Individuals with Swyer syndrome possess XY chromosomes, typically associated with males. However, due to a mutation, often in the SRY gene, the gonads do not develop into functional ovaries or testes during fetal development. Instead, they remain as streak gonads, which are rudimentary, non-functional structures composed of fibrous tissue. The absence of functional testes means these individuals do not produce testosterone or sperm.
Understanding the gonadal development in Swyer syndrome is critical for proper diagnosis and management. The streak gonads carry a significant risk of developing cancerous tumors, particularly gonadoblastoma. Therefore, prophylactic removal of these gonads is often recommended. This surgical intervention mitigates the risk of malignancy and allows for hormone replacement therapy to induce puberty and maintain secondary sexual characteristics. Historically, the link between streak gonads and cancer risk was not well understood, leading to potential delays in treatment and increased morbidity.
