STEROID SULFATASE DEFICIENCY

Thirty-six pregnancies have been described in the literature with proven deficiency of steroid sulphatase activity in the placenta. The pregnancies were characterized by normal fetal growth and development despite urinary and plasma oestrogen levels usually associated with fetal death. Urinary oestriol levels rarely exceeded 5% of normal pregnancy values. In many of the pregnancies there was failure of normal parturitional mechanisms and delivery by Caesarean Section was common. The greatly reduced oestrogen production associated with the enzyme deficiency demonstrates (1) the major importance of sulphoconjugated steroids in oestrogen biosynthesis in the placenta and (2) the indispensable role of the sulphatase enzyme in this biosynthesis. Recent studies of steroid sulphatase activity in skin fibroblasts have revealed a generalized deficiency of the enzyme in individuals born of affected pregnancies. It has also been recently recognized that children born of affected pregnancies develop the skin condition, ichthyosis (of the X-linked type), in the first year of life. A causal relationship between steroid sulphatase deficiency and at least one form of X-linked ichthyosis is therefore likely. The progeny of all pregnancies with placental sulphatase deficiency, to date, have been male. Genetic considerations of the incidence of the disorder suggests an X-linked recessive inheritance. © 1979.