title: Clinical spectrum of steroid sulfatase deficiency: X-linked recessive ichthyosis, birth complications and cryptorchidism.
abstract: When boys affected with steroid sulfatase deficiency are delivered, the lack of the enzyme in the placenta may cause birth complications. In postnatal life this gene defect gives rise to X-linked recessive ichthyosis. In a series of 25 patients birth complications were reported in 9 cases. Of these boys, 4 displayed bilateral inguinal cryptorchidism and one was affected unilaterally. In a further boy we observed unilateral inguinal cryptorchidism without a history of birth complications. In one patient who had been delivered by forceps, abdominal bilateral cryptorchidism resulted in severe hypogenitalism. A review of the literature revealed 30 cases with X-linked recessive ichthyosis displaying hypogenitalism or cryptorchidism or both. In conclusion, cryptorchidism should be considered as a further clinical manifestation of steroid sulfatase deficiency.
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D003456:Cryptorchidism / Q000201:enzymology* / Q000235:genetics; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000201:enzymology / Q000235:genetics; D007057:Ichthyosis / Q000201:enzymology / Q000235:genetics*; D007223:Infant; D008297:Male; D008875:Middle Aged; D007744:Obstetric Labor Complications / Q000209:etiology*; D010375:Pedigree; D010920:Placenta / Q000201:enzymology; D011247:Pregnancy; D043266:Steryl-Sulfatase; D013429:Sulfatases / Q000172:deficiency*
chemical_list: D013429:Sulfatases; D043266:Steryl-Sulfatase