Gemeinschaftsmedizin und Gesundheitserziehung

Abstrakt

Rare Forms of Disorders of Sex Development (DSD) in Patients with Female Phenotype

Kristesashvili J, Chipashvili M, Jorbenadze T and Greydanus DE

Disorders of Sex development (DSD) belong to uncommon pathologies; in addition, there are especially rare forms, such are ovotesticular disorders (OT), Turner Syndrome and early malignisation of intraabdominal located gonads in the cases of androgen insensitivity syndrome. In this article we present 5 rare cases of DSD in female phenotype patients: 3 cases of ovotesticular DSD with 46,XX and 46,XY karyotypes; 1 familial case of AIS with early malignancy (19-year-old) of intraabdominally-located testicle in older sibs; and a case of spontaneous menstruation in a patient with Turner syndrome and mosaic karyotype 45,X/47,XXX. Rare cases of DSD are connected with diagnostic and management difficulties and so description of each such case and collection of data in this field is very important from a scientific as well as a practical point of view. Determination of prognosis and adequate management of each individual patient are also essential. Study of this issue is especially sensitive in the case of adolescent patients, in order to avoid physiological stress, to reduce health risks, and to improve the quality of their life.