From the Research
Patients with Swyer syndrome have an increased risk of developing endometrial cancer due to the need for estrogen replacement therapy without progesterone to balance its effects on the endometrium. Swyer syndrome is a disorder of sex development where individuals have XY chromosomes but develop female external genitalia due to mutations affecting testicular development. These patients have streak gonads (undeveloped gonadal tissue) that should be surgically removed as soon as the diagnosis is made because they have a 15-35% risk of developing gonadoblastoma or dysgerminoma, as reported in a case study 1.
Regarding endometrial cancer specifically, the risk increases because patients with Swyer syndrome typically require estrogen replacement therapy for proper feminization and to prevent osteoporosis. However, without progesterone to balance the effects of estrogen on the endometrium, they face an increased risk of endometrial hyperplasia and cancer. Therefore, standard treatment includes both estrogen and progesterone replacement therapy to mimic normal hormonal cycles and protect the endometrium, as suggested by the management of a patient with Swyer syndrome 2.
Regular gynecological follow-up with endometrial monitoring is essential for these patients, and any abnormal bleeding should prompt immediate evaluation to rule out endometrial pathology. The importance of early diagnosis and management is highlighted by cases of malignant germ cell tumors associated with Swyer syndrome, such as dysgerminoma and choriocarcinoma, which have been reported in the literature 3. Additionally, familial cases of Swyer syndrome have been documented, emphasizing the need for genetic counseling and screening for gonadal malignancies in affected families 4.
Key considerations in the management of Swyer syndrome include:
- Surgical removal of streak gonads to prevent malignancy
- Estrogen and progesterone replacement therapy to mimic normal hormonal cycles
- Regular gynecological follow-up with endometrial monitoring
- Genetic counseling and screening for gonadal malignancies in affected families.