Congenital hypopituitarism as a cause of undetectable estriol levels in the maternal triple-marker screen.

[aromatase deficiency]

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 alpha-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 alpha-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 .

Diseases
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Diseases presenting "including aromatase deficiency and 17 alpha-hydroxylase deficiency" symptom

aromatase deficiency

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