[Diagnosis of placental sulphatase deficiency (author's transl)].
In a 23-year old primipara who was in her 34th week of pregnancy, serum oestriol could not be identified, with no other abnormal clinical and endocrinological findings, which is why the authors suspected placental sulphatase deficiency. The placental sulphatase activity was tested by the intravenous application of dehydroepiandrosterone sulphate, and compared with the data obtained from a control patient with normal endocrinological findings. There was a slight increase in DHEA from 7.5 ng/ml to 18.0 ng/ml, whereas the serum values of oestrone and oestradiol did not change. In contrast, the control patient showed an excessive increase of DHEA from 5.5 ng/ml to 56.8 ng/ml. Oestrone and oestradiol also reacted with a strong increase of activity from 12.7 ng/ml to 42.7 ng/ml or 25.2 ng/ml to 61.2 ng/ml, respectively. A placental sulphatase deficiency with absence of hydrolysis of the applied DHEAS must be assumed as the reason for the deficient or absent reaction of DHEA and the oestrogens. The patient gave birth to a healthy boy in the 41st week of pregnancy, delivery being performed by caesarian section. Clinically normal course of pregnancy with lowered oestriol values, delivery by caesarian section in the case of primiparae, as well as male sex of the newborn, are criteria of placental sulphatase deficiency. These criteria correspond to the few observations published so far.
D000328:Adult; D003687:Dehydroepiandrosterone / Q000097:blood; D004958:Estradiol / Q000097:blood; D004964:Estriol / Q000097:blood; D004967:Estrogens / Q000097:blood*; D004970:Estrone / Q000097:blood; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010920:Placenta / Q000201:enzymology*; D010922:Placenta Diseases / Q000175:diagnosis; D011247:Pregnancy; D011374:Progesterone / Q000097:blood; D013429:Sulfatases / Q000172:deficiency*; D000509:alpha-Fetoproteins / Q000032:analysis
D004967:Estrogens; D000509:alpha-Fetoproteins; D004970:Estrone; D003687:Dehydroepiandrosterone; D011374:Progesterone; D004958:Estradiol; D013429:Sulfatases; D004964:Estriol
Die Diagnostik des plazentaren Sulfatasemangels.