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Congenital Hypopituitarism as a Cause of Undetectable Estriol Levels in the Maternal Triple-Marker Screen

Division of Pediatric Endocrinology (I.M., F.U., M.P.W., M.I.N., M.V.V.), New York Presbyterian Hospital-Weill Medical College of Cornell University, New York, New York 10021; Division of Neonatology (F.M.), The Valley Hospital, Ridgewood, New Jersey 07450; and Children’s Hospital Oakland Research Institute (C.H.L.S.), Oakland, California 94609

Address all correspondence and requests for reprints to: Ian Marshall, M.D., Division of Pediatric Endocrinology, New York Presbyterian Hospital-Weill Medical College of Cornell University, 525 East 68th Street, M630, New York, New York 10021. E-mail: iam2002{at}med.cornell.edu.

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. Measurement of maternal urinary steroids failed to show elevation in the excretion of the major precursor for estriol, 16-hydroxydehydroepiandrosterone, indicating that the fetus did not have steroid sulfatase deficiency (placental sulfatase deficiency), the most common genetic cause of extremely low estriol. The steroid analysis excluded other rare single gene defects, including aromatase deficiency and 17-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 this screen is now offered to more than half the pregnant women in the United States, reports of low estriol levels have become increasingly common. Therefore, it is essential that physicians be familiar with the various etiologies, perform the appropriate antenatal evaluation to determine the specific cause, and closely monitor both mother and child ante- and postnatally.

This work was supported by United States Public Health Service Grants HD00072, HD38940, and HD39707 and General Clinical Research Center Grant RR06020.

Abbreviations: AFP, -Fetoprotein; CAH, congenital adrenal hyperplasia; DHEA, dehydroepiandrosterone; DHEAS, DHEA sulfate; HCG, human chorionic gonadotropin; LAH, lipoid adrenal hyperplasia; 16-OH-DHEAS, 16-hydroxydehydroepiandrosterone sulfate; 16-OHAn, 16-hydroxyandrosterone; 16-OHEt, 16-hydroxyetiocholanolone; 17-OHP, 17-hydroxyprogesterone; PRL, prolactin; SLOS, Smith-Lemli-Opitz syndrome; StAR, steroidogenic acute regulatory protein; STS, steroid sulfatase deficiency, uE₃, unconjugated estriol.

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