PLACENTAL STEROID SULFATASE DEFICIENCY - BIOCHEMICAL-DIAGNOSIS AND CLINICAL REVIEW

  • 1 January 1984
    • journal article
    • review article
    • Vol. 64  (1) , 49-54
Abstract
Cases (23) of placental steroid sulfatase deficiency are reported. All children were boys who later acquired ichthyosis of the recessive X-linked type. The steroid sulfatase deficiency was present in placental tissue, umbilical cord leukocytes, and cultured skin fibroblasts of affected boys. An antepartum diagnosis can be obtained either by detecting the enzyme deficiency in cultured amniotic fluid cells or by finding an elevated total excretion of androstene-triol, 16.alpha.-hydroxy-dehydroepiandrosterone, and 16.alpha.-hydroxy-pregnenolone in maternal 3rd-trimester urine. Vaginal delivery was accomplished in 16 patients (70%). No conspicuous pregnancy complications or neonatal problems were noted. Birth weights tended to be relatively low. Intervention is unnecessary unless other obstetric indications require it. The incidence of this disorder appears to be .apprx. 1/2000 male births.

This publication has 0 references indexed in Scilit: