Prenatal diagnosis of X-linked ichthyosis.
Prenatal diagnosis of X-linked ichthyosis in a case of steroid sulfatase deficiency was made at 16 weeks by the demonstration of (1) high levels of dehydroepiandrosterone sulfate in amniotic fluid; (2) gross deficiency of steroid sulfatase activity in cultured amniotic fluid cells; (3) very low estriol concentrations in maternal blood and urine; (4) increased maternal plasma dehydroepiandrosterone sulfate; and (5) a characteristic maternal urinary steroid profile with greatly increased levels of 16 alpha-hydroxydehydroepiandrosterone. The latter method is particularly useful since it requires no invasive procedures for the patient and is very specific.
D000328:Adult; D000653:Amniotic Fluid / Q000166:cytology / Q000378:metabolism; D000728:Androgens / Q000652:urine; D002478:Cells, Cultured; D003687:Dehydroepiandrosterone / Q000031:analogs & derivatives / Q000378:metabolism; D019314:Dehydroepiandrosterone Sulfate; D004964:Estriol / Q000378:metabolism; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011372:Progestins / Q000652:urine; D043266:Steryl-Sulfatase; D013429:Sulfatases / Q000378:metabolism; D014960:X Chromosome
D000728:Androgens; D011372:Progestins; D003687:Dehydroepiandrosterone; D019314:Dehydroepiandrosterone Sulfate; D013429:Sulfatases; D043266:Steryl-Sulfatase; D004964:Estriol