Placental sulfatase deficiency: maternal and fetal expression of steroid sulfatase deficiency and X-linked ichthyosis.
PSD-X-linked ichthyosis are manifestations of a similar disorder of an inborn error of metabolism characterized by a deficiency of steroid sulfatase. The decreased enzyme activity is due to the absence of the expression of enzyme (steroid sulfatase) protein. Affected individuals with this disorder are males (X-linked inheritance) with a frequency of 1/2000 to 1/6000 births. Homozygous females from cosanguineous marriages have been reported with this disorder. The diagnosis is suspected and confirmed by: Low estriol excretion; Negative DHEAS loading test Increased DHEAS in amnionic fluid; Normal DHEAS in cord plasma; Possible delayed or abnormal labor patterns; Decreased sulfatase activity in the placenta, fibroblast, erythrocytes, lymphocytes or leukocytes of affected individuals; Development of ichthyosis in male infants at 2 to 3 months of age.
D002874:Chromosome Mapping; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis / Q000201:enzymology / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D010922:Placenta Diseases / Q000201:enzymology* / Q000235:genetics; D011247:Pregnancy; D012737:Sex Factors; D043266:Steryl-Sulfatase; D013429:Sulfatases / Q000097:blood / Q000172:deficiency* / Q000235:genetics; D013577:Syndrome; D014960:X Chromosome
D013429:Sulfatases; D043266:Steryl-Sulfatase