The Turkish Journal of Pediatrics
2009 , Vol 51 , Num 3
Rare sex chromosome aneuploidies: 49,XXXXY and 48,XXXY syndromes
Units of Pediatric Endocrinology1,Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey2,
49,XXXXY and 48,XXXY syndromes are rare gonosomal aneuploidies in
which the affected individuals present with characteristic facial and skeletal
malformations, intrauterine growth retardation, and psychomotor retardation.
Psychological, endocrinologic and orthopedic disorders constitute the major
problems in the clinical follow-up. Sex chromosome abnormalities should
especially be kept in mind in the evaluation of patients with micropenis,
mental retardation and accompanying behavioral disturbances. Management
mandates a multidisciplinary approach with pediatric endocrinology, pediatric
surgery, orthopedics, psychiatry, and clinical genetic evaluations.
Keywords :
49,XXXXY, 48,XXXY, gonosomal aneuploidy, hypogenitalism, micropenis, hip dysplasia.