Neurofibromatosis Type 1 with Overlap Turner Syndrome and Klinefelter Syndrome

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

JOURNAL OF TROPICAL PEDIATRICS, cilt.56, ss.69-72, 2010 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 56 Konu: 1
  • Basım Tarihi: 2010
  • Doi Numarası: 10.1093/tropej/fmp053
  • Sayfa Sayıları: ss.69-72


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.