hrp0092p2-124 | Fat, Metabolism and Obesity | ESPE2019

Markers of Bone Metabolism in Obese Children and Adolescents

Kovalenko Tatiana , Larionova Maria

Relevance: Evaluation of bone metabolism is a new scientific direction in the study of the long-term effects of childhood obesity.Objective: To study markers of bone metabolism in children and adolescents with obesity.Materials and Methods: 74 children with overweight and obesity in accordance with the WHO criteria and 25 healthy children with an average age of 15.4[11.6;19.2] year...

hrp0089p3-p163 | Fat, Metabolism and Obesity P3 | ESPE2018

The Prevalence of Obesity in Boys in the Region of the Russian Federation

Larionova Mariya , Kovalenko Tatiana

Background: Obesity is one of the most frequent chronic diseases in the world, however the true prevalence of obesity in the RF remains at the moment insufficiently studied.Aims: To study the age features of the prevalence obesity in boys in the Udmurt Republic - the region in European part of the Russian Federation with the children population of 335 000.Methods: 4795 boys aged 1–17 years were surveyed, among them 2368 (49.4%...

hrp0084p2-198 | Adrenals | ESPE2015

Incidence of Nonclassical 21-Hydroxylase Deficiency in Russian Population as Estimated by the Carrier Frequency of V281l Mutation

Anosova Tatiana , Tiulpakov Anatoly

Background: Nonclassical 21-hydroxylase deficiency (NC21OHD) is one of the most common monogenic diseases. Its frequency varies significantly among different ethnic groups. In Russians the frequency of NC21OHD is unknown.Objective and hypotheses: To estimate the incidence of NC21OHD in Russia based on the carrier frequencies of the two most common mutations associated with this disease (V281L and P30L).Method: A total of 998 random...

hrp0084p3-908 | Fat | ESPE2015

The Prevalence of Obesity in Children and Adolescents in the Udmurt Republic

Kovalenko Tatiana , Larionova Maria

Background: Obesity is an increasing problem among children and adolescents in recent decades however official statistics are contradictory.Objective and hypotheses: The purpose of this epidemiological study was to determine the prevalence of obesity in children and adolescents in the Udmurt Republic – the region in European part of the Russian Federation with a child population of 300 thousand people.Method: According to the ...

hrp0095p1-577 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Pediatric transgender care from an endocrine perspective: experience over the past decade in a tertiary Swiss center

Mazzi Sara , Nussbaum Marie-Lou , Christa Flück E.

Gender dysphoria indicates a psychological distress due to any incongruence between biological sex and gender identity, while transgender identity refers to an individual, whose gender identity is the opposite of the biological sex. The number of gender dysphoric youth seeking hormonal care seems to rise worldwide. Therefore, numerous bioethical and medical controversies are raising about possible side effects of hormonal therapies, including interference with brain developmen...

hrp0092rfc15.3 | Late Breaking Abstracts | ESPE2019

Metformin Treatment Affects ACTH Receptor Activation and Downstream Signaling: A Potential Treatment for ACTH Excess Disorders and Management of Hyperandrogenic States

Parween Shaheena , Pandey Amit V. , Flueck Christa E.

Background: The peptide hormone adrenocorticotropin (ACTH or Corticotropin) is a major component of the stress response system in the Hypothalamus-Pituitary-Adrenal (HPA) axis. Under stress, it is secreted from the anterior pituitary and stimulates cortisol production from the adrenal cortex. Changes in ACTH production or action are associated with multiple disease conditions. In clinical situations like Cushing's disease, ectopic ACTH syndrome and congeni...

hrp0092p1-281 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

Virilization of a Girl at Puberty Due to a Unique Translocation of an Abnormal Duplicated Y-Chromosome to a Deleted Chromosome 9 Including the DMRT1 Gene

Graf Stefanie , Aliu Nijas , Zeino Mazen , Flueck Christa E.

Background: Virilization at puberty in girls remains a challenge. Several differential diagnoses must be considered including disorders of sex development (DSD) and tumors.Case Report: We report an 11.5-year-old girl who was referred to our center for progressive cliteromegaly since 6 months. Past medical history was remarkable for prematurity of 36 weeks gestation and for mild ongoing psychomotor delay. At presentation ...

hrp0092p2-3 | Adrenals and HPA Axis | ESPE2019

Contraceptives in Female Adolescents with 21-hydroxylase Deficiency (CAH) - a way to Optimize Treatment with Respect to Androgen Excess? A Pilot Study

Boettcher Claudia , Graf Stefanie , Flück Christa E

Background: At present, treatment of „classic" congenital adrenal hyperplasia (21-hydroxylase-deficiency, 21OHD) consists of glucocorticoid and mineralocorticoid replacement. However, often androgen excess and its negative metabolic impact are difficult to control without accepting glucocorticoid overtreatment, especially in adolescence. In healthy subjects oral contraceptives (containing ethinylestradiol) increase cortisol binding capacity and free c...

hrp0089fc1.3 | Adrenals & HPA Axis | ESPE2018

Targetting the Binding of ACTH to the Melanocortin Receptor by Structure Modeling and Design of Peptide antagonists to Block Excess Androgens in 21-hydroxylase Deficiency

Parween Shaheena , Fluck Christa E , Pandey Amit V

Background: The adrenocorticotropic hormone (ACTH) is a 39 amino acid polypeptide secreted by the anterior pituitary and regulates cortisol secretion from the adrenal cortex. Cortisol has negative feedback and regulates the synthesis and secretion of the ACTH. Excess ACTH is associated with a wide range of diseases including congenital adrenal hyperplasia (CAH). Classic CAH due to the 21-hydroxylase (CYP21A2) deficiency causes a reduction or loss of cortisol synthesis. Here th...

hrp0089p2-p246 | Growth & Syndromes P2 | ESPE2018

Poor Weight Gain in Prader-Willi Syndrome – Not Always Over-restriction Consider Coeliac Disease

Lateva M , Kassim A , Meade C , Maher R , McCrann A , Roche E

Introduction: Prader-Willi Syndrome (PWS) is a complex genetic condