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Placental steroid sulphatase deficiency
Archives of Disease in Childhood
|December 1, 1984
Insights
Low estrogen levels in pregnancy can signal fetal issues. Placental steroid sulfatase deficiency, linked to X-linked ichthyosis, can also cause these same pregnancy abnormalities.
Area of Science:
- Reproductive endocrinology
- Maternal-fetal medicine
- Medical genetics
Background:
- Low maternal plasma and urinary estrogen concentrations during pregnancy typically indicate fetal complications.
- These complications often include placental insufficiency or fetal adrenal hypoplasia.
Observation:
- Paediatricians and obstetricians are increasingly recognizing a condition that mimics these abnormalities.
- This condition is a deficiency in placental steroid sulfatase activity.
Findings:
- Deficiency of placental steroid sulfatase activity can lead to abnormal maternal estrogen levels.
- This enzymatic deficiency is associated with X-linked ichthyosis.
Implications:
- Awareness of placental steroid sulfatase deficiency is crucial for accurate diagnosis in pregnancy.
- This understanding aids in differentiating causes of abnormal fetal development indicators.
Abstract:
Low maternal plasma and urinary oestrogen concentrations in pregnancy are usually indicative of fetal problems, either placental insufficiency or fetal adrenal hypoplasia. Paediatricians, however, should follow obstetricians in becoming increasingly aware that deficiency of placental steroid sulphatase activity, a condition related to X linked ichthyosis, may produce the same abnormalities.