Abstract
We describe a new case of steroid 17-ketoreductase deficiency in a 46 XY male who was raised as a male already from 8 months of age and whose cryptorchidism was corrected prior the age of 4years. Despite early orchidopexy there was absence of spermatogenesis on testicular biopsy at 26 years of age. Hormonal findings at that time document the 17-ketoreductase deficiency, however the serum testosterone was not remarkably low (3.1 ng/ml) indicating that testosterone deficiency per se could not be responsible for tubular damage. Further, the patient underwent a normal male puberty except for gynecomastia. Thus this case suggests that absence of spermatogonia in previously reported cases (Imperato McGinley, Akesade and Goebelsman) was not attributable solely to cryptorchidism, which persisted until a postpubertal age. This is further supported by Millan's report, in whose patient one testis was descended, and another undescended, but both showed a few spermatogonia. At present we have not explanation for the absence of spermatogenesis, but suggest that the steroidogenesis defect may cause arrest of spermatogenesis in the developing testis.
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Dumic, M., Plavsic, V., Fattorini, I. et al. Absent spermatogenesis despite early bilateral orchidopexy in 17-ketoreductase deficiency. Pediatr Res 18, 1217 (1984). https://doi.org/10.1203/00006450-198411000-00100
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DOI: https://doi.org/10.1203/00006450-198411000-00100