17-β-hydroxysteroid dehydrogenase type 3 deficiency: Identifying a rare cause of 46, XY female phenotype in adulthood

Abstract

Objective: To review a case of differences of sexual differentiation (DSD) in an adult female patient and highlight the potential challenges and complexity in diagnosing and managing these conditions. Methods: We review a case of a 21-year-old 46, XY (+SRY) female presenting with primary amenorrhea and the clinical course leading to her suspected and confirmed diagnosis. Results: A 21-year-old 46, XY (+SRY) female presented with primary amenorrhea at age 21. Based on her clinical presentation, she was initially diagnosed with partial androgen insensitivity syndrome, but ultimately found to have 17-β-HSD3 deficiency due to a homozygous mutation in the HSD17B3 gene. Molecular confirmation of her condition, which may not always be performed in DSD cases, provided her a more accurate and individualized treatment plan as well as personal risk assessment for her family members. Conclusion: 17-β-HSD3 deficiency is reported to be a rare cause of female 46, XY DSD but may be overlooked in adult patients due to clinical similarities with androgen insensitivity and lack of genetic testing in suspected cases. It is essential to have a multidisciplinary team to help confirm the diagnosis and provide comprehensive care to affected individuals. Keywords: Differences of sexual differentiation, Androstenedione, 17-β-hydroxysteroid dehydrogenase type 3