THE CAUSES OF LOW OESTROGEN EXCRETION IN PREGNANCY: THE DEVELOPMENT OF DIAGNOSTIC METHODS FOR THE ANTENATAL DETECTION OF FAMILIAL CONGENITAL ADRENOCORTICAL HYPOPLASIA

Abstract

A pregnancy producing a boy with congenital adrenocortical hypoplasia is described. Consistently low oestrogen excretion, less than 10 μmol/24 h, was not associated with any anatomical abnormality or diminished growth of the fetus as judged by ultrasound examination. Fetoplacental steroid sulphatase deficiency was excluded by finding normal maternal excretion of oestrogen precursors, the 3β‐hydroxy‐5‐ene steroid sulphates. Generalized adrenocortical hypoplasia was proven in the baby boy by analysis of steroid metabolites excreted in his urine. He suffered from salt loss and progressive jaundice. Both were responsive to gluco‐ and mineralo‐corticoid replacement therapy. It is suggested that amniocentesis may be required for the antenatal diagnosis of congenital adrenocortical hypoplasia.