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Article

Primary adrenal insufficiency in a patient with biallelic QRSL1 mutations.

European journal of endocrinology - 1 Sept 2022

Dursun Fatma, Genc Hulya Maras, Mine Yılmaz Ayşe, Tas Ibrahim, Eser Metin, Pehlivanoglu Cemile, Yilmaz Betul Karademir, Guran Tulay

Abstract excerpt

Background: Biallelic QRSL1 mutations cause mitochondrial 'combined oxidative phosphorylation deficiency-40' (COXPD40). COXPD40 has been reported to be invariably lethal in infancy. Adrenal insufficiency was weakly reported and investigated among seven previously reported patients with COXPD40. Objective: We report the clinical, biochemical, molecular, and functional characteristics of a patient with adrenal...

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Identifiers

PMID: 35894854
DOI: 10.1530/EJE-22-0233

Provenance

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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