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Article

Low estriol levels in the maternal triple-marker screen as a predictor of isolated adrenocorticotropic hormone deficiency caused by a new mutation in the TPIT gene.

Pediatrics - 1 Feb 2006

Weintrob Naomi, Drouin Jacques, Vallette-Kasic Sophie, Taub Ellen, Marom Daphna, Lebenthal Yael, Klinger Gil, Bron-Harlev Efrat, Shohat Mordechai

Abstract excerpt

Isolated adrenocorticotropic hormone (ACTH) deficiency (IAD) is a rare cause of adrenocortical insufficiency, especially in children, and may be an underestimated cause of neonatal death. Early postnatal diagnosis may prevent hypoglycemic seizures, Addisonian crises, and death. There are also occasional reports of prenatal diagnosis of IAD by findings on the maternal triple-marker screen (TMST), a combined serum...

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Identifiers

PMID: 16390921
DOI: 10.1542/peds.2005-1973

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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