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Placental steroid sulphatase deficiency
Archives of Disease in Childhood
|December 1, 1984
Summary
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.