[Klinefelter syndrome: is early diagnosis by screening study necessary?]

Abstract

Diagnostic procedures and care for patients diagnosed as Klinefelter's syndrome, as well as the patients' coping with this situation, are examined on the basis of two case reports. Specifically, the screening for X-chromatin positive males (buccal smear) is considered. Besides necessary diagnostic procedures as careful somatopsychological examination remains of utmost importance. In cases with etiologically unclear and genetically not explainable learning disabilities, especially with reduced capacity for verbalization, the sex-chromatin examination is indicated. Because of its possible effect as a "self-fulfilling prophecy", a newborn screening is not recommended. Treatment and care should take into account all aspects of somatic and psychic datas. Educational and supportive psychotherapy and pharmacotherapy (Testosteron) should be combined. Co-operation should be interdisciplinary.