turner Syndrome and Klinefelter Syndrome


Hatipoğlu N. , Kurtoglu S. , Kendirci M. , Keskin M., Per H.

JOURNAL OF TROPICAL PEDIATRICS, vol.56, no.1, pp.69-72, 2010 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 56 Issue: 1
  • Publication Date: 2010
  • Doi Number: 10.1093/tropej/fmp053
  • Title of Journal : JOURNAL OF TROPICAL PEDIATRICS
  • Page Numbers: pp.69-72

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 cafe au lait macules before the initiation of hormone replacement treatment.