[Deficiency in placental sulfatase. Clinical and biochemical study of 3 cases].
Placental sulfatase deficiency is currently undetected because of the lack of clinical manifestation. However, such a diagnosis should be borne in mind as it would be unadequate to undertake drastic therapy thinking of acute foetal disease or anencephaly. In the case of a clear answer, the dynamic tests allow to diagnose prenatally the defect causing paradoxical low excretion of maternal urinary estrogens and so, to await in perfect safety for the birth of an healthy baby. The enzymatic defect can be confirmed by the biochemical study of placenta tissue in vitro. In the case of an unclear answer to the DHA-S and free DHA tests, we recommend to determine the foetal chromosomal sex before ascertaining the diagnosis.
D000328:Adult; D002585:Cesarean Section; D003687:Dehydroepiandrosterone; D004964:Estriol / Q000652:urine; D004967:Estrogens / Q000652:urine; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D006801:Humans; D008431:Maternal-Fetal Exchange; D010920:Placenta / Q000201:enzymology*; D010922:Placenta Diseases / Q000201:enzymology*; D011247:Pregnancy; D011248:Pregnancy Complications / Q000201:enzymology; D011276:Pregnanediol / Q000652:urine; D011296:Prenatal Diagnosis; D011374:Progesterone / Q000652:urine; D012737:Sex Factors; D013429:Sulfatases / Q000172:deficiency*
D004967:Estrogens; D003687:Dehydroepiandrosterone; D011374:Progesterone; D013429:Sulfatases; D004964:Estriol; D011276:Pregnanediol
Déficit en sulfatase placentaire. Etude clinique et biochimique de trois observations