ESPE Abstracts

Introduction: Prenatal dexamethasone (Dex) therapy in female fetuses with congenital adrenal hyperplasia (CAH) has been conducted for 40 years but the dose given to the pregnant woman has never been fully evaluated in a randomized clinical trial. Prenatal Dex therapy is associated with potential side effects for both mother and child.Methods: In a study funded by the German Federal Ministry of Education and Research (BMB...

Background: Human peroxisomal fatty acyl CoA oxidase 1, encoded by the ACOX1 gene, catalyzes the first and rate limiting step in the beta oxidation of straight chain fatty acids in the peroxisomes. Biallelic mutations in ACOX1 are associated with pseudo-neonatal adrenoleukodystrophy characterized by severe hypotonia, seizures, psychomotor retardation followed by neuroregression, and death in early childhood. To date, primary adrenal insuffici...

Context: Inherited mitochondrial diseases are a group of disorders in which redox homeostasis is disrupted. The adrenal gland is particularly susceptible to oxidative stress associated with mitochondrial dysfunction. Furthermore, all adrenal steroid hormones are synthesized within the mitochondria. Therefore, novel genetic mitochondrial diseases emerge as rare causes of primary adrenal insufficiency (PAI).Objective: Char...

Background: Studies of Primary Adrenal Insufficiency (PAI) from Africa are scanty while in Sudan, congenital adrenal hyperplasia (CAH) followed by Triple A syndrome are the commonest reported genetic etiologies in children. Diagnosis is challenging, especially in resource limited settings where presentation can mimic common childhood diseases and facilities for biochemical and genetic testing are restricted.Patients & Methods...

Background: Deregulation of oxidative stress and accumulation of reactive oxygen species are metabolic factors that may affect tumor behavior. New recent insights revealed that the inner mitochondrial protein Nicotinamide Nucleotide Transidrogenase (NNT) is essential in the antioxidant defense mechanisms in the adrenal cortex. Studies have shown that long non-coding RNAs (lncRNAs) are important in cancer regulation. Recent studies demonstrated that lncRNA NNT-...

Introduction: The complicated surgical reconstruction of verilized female patients with congenital adrenal hyperplasia (CAH) aims to achieve normal external genital appearance and to maintain normal urogenital and sexual functions.Objective: To study the urological complications including urinary incontinence, urinary tract infection (UTI) and voiding dysfunction besides assessment of cosmetic outcome after surgical corr...