Introduction and importance: Amenorrhea can be a transient, intermittent, or permanent condition reflecting the overall health condition of a woman. Primary amenorrhea and ambiguous genitalia appearance warrant more comprehensive diagnosis and treatment, especially in those planning to have a married life.
Case presentation: A case a 24 years old woman was referred to our hospital with a chief complaint of primary amenorrhea. Previously, she was diagnosed with vaginal agenesis. However, a thorough examination revealed ambiguous genitalia and karyotype result of 46, XY. Following several rounds of discussion with the patient, her family, and her partner, she chose to remain a female and even planned to be married following the treatments. A vaginoplasty followed by clitoral reduction was done with a satisfactory result.
Clinical discussion: Disorders of sex development and differentiation is a rare but devastating condition. Various biological, psychological, and social issues are surrounding those affected by it. The burden was further aggravated for those who are late to discover their condition, especially those planning to be married.
Conclusion: Comprehensive and multidisciplinary approaches are needed to ensure the best outcome for DSD patients.
Keywords: Clitoromegaly; Disorders of sex development; Vaginoplasty.
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