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Article

Bioinactive ACTH causing glucocorticoid deficiency.

The Journal of clinical endocrinology and metabolism - 1 Feb 2013

Samuels Mark E, Gallo-Payet Nicole, Pinard Sandra, Hasselmann Caroline, Magne Fabien, Patry Lysanne, Chouinard Lucie, Schwartzentruber Jeremy, René Patricia, Sawyer Nicole, Bouvier Michel, Djemli Anissa, Delvin Edgard, Huot Céline, Eugene Dardye, Deal Cheri L, Van Vliet Guy, Majewski Jacek, Deladoëy Johnny

Abstract excerpt

CONTEXT: A 4-year-old girl and a 4-month-old boy presented with hypoglycemia, normal electrolytes, low cortisol, and high ACTH. A diagnosis of primary adrenal insufficiency was made and initial treatment was with glucocorticoids and mineralocorticoids. The genes known to cause ACTH resistance were normal. Whole exome sequencing revealed that the girl was compound heterozygous for POMC mutations: one previously...

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Identifiers

PMID: 23293326
DOI: 10.1210/jc.2012-3199

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POMC

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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