17β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) deficiency patient with gender dysphoria: insights into challenges in management.

Abstract

17β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) deficiency is a rare autosomal recessive disorder that impairs testosterone synthesis, leading to undervirilisation in 46,XY individuals. An individual in their early 20s, raised as female, developed male secondary sexual characteristics at puberty. Evaluation revealed a 46,XY karyotype. Hormonal and genetic analyses confirmed the diagnosis of 17β-HSD3 deficiency, showing the homozygous HSD17B3 mutation and a decreased testosterone-to-androstenedione ratio. Despite identifying as male, the patient opted against gender-affirming therapy, citing cultural and financial constraints as reasons for disinterest in further management. This reluctance emphasises the challenges of managing rare disorders of sex development (DSD) in resource-limited countries like India, compounded by limited awareness, social stigma and inadequate access to gender-affirming care. Psychosocial counselling was initiated to address gender dysphoria and educate the patient on long-term risks, including malignancy. However, the patient disengaged from follow-up discussions. This case highlights the importance of multidisciplinary care and societal support in addressing the needs of individuals with DSD.