hrp0084p3-611 | Adrenals | ESPE2015

Methodological Considerations into the Approach for Genetic Diagnostics of Congenital Adrenal Hyperplasia in a Girl with SW Form and Relatively Higher Needs of Mineral Corticoids

Dineva Ganka , Stoeva Iva , Kirov Andrey , Todorova Albena , Iliev Daniel , Kaleva Narcis , Grozdanova L

Background: 80–95% of congenital adrenal hyperplasia (CAH) cases are due to mutations in the CYP21A2 gene encoding 21 hydroxylase. The residual activity of the gene defines the clinical form. Routine mutational screening of CYP21A2 defects is shown to effectively support the complex diagnostic and treatment procedure of newborns with CAH.Objective: We aimed to characterise the phenotype of a girl with compound heterozygosity of ...

hrp0095p1-458 | Diabetes and Insulin | ESPE2022

BMI in Bulgarian children and adolescents with type 1 diabetes mellitus – data of two national cross-sectional studies

Archinkova Margarita , Konstantinova Maia , Savova Radka , Iotova Violeta , Kaleva Narcis , Petrova Chaika , Popova Galia , Kundurdzhiev Todor , Witsch Michael , Slavcheva-Prodanova Olga

Pediatric overweight and obesity are also an issue in children and adolescents with type 1 diabetes (T1D). Body Mass Index (BMI) is an accurate and widely used clinical method for assessing childhood obesity.Objective: To analyze the BMI-standard deviation scores (SDS) in Bulgarian children and adolescents with T1D and its relationship with age, gender, type of insulin treatment, and HbAlc.Materials and Met...