Undetectable estriol on the maternal triple-marker screen warrants close study.

2003 NOV 6 - (NewsRx.com & NewsRx.net) -- Undetectable estriol on the maternal triple-marker screen warrants close study.

"We are reporting a child with congenital panhypopituitarism, in whom deficient fetal steroidogenesis was suspected prenatally because of undetectable estriol levels measured in the maternal triple-marker screen. No fetal abnormalities were detected by ultrasonography. Amniocentesis demonstrated a normal 46, XX karyotype," researchers in the United States stated.

"Measurement of maternal urinary steroids failed to show elevation in the excretion of the major precursor for estriol, 16alpha-hydroxydehydroepiandrosterone, indicating that the fetus did not have steroid sulfatase deficiency (placental sulfatase deficiency), the most common genetic cause of extremely low estriol," explained I. Marshall and colleagues, Cornell University, Weill Medical College.

"The steroid analysis excluded other rare single gene defects, including aromatase deficiency and 17alpha-hydroxylase deficiency. We therefore suspected that the cause of low estriol in this fetus was adrenal insufficiency. Postnatal evaluation was consistent with panhypopituitarism, characterized by deficiency of all anterior pituitary hormones."

"Because ...