Sex Reassignment Dilemma in 4 Yemeni Siblings with Five Alpha-Reductase Type 2 Deficiency

Abstract

5α-Reductase two deficiency (5αR2D) is an autosomal recessive 46, XY disorder impacting the HeRD5A2 gene, causing ambiguous genitalia. Four Yemeni siblings with this condition sought guidance from the Sudanese Intersex Working Group (SIWG) in adulthood. A multidisciplinary evaluation was conducted, encompassing physical, mental, hormonal, and imaging examinations, although genetic mutation analysis of the srd5a2 gene was precluded due to limited facilities. Participants were initially assigned as females by an untrained birth attendant; the siblings later manifested virilisation before puberty, prompting a reassignment to the male sex. Despite presenting with 46 XY DSD due to 5αR2D, their sexual identity conflict led them to seek counsel from the SIWG. Comprehensive assessments confirmed the 5αR2D diagnosis. Extensive counselling with the family revealed their resolute decision to maintain the male sex despite concerns highlighted by the SIWG regarding future sexual function and fertility. This case underscores the significant challenges stemming from inadequate knowledge and interventions, emphasising the critical need for early diagnosis, proper genetic counselling, and expert management. Timely referrals to specialised facilities and consideration of options such as in vitro fertilisation (IVF) and preimplantation genetic diagnosis (PGD) for subsequent children are imperative. This report advocates for proactive measures in similar cases, emphasising the importance of tertiary care facilities for accurate diagnosis, informed decision-making, and optimal management of 5αR2D-related dilemmas.