Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.1.6.1 (sulfatase)
 3,205 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Placental sulfatase deficiency has been found in four pregnancies (cases 1 to 4) with inappropriately low levels of urinary estriol excretion (less than 1.3 mg. per day near term gestation) associated with healthy neonates. The basis of the diagnosis in these cases was the greatly limited capacities for hydrolysis of 14C-dehydroepiandrosterone sulfate (DHA-S) and 3H-estrone sulfate (0.2 mugCi each) to the free steroids during incubation of placental homogenates. Placental aromatase activities in vitro for free DHA and the concentrations of appropriate estrogen precursors in cord blood were normal or elevated. The defect was diagnosed prenatally in two of these cases on the basis of failure to increase the maternal excretion of urinary estriol (0.6 to 0.7 and 1.3 to 1.3 mg. per day, respectively) following acute instillation of DHA-S (250 mg.) into the amniotic fluid and on normal levels of estrogen precursors in cord blood. In comparison, a twofold increase in maternal estriol excretion was observed after infusing DHA-S into the amniotic cavity of a "high-risk" pregnancy having normal sulfatase and aromatase activities in vitro (case 5). These enzyme activities were also found to be similarly normal in another placenta from an undergrown fetus (case 6) and in six normal placentas. The clinical features of these pregnancies, the first ones described from the western hemisphere, are similar to reported cases: the newborn progeny are healthy males who appear to be developing normally. The prenatal diagnosis of the sex-specific placental enzyme defect has been made possible by the use of an intra-amniotic DHA-S loading test.
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PMID:Diagnosis of placental sulfatase deficiency.. 13 74

Steroid sulfatase is a membrane-bound microsomal enzyme, present in various tissues. In this report, data on sulfatase activity in peripheral blood leukocytes isolated from normal women and the characterization of its enzyme are studied. In addition, sulfatase activities in placental sulfatase deficiency (PSD) and ichthyosis patients including ichthyosis vulgaris (IV) and recessive X-linked ichthyosis (RXLI) were analysed and were compared with normal subjects. Steroid sulfatase activity was measured by using tritium labeled steroid sulfate as the reaction substrate. It is demonstrated that human leukocytes contain a sulfatase activity for pregnenolone sulfate (P5-S), dehydroepiandrosterone sulfate (DHA-S) and estrone sulfate (E1-S) respectively. This enzyme has a greatest affinity for P5-S, but the activity for E1-S was the highest among the three substrates. The steroid sulfatase activity in female leukocytes is significantly stronger than that in normal males (p less than 0.001) as determined by the cleavage of DHA-S. Sulfatase in leukocytes obtained from the PSD babies and RXLI patients had lower sensitivity. In the case of the mother affected with PSD, the activity was less than half of that in normal men (p less than 0.001) and the levels did not overlap with that in normal women. In patients with IV, the activities were in the normal ranges for both males and females. The measurement of leukocyte sulfatase activity would be a clinically useful tool for the diagnosis of PSD carriers and pedigree analysis.
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PMID:Steroid sulfatase activities in human leukocytes: biochemical and clinical aspects. 184 Apr 19

To study the effects of dehydroepiandrosterone sulfate (DHA-S) on placental steroid metabolism and maternal steroidal profiles at term, the following in vivo and in vitro experiments were performed. Two hundred mg of DHA-S was given to five pregnant women 30 minutes prior to delivery. After delivery, the placenta was collected and 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) and sulfatase activity was determined by measuring the rate of conversion of pregnenolone to progesterone and DHA-S to DHA. The amount of C21-delta 4-steroid in the placental tissue was measured by gas chromatography mass spectrometry (GC-MS) and compared with the control groups. The maternal serum concentration of several steroids was also measured by GC-MS before and after the administration of DHA-S. 3 beta-HSD activity in the placentae from the mothers who received DHA-S before delivery was significantly lower than in the controls. On the other hand, no significant change was observed in the activity of sulfatase. The serum concentration of progesterone (P) and 20 alpha-dihydro-P (20-P) before DHA-S loading decreased following the administration whereas estradiol (E), DHA, and androstenedione (A) levels increased. To study the direct effect of DHA-S and its related steroids on placental 3 beta-HSD activity, placental tissue samples were incubated with pregnenolone in vitro. Several other steroids were added simultaneously into the medium. It was observed that placental 3 beta-HSD activity was directly inhibited by DHA-S. These results indicate that DHA-S inhibits 3 beta-HSD activity in the placenta and subsequently causes a reduction in P and 20-P.
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PMID:Effects of DHA-S on placental 3 beta-hydroxysteroid dehydrogenase activity, progesterone and 20 alpha-dihydroprogesterone concentrations in placenta and serum. 214 69

