Sinnvolle Diagnostik bei Besonderheiten der Geschlechtsentwicklung

Disorders of sex development or "DSD" describe a heterogeneous group of abnormalities of sexual determination and differentiation. This may be caused by chromosomal as well as monogenic aberrations, which may lead either primarily or through endocrine mechanisms to abnormal sexual development. Laboratory investigations play an important role in the diagnostic process. However, special analytical methods have to be taken into account and the usual reference intervals do not apply. Therefore, laboratory results should be interpreted in a specialized center in context with clinical and imaging findings. Furthermore, molecular genetic analysis can be performed for several entities. In a majority of cases, however, a definitive diagnosis is not possible even today. Therefore, management by a highly specialized multidisciplinary team is necessary for stringent diagnosis, prognosis and overall therapeutic decision making. The team must include physicians from different subspecialties as well as psychosocial experts to counsel patients and their families appropriately.