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, sa.1, ss.69-72, 2010 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 56 Sayı: 1
  • Basım Tarihi: 2010
  • Doi Numarası: 10.1093/tropej/fmp053
  • Dergi Adı: JOURNAL OF TROPICAL PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.69-72
  • Erciyes Üniversitesi Adresli: Evet

Özet

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.