hrp0098p2-25 | Adrenals and HPA Axis | ESPE2024

X-linked congenital adrenal hypoplasia due to a novel mutation in NR0B1 gene

Todorova Zdravka , Yordanova Desislava , Dimitrova Mihaela , Gerdjikova Vanya , Baycheva Mila

Introduction: NR0B1 gene encodes the DAX 1 protein, an untypical member of the orphan nuclear receptor superfamily. It plays a key role in the development and function of the adrenal glands and hypothalamic-pituitary-gonadal axis. Deleterious or intragenic mutations cause X –linked congenital adrenal hypoplasia manifested as primary adrenal insufficiency (PAI) in infancy or early childhood often combined with hypogonadotropic hypogonadism.<p class="a...

hrp0089p3-p132 | Fat, Metabolism and Obesity P3 | ESPE2018

Correlation Between Obesity, BMI and Insulin Resistance in Bulgarian Children

Yordanova Desislava , Stefanova Elisaveta , Kazakova Krasimira , Todorova Zdravka , Dimitrova Mihaela , Baycheva Mila

Background and aims: The spread of obesity among children and adolescents is increasing significantly in the last decades. The World Health Organisation defined the disease as a global epidemic and the need of complex interventions worldwide is well recognised. Obesity is major risk factor for many chronic diseases, including diabetes, cardiovascular and lung diseases, orthopaedic and skin problems, and cancer. There are strong predictors that 50% of pre-pubertal and 50–7...