Clinical profile of patients with 46 XY disorders of sex development: a single centered experience




Clinical profile, Hormone replacement therapy, Reconstructive surgeries, XY disorders of sex development


Background: XY disorders of sex development are a complex entity that needs medical attention from childhood to adolescence and throughout life. The aim of the study was to analyze retrospectively the medical records of subjects with 46 XY disorders of sex development (DSD) and characterize their clinical profile and management course in a tertiary care centre.

Methods: 32 subjects with 46 XY DSD attending Endocrinology OPD / Gynecology between 2010 to 2020 were enrolled in the study. Data collected includes age at presentation, symptoms, sex of rearing, phenotype, external masculinisation score (EMS), karyotyping, gonadal features like location and histopathology, psychosexual domain and their management and follow up. Statistical Analysis: The mean and standard deviation was calculated for normally distributed data.

Results: The mean (SD) age of all study subjects (n=32) were 15.5 ± 5.32 years. 46 XY DSD included cases of complete gonadal dysgenesis (n=6), mixed gonadal dysgenesis (n=6), complete androgen biosynthetic defects (n=9), partial gonadal dysgenesis (n=2), 5-alpha-reductase type 2 deficiency (n=8) and 17 betahydroxysteroid deficiency (n=1). The most common clinical presentation was for primary amenorrhea followed by genital ambiguity and virilisation in females. Resection of testis at the earliest or a biopsy of the testis if resection is postponed in a female sex assigned 46 XY DSD is favored. Male sex assigned 46 XY DSD needs corrective surgeries and orchidopexy for undescented viable testis with periodic follow up for testicular malignancy.

Conclusions: 46 XY DSD’s may shares similarities in their clinical presentation, though age of presentation may be in a wide range. Proper gender assignment, gonadectomy, reconstructive surgeries, hormone replacement and time to time follow up for testicular malignancy in cases where the testes are preserved is the ideal management.

Author Biography

Darvin V. Das, Department of Endocrinology, Government Medical College, Thiruvananthapuram, Kerala, India

Assistant Professor,
Department of Endocrinology
Government Medical College, Thiruvanathapuram, Kerala


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Original Research Articles