Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report

    August 2025 in “ American Journal of Case Reports ”
    Beshaier Almulhem, Fatimah Mouayed AlJishi, Mohammad Alqahtani
    TLDR Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
    This case report details a 13-year-old phenotypic female with a 46,XY karyotype, initially misdiagnosed with Androgen Insensitivity Syndrome (AIS), who was later found to have 17-β-HSD3 deficiency due to a homozygous missense variant in the HSD17B3 gene. The report highlights the importance of accurate diagnosis in 46,XY Disorders of Sex Development (DSDs), emphasizing the need for genetic and hormonal testing to distinguish between conditions like AIS and 17-β-HSD3 deficiency. It stresses the value of early referral to pediatric endocrinologists to ensure precise diagnosis and management, as well as the consideration of psychosocial and cultural factors in gender assignment decisions.
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