Placental sulfatase deficiency (PSD) is a rare disorder with low estrogen production due to placental enzymatic deficiency. Although many papers have been published on this enzymatic deficiency, little information is available on steroidal environment in newborn babies from PSD mothers. Seven cases of PSD were confirmed and serum concentrations of nine steroids which included cortisol, free and conjugated pregnenolone, 16 alpha-hydroxypregnenolone, DHA and 16 alpha-hydroxy-DHA in cord blood at delivery and peripheral veins during the neonatal period were measured by radioimmunoassay. In all seven instances, healthy male infants were delivered, but six of the babies developed ichthyosis. Conjugated delta 5-steroid concentrations in cord blood were found to be high, while 16 alpha-hydroxypregnenolone was low when the PSD cases were compared with the controls. In the PSD cases, free 16 alpha-hydroxy-DHA and 16 alpha-hydroxy-pregnenolone were both lower than in controls during the first seven days after birth. These results indicate that the production of delta 5-C21 steroid in PSD infants is limited. In the present study of newborn infants with PSD, the pattern of circulating steroids was first demonstrated and the relationship between the sulfatase activity in the neonates and ichthyosis was discussed.
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PMID:Serum steroid hormone levels in neonates born from the mother with placental sulfatase deficiency. 215 Aug 12

To study the mechanism of production of estrogen during pregnancy, the following in vitro and in vivo studies were undertaken; 1) Weight of human placenta and total estradiol (E2) levels in the maternal peripheral vein were measured at different weeks of gestation. 2) Changes in E2 levels after DHA-S 100mg loading were calculated at the 1st, 2nd and 3rd trimesters. 3) Steroid enzyme activities including sulfatase, 3 beta-HSD and aromatase in placenta obtained in the 1st, 2nd and 3rd trimesters were measured. Results were as follows; 1) The weight of the human placenta increased gradually as gestation progressed. Twofold placental weight was noticed from the 2nd to the 3rd trimester. 2) Total E2 in the maternal peripheral vein increased steadily, being 4.07 +/- 1.74 ng/ml at the 1st trimester, 27.72 +/- 11.67 ng/ml and 104.12 +/- 57.89 ng/ml at the 2nd and 3rd trimesters respectively. The increase in E2 from the 2nd to the 3rd trimester was greater than that of the placental weight. 3) Increases in E2 following DHA-S loading were 1.01 ng/ml at the 1st, 29.2 ng/ml at the 2nd and 98.2 ng/ml at the 3rd trimester. 4) No significant differences were observed between placental 3 beta-HSD and sulfatase activities in the placenta obtained at the three different stages of pregnancy, while aromatase activity was found to be significantly higher in the placenta of the 3rd trimester than that of 2nd trimester. These results indicate that the remarkable increase in estrogen production in the 3rd trimester may be explained partially by increased aromatizing enzyme activity in the placenta.
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PMID:[Changes in placental enzymatic activities in relation to estrogen production during pregnancy]. 315 58

It is known that prostaglandin (PG)E2 and PGI2 can contribute to the ripening of the uterine cervix. To study the PG biosynthesis in cervical tissue, 14C-arachidonic acid was used to incubate the preparation of human cervical tissue obtained from pregnant women at delivery and non pregnant women at hysterectomy. Labeled PGE2 and 6-keto-PGF1 alpha (6PG), a stable metabolite of PGI2 were isolated on TLC, and the enzymatic activity was calculated from the formation of PGE2 and 6PG from arachidonic acid. The capacity to metabolize arachidonic acid to PGE2 and 6PG in cervical tissue obtained from pregnant women was 6 times higher than that from non pregnant women. Low enzymatic activity in the formation of PGE2 and 6PG were observed in cervical tissues from the patients with placental sulfatase deficiency and preterm delivery which were known to have a low estrogen environment. On the other hand, DHA-S administration to patients increased the formation of both PGE2 and 6PG. These results demonstrate that human cervical tissue possesses the ability to synthesize PGE2 and PGI2, and enzymatic activity increased during pregnancy, and was further enhanced by the administration of DHA-S. The results suggest that the steroids in the fetoplacental unit may be involved in the mechanism controlling the formation of PGs in the cervical tissue which lead the cervix to ripen at term.
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PMID:[Biosynthesis of prostaglandin in human cervical tissue]. 331 40

Sulfokinase, sulfatase, 17 beta-HSD, 20 alpha-HSD, 3 beta-HSD and 5 alpha-reductase activity and steroid concentrations including estradiol, estrone, estrone-sulfate, progesterone, 20 alpha-dihydroprogesterone, DHA and DHA-sulfate in endometrial tissue were examined in order to study the changes in steroid metabolism in relation to the menstrual cycle in the human endometrium. Thirty-one (14) proliferative and 17 secretory) endometrial tissue samples were obtained from women who underwent hysterectomy. Low enzymatic activity of sulfokinase, sulfatase and 17 beta-HSD activity were observed in the proliferative phase (0.25, 8.5, 3.1 nmole/mg protein/h). A pronounced increase in enzymatic activity was observed in the early secretory phase and activity gradually decreased toward the mid and late secretory phase. On the other hand, 20 alpha-HSD and 3 beta-HSD activity did not change during the cycle. 5 alpha-reductase activity was not detectable under the conditions used. The concentration of progesterone in the secretory phase was significantly higher than that in the proliferative phase. The concentration of estradiol in the proliferative phase was significantly higher than that in the secretory phase. There was no significant change in the concentration of estrone, estronesulfate, 20 alpha-dihydroprogesterone, DHA or DHA-sulfate during the cycle. The relationship between the steroid concentration and the enzymatic activity was discussed. The results suggested an active role of the endometrium in controlling the biological effect of steroids.
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PMID:[Changes in steroid enzyme activity in the human endometrium during the menstrual cycle]. 350 Feb 44

A pregnancy with placental sulfatase deficiency was suspected when a 31-year-old patient at 36 weeks of gestation was found to have extremely low urinary estriol excretion but an otherwise normal prenatal course. The maternal plasma level of estrogens was extremely low, whereas dehydroepiandrosterone sulfate (DHA-S) was normal. Following intravenous infusion of 100mg DHA-S, no rise in urinary or serum estrogens was noted. At 40 weeks of gestation, a male infant was delivered vaginally. In vitro incubation study confirmed the diagnosis of placental sulfatase deficiency. Arylsulfatase C activity was not demonstrated in sulfatase deficient placenta, whereas arylsulfatase C activity was detected in the cytoplasma of syncytiotrophoblast cells of all normal placentas, by light and electron microscopy.
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PMID:[Endocrinological and histochemical studies of placental sulfatase deficiency]. 398 Oct 46

Clinical and biochemical data of 16 typical cases of placental sulfatase deficiency have been observed. In vivo loading tests with DHA-S allowed us to make a prenatal diagnosis. In vitro experiments gave confirmation, showing zero or virtually zero placental sulfatase activity towards delta 5P or DHA sulfates Aromatase activities, when tested, were normal or more often less than standard values, the latter showing themselves rather large individual variations. All pregnancies were associated with the delivery of male neonates in good health but 3. The 15 living babies have been developing normally since then. These results, together with those reported in the literature, suggest that placental sulfatase deficiency is under control of an X-linked recessive character, this being supported by the recent observation of such a disorder in two sisters simultaneously pregnant. As to the high frequency problem of cesarian section, pointed out by several authors, we cannot conclude, from our own observations, that the defect has an obvious influence on the good outcome of labor, as 10 out of the 16 women delivered vaginally near term.
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PMID:Placental sulfatase deficiency: clinical and biochemical study of 16 cases. 644 1

Serum levels of total 16 alpha-hydroxydehydroepiandrosterone (16 alpha-OH-DHA) and 16 alpha-hydroxy-pregnenolone (16 alpha-OH-P5) which are considered to be a fetal origin have not been well documented. Radioimmunoassays using specific antisera against 16 alpha-PH-DHA-7-CMO-BSA and 16 alpha-OH-P5-#-succinate-BSA were developed and serum concentrations of these steroids in normal men and women, maternal peripheral vein (MV) during pregnancy, umbilical artery and umbilical vein at delivery were measured. Labeled 16 alpha-hydroxylated steroids were synthesized by microbiological method. The concentrations of 16 alpha-OH-delta 5-steroids were increased as pregnancy progresses. Both steroid levels in cord serum were statistically higher than those in MV. In the case of intrauterine fetal death and anencephalic pregnancy, significantly low levels of both steroids in MV and cord blood were found. On the other hand, pregnancy with placental sulfatase deficiency, showed high levels both in MV and cord vein. It is interesting to not that in normal pregnancy, maternal 16 alpha-OH-DHA levels correlated well with that of 16 alpha-OH-P5. However, in pregnancy with anencephalic fetus, there was no correlation between the levels of two steroids. From the results of in vitro experiment using placental tissue, 16 alpha-OH-progesterone was formed from labeled 16 alpha-OH-P5, whereas no metabolite was noticed when fetal adrenal tissue was used. From these in vitro and in vivo studies, a significance of the measuring of serum 16 alpha-OH-DHA and 16 alpha-OH-P5 during pregnancy is discussed.
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PMID:[A study of 16 alpha OH-DHA and 16 alpha OH-pregnenolone in feto-placental unit (author's transl)]. 646 3


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