[Clinical cytogenetic and psychoneurological aspects of Klinefelter's syndrome in boys (author's transl)].
Investigations were carried out on boys aged between 8 and 20 years by positive chromatin test. Klinefelter's syndrome was confirmed by karyotype determination in 13 cases. In comparison with the average Polish population the patients' parents were older. The patients were usually the last children to be born in their families. Typical hypogonadism, cryptorchism, especially unilateral, and delay in the development of secondary sex characteristics were observed. Besides typical eunuchoid habitus, endomorphic type of body build, tendency towards obesity or sometimes even delay in growth and a deficiency in body weight were noticed. True gynaecomastia was only present in 1/4 of these patients. Very frequent features of Klinefelter's syndrome are--in the authors' opinion--mental subnormality, inadequate social adaptation and neurotic symptoms. Before adolescence the characteristic phenotype of Klinefelter's syndrome is absent. These results indicate that sex chromatin examination is a general screening test to determine Klinefelter's syndrome in boys.
D000223:Adaptation, Psychological; D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis; D007360:Intelligence; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000175:diagnosis / Q000453:epidemiology / Q000523:psychology*; D008297:Male; D008423:Maternal Age; D010331:Paternal Age; D010641:Phenotype; D011044:Poland; D012728:Sex Chromatin / Q000032:analysis
Klinische, cytogenetische und psychoneurologische Beobachtungen bei Knaben mit Klinefeltersyndrom.