Aetiology, Clinical Profile and Management Dilemmas in Transgender Children with Y Containing Chromosomes: The Tip of an Iceberg

Background: Difficulty in reaching an aetiological diagnosis and management issues are more in XY Disorders of Sex Development (DSD) than XX DSD. Clinical features are also similar between various aetiological types. Objective: To find out the aetiology, clinical profile and management dilemmas of transgender children having Y containing chromosomes. Materials and methods: A hospital based descriptive study was conducted in children with DSD from birth to 12 years of age who were attending pediatric and pediatric surgery outpatient and wards and endocrinology clinic of a tertiary care teaching hospital of south India for one year. Among them, those a Y containing chromosomes were analyzed for clinical features; investigated for arriving at a definitive diagnosis and management dilemmas were analyzed. Their gender identities were assessed. Results: Causes could be identified in 82.3% cases. 53% of cases were Androgen Insensitivity Syndrome (AIS). 71.5% of children are being reared as female. 48% of them are under irregular follow-up. Major reason being social stigma. Conclusion: Majority of cases of DSDs containing a Y containing chromosome is Androgen Insensitivity Syndrome. Majority of them being reared as females only. Those who are being reared as males will be either not having testis or dysgenetic testis or may have an abnormal looking male genitalia with or without hypospadias. Due to social stigma majority are under irregular follow up.