| Abstract [eng] |
Disorders of sexual development are conditions in which sexual development is impaired. The field of disorders of sexual development is constantly evolving, however, common approach is lacking. Gonadal dysgenesis is the least clearly classified subgroup of disorders of sexual development. Advances in genetics contribute to a clearer understanding on gender development and diagnostics. One of the main problems is gender assignment, associated with many other interrelated problematic issues. Development of a biopsychosocial model for diagnosis, treatment and care is important. Interdisciplinary approach, involving patients and/or their parents or guardians, and ensuring the best possible patient quality of life is necessary. Often disorders of sexual development are identified on the first newborn examination. Prior to the clinical evaluation, collection of comprehensive medical history, prioritizing inheritance, is essential. Hormone effects are associated with individual’s behavior, sexual orientation and gender identity formation. It is hoped that in the future disorders of sexual development will be explained by complex genetic mechanisms leading to sexual differentiation. Disorders of sexual development are associated with increased risk of gonadal neoplasia, although, surgery, especially irreversible, should be based on interdisciplinary consent with parents or guardians and, if possible, patient and performed only with medical necessity. In this thesis a case of 45,X/46,XY mixed gonadal dysgenesis is presented. After applying the necessary diagnostic methods and performing bilateral gonadectomy gonadoblastoma of both gonads was diagnosed at the age of 1 year. |
