Gender outcome in children with disorders of sex development: A cryptic misfortune

Aswathy Rahul, Sobhakumar Saraswathyamma


Background: Disorders of sex development (DSD) are an important cause of management dilemma for a clinician, especially due to the difficulty in assigning a suitable sex to them. Not many studies are reported regarding their gender outcome. Objective: To find out the gender outcome of children with DSD. Materials and Methods: A hospital-based descriptive study was conducted in children with DSD from birth till 12 years of age who were attending pediatric outpatient department and ward and endocrinology clinic of a tertiary care teaching hospital of South India for 1 year. Children with DSD who were registered in endocrinology clinic over the preceding 10 years were called for review. Those came for review were also included. They were analyzed for their assigned gender at birth, etiological diagnosis, current gender role and phenotype, treatment and follow-up patterns. Reinvestigations were done in needed cases. Results: A total of 38 cases were analyzed in the study. Work up could be completed in 92.1% of children. 60.5% cases were diagnosed in infancy, and 18.42% (n=7) of cases were identified above 5 years. Among those who were not assigned any sex at birth, 50% became phenotypic male and 50% became phenotypic female. 25% of the patients, who were assigned male sex at birth, changed to female sex. 100% of 46 XX DSD are being reared as females but only 44.4% of 46 XY patient are being reared as males. Conclusion: Sex assignment in DSD, especially 46 XY DSD, is a great challenge. Sex assignment must be based on a definitive etiological diagnosis, its natural course, gender role, gender identity, external genital structure and reproductive outcome and with proper counseling of the parents. Strict follow-up is inevitable.


Children, Disorders of sex development, Etiological diagnosis of disorders of sex development, Gender outcome

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Copyright (c) 2017 Aswathy Rahul, Sobhakumar Saraswathyamma

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