ea0011p132 | Clinical case reports | ECE2006
Wikiera B
, Slezak R
, Glab E
, Barg E
, Noczynska A
49,XXXXY syndrome is a rare defect of sex chromosomes frequently labelled as Klinefelter variant. It is associated with more severe dysmorphic features, hypogenitalism and mental retardation.The goal: To describe clinical, biochemical, hormonal, radiological and developmental status of the patient with 49,XXXXY karyotype.Report of the patient: 12-month-old boy referred because of underdeveloped genitalia. The patient was born by ca...