Absent Spermatogenesis despite Early Bilateral Orchidopexy in 17-Ketoreductase Deficiency

Abstract

We describe a 26-year-old patient with 17-ketoreductase deficiency who was raised as a male from 8 months and whose left testis was brought down at the age of 2.5 years and the right testis at the age of 4. Despite the early orchidopexy and not significantly decreased serum testosterone, he was sterile, and biopsy of the testes at the age of 26 revealed absence of spermatogenesis. This case indicates that the absence of spermatogonia in previously reported patients whose testes remained undescended until a later age could not be attributed solely to cryptorchidism. We suggest that decreased intratesticular testosterone due to steroidogenic defect in the developing testis mainly contributes to the arrest of spermatogenesis.

The Clinical and Molecular Heterogeneity of 17βHSD-3 Enzyme Deficiency

“…Histological evidence from gonadal tissue may show normal testicular structures, which can help exclude any structural abnormalities (testicular dysgenesis) as the cause for the 46,XY DSD. Despite early orchidopexy, absent spermatogenesis has been seen in patients raised as males with 17βHSD-3 deficiency rendering them infertile [49]. Although being reared as males, and well adjusted to the male gender role, to date no male with 17βHSD-3 deficiency has been fertile, thus infertility appears to be the rule in adulthood [23,48].…”