02 October 2025
: Case report 
Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
Mistake in diagnosis, Diagnostic / therapeutic accidents, Unusual setting of medical care, Rare disease
Beshaier Almulhem
ABCEF 1,2*, Fatimah Mouayed AlJishi BDF 2, Mohammad Al-Qahtani ACE 1,2
DOI: 10.12659/AJCR.948210
Am J Case Rep 2025; 26:e948210
Figure 1 Genetic testing report of the patient, obtained through Whole-Exome Sequencing (WES) performed at IGENOMIX laboratory. The report identifies a homozygous variant of uncertain significance in the HSD17B3 gene; specifically, a missense mutation in exon 4. This mutation results in the substitution of leucine with histidine at codon 120. This genetic finding supports the diagnosis of 17-beta-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency.