hrp0089p2-p031 | Adrenals and HPA Axis P2 | ESPE2018

The Relationship Between Vitamin D Status and Metabolic Abnormalities in Females with Classical Congenital Adrenal Hyperplasia: A Pilot Study

Hassan Mona , Ibrahim Amany , Abdou Marise , Atty Sahar Abdel , Nabil Diana

Congenital adrenal hyperplasia (CAH) patients have a higher frequency of obesity, visceral adiposity, hyperinsulinism, insulin resistance and hyperandrogenism. There is increasing evidence that low vitamin D status is associated with impaired β-cell function, insulin resistance and impaired glucose tolerance.Objectives: This pilot aimed to determine the status of serum 25 (OH) D levels in CAH female patients who are followed up in Diabetes Endocrine...

hrp0084p3-582 | Adrenals | ESPE2015

Rapid Molecular Diagnosis of CAH by Strip Hybridisation Assay in DEMPU

El-Mougy Fatma , Hafez Mona , Atty Sahar Abdel , Ibrahim Amany , Mehawed Hend , Musa Noha , Ekladious Sherif , Elsharkawy Marwa , Abdullatif Mona , Afif Alaa , Baz Heba El

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder in which more than 90% of CAH cases are caused by mutations of the 21-hydroxylase (CYP21A2) gene.Objective and hypotheses: To determine the mutational spectrum in Egyptian CAH patients attending Diabetes Endocrine and Metabolism Pediatric Unit (DEMPU) including family members of CAH patients.Method: The use of reverse hybridization assay for the mol...