Neurofibromatosis type 1 with overlap Turner syndrome and Klinefelter syndrome.
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.
Hatipoglu
Nihal
N
Department of Pediatric Endocrinology, Sisli Etfal Research and Education Hospital. nihalhatipoglu@yahoo.com
Kurtoglu
Selim
S
Kendirci
Mustafa
M
Keskin
Mehmet
M
Per
Hüseyin
H
D000293:Adolescent; D019080:Cafe-au-Lait Spots / Q000150:complications / Q000235:genetics* / Q000473:pathology; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007713:Klinefelter Syndrome / Q000150:complications / Q000235:genetics*; D008297:Male; D009456:Neurofibromatosis 1 / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D014424:Turner Syndrome / Q000150:complications / Q000235:genetics*