Disorders of Sex Development: Swyer Syndrome

Epidemiology

• Rare disorder with an incidence of approximately 1 in 80,000 in the general population.

Etiology

• Caused by a mutation in the SRY gene on the Y chromosome.
• The mutation inhibits the differentiation of embryonic gonads into testes.

Karyotype

• Patients typically have a 46,XY karyotype but present as females phenotypically.

Clinical Features

Internal Genitalia

• Small uterus.
• Fallopian tubes present but underdeveloped.

External Genitalia

• Female external genitalia with a vagina.
• Enlarged clitoris.

Gonads

• Absent ovaries or streak ovaries (non-functional).
• Considered an example of pure gonadal dysgenesis or complete congenital dysgenesis.

Presentation

• Patients usually present with primary amenorrhea.
• Absence of secondary sexual characteristics.
• Diagnostic tests often show normal levels of hormones, but estrogen levels are decreased.

Treatment

• Hormone Replacement Therapy is essential for managing symptoms.
• Gonadectomy is necessary in the long term due to the high risk of gonadoblastoma associated with streak ovaries.
• Surgical removal of non-functional gonads is the best course of action.

Conclusion

• Emphasizes the importance of patience, persistence, and perseverance in achieving personal and professional goals.
• Thank you and best wishes to all.