Primary adrenal insufficiency in a patient with biallelic QRSL1 mutations

Dursun, Fatma; Genc, Hulya; Yılmaz Göler, AYŞE; Tas, Ibrahim; Eser, Metin; Pehlivanoglu, Cemile; Yilmaz, BETÜL; Güran, TÜLAY

doi:10.1530/eje-22-0233

Primary adrenal insufficiency in a patient with biallelic QRSL1 mutations

Dursun F., Genc H. M., Yılmaz Göler A. M., Tas I., Eser M., Pehlivanoglu C., ...Daha Fazla

EUROPEAN JOURNAL OF ENDOCRINOLOGY, cilt.187, sa.3, 2022 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 187 Sayı: 3
Basım Tarihi: 2022
Doi Numarası: 10.1530/eje-22-0233
Dergi Adı: EUROPEAN JOURNAL OF ENDOCRINOLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, PASCAL, Aquatic Science & Fisheries Abstracts (ASFA), BIOSIS, CAB Abstracts, Chemical Abstracts Core, EMBASE, MEDLINE, Veterinary Science Database
Marmara Üniversitesi Adresli: Evet

Özet

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.