Serum Steroid Hormone Levels in Neobates Born from the Mother with Placental Sulfatase Deficiency.

Abstract

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.