17β-Hydroxysteroid dehydrogenase III deficiency

17β-Hydroxysteroid dehydrogenase III deficiency
Other names17 alpha ketosteroid reductase deficiency of testis, 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency, 17-ketoreductase deficiency, 17-ketosteroidreductase deficiency.
Biochemical effects of 17β-hydroxysteroid deficiency-3 in testosterone biosynthesis. Typically levels of androstenedione are significantly increased, whilst testosterone levels are decreased, leading to male undervirilization.
SymptomsHypothyroidism, Cryptorchidism
CausesMutations found in the 17β-HSD III gene
Diagnostic methodGenetic testing
TreatmentGonads should be monitored (possible malignancy)

17β-Hydroxysteroid dehydrogenase III deficiency is a rare autosomal recessive disorder of sexual development condition that is a cause of 46,XY disorder of sex development (46,XY DSD). The impaired testosterone biosynthesis by 17β-hydroxysteroid dehydrogenase III (17β-HSD III), presents as atypical genitalia in affected males.

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