EUROPEAN JOURNAL OF ENDOCRINOLOGY, cilt.187, sa.3, 2022 (SCI-Expanded)
Background: Biallelic QRSL1 mutations cause mitochondria! '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.