Gender dysphoria in a child with 46, XX DSD due to salt wasting CAH at a tertiary care setting: A case report

Introduction

K was born at term via spontaneous vaginal delivery (uneventful perinatal course). The baby had atypical genitalia and was assigned male gender at birth. He was brought to our Institute (Department of Pediatrics) at 1 month with poor feeding, poor weight gain, progressive hyperpigmentation, and recurrent episodes of vomiting. Based on Prader stage 3 genitalia, hyponatremia, hyperkalemia, metabolic acidosis, elevated 17 hydroxyprogesterone, presence of a uterus on sonogram, and 46, XX karyotype; a diagnosis of salt wasting CAH was made. Parents counselled that the most appropriate gender of rearing for the baby would be female. Subsequently, K was reared as a female, later lost to follow-up. Upon returning at 6 years, K exhibited severe virilization, including increased phallic length and male gender role behaviour. On Psychiatry evaluation, K expressed distress to take up assigned gender (female) role and affinity to opposite gender role. K didn’t attend school or step out of his house for fear of being bullied, would have significant anger outbursts. Over time, poor compliance to medical management with glucocorticoids led to continued high endogenous androgen production, contributing to Gender dysphoria. A multidisciplinary approach was taken, K was started on low dose SSRI to help with the dysphoria and was discussed to continue on going gender affirming medical management.