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Article

Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report.

Frontiers in endocrinology - 1 Jan 2022

Ali Naseer, Maharaj Avinaash Vickram, Buonocore Federica, Achermann John C, Metherell Louise A

Abstract excerpt

An eight-year old South Asian boy presenting with progressive hyperpigmentation was found to have primary adrenal insufficiency (PAI) in the form of isolated glucocorticoid deficiency. Follow up of this boy for nine years, until the age of 17 years showed normal pubertal onset and progression. Molecular evaluation, by targeted next generation sequencing of candidate genes linked to PAI revealed changes in two...

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Identifiers

PMID: 35418949
DOI: 10.3389/fendo.2022.860055
PMCID: PMC8995429

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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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