Development of eight pubertal males with 47,XXY karyotype

Abstract
The increasing frequency with which the diagnosis of the 47,XXY karyotype is made requires more knowledge of the prognosis of this condition. Four 47,XXY boys identified at birth and followed since then (Group I), and 4 47,XXY boys diagnosed because of physical and/or emotional problems (Group II) are presented. Physical, psychological, language and hormone data are presented. The physical and intellectual profiles for the 2 groups are similar. This is in contrast to the very poor school and emotional adjustment of the Group II individuals. These boys were definitely more difficult and problematic for their parents when compared to their siblings and to Group I who were unselected. The expression of this karyotype is variable and individuals with behavioral disorders may represent a maladaptive subgroup rather than the entire population of 47,XXY males. Recommendations are given for intervention with attention to learning and language problems, hormone status and emotional state.