hrp0097p2-192 | Adrenals and HPA Axis | ESPE2023

Neonatal CAH screening in patients with rare causes of inherited primary adrenal insufficiency

Kurt Ilknur , Eser Metin , Kahveci Ahmet , Ucar Ahmet , Bulus Derya , Ozcabi Bahar , Guran Tulay

Background and objective: 21alpha-hydroxylase deficiency congenital adrenal hyperplasia (21OHD-CAH) is the most common etiology of inherited primary adrenal insufficiency (PAI) in children. Neonatal CAH screening is important for early diagnosis of salt-wasting 21OHD and other virilizing CAH (11beta-hydroxylase, 3beta-hydroxysteroid dehydrogenase deficiencies) and for avoiding mortality, especially in salt-wasting CAH. Neonatal CAH screening has become nationw...

hrp0095p1-206 | Adrenals and HPA Axis | ESPE2022

Primary adrenal insufficiency in a patient with biallelic QRSL1 mutations

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

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