Gonadal Dysgensis

A diagnosis of Swyer syndrome is made based upon a thorough clinical evaluation, a detailed patient history, identification of characteristic findings (e.g., no periods, streak gonads) and a variety of tests including chromosomal analysis. For example, a specific technique called fluorescent in situ hybridization (FISH) can be used to determine a person’s karyotype. A karyotype is a visual representation of a person’s chromosomal makeup, (i.e., the 46 chromosomes in a cell). These 46 chromosomes are broken down into 22 matched pairs (each pair has one chromosome received from the father and one receive from the mother). The sex chromosomes are seen as a separate pair, either XX or XY. A diagnosis of Swyer syndrome is usually made when young adults are tested for delayed puberty.

Molecular genetic testing can determine whether one of the specific gene mutations that are associated with Swyer syndrome is present in an affected individual.

Evaluation of immediate family members of an affected person can be helpful in determining if the condition is sporadic or inherited in that family.

Patients with mixed gonadal dysgenesis receive hormone replacement therapy depending on their gender. Males need treatment depending on level of testicular insufficiency. To prevent the development of malignancy in patients with XY gonadal dysgenesis, gonadectomy typically is recommended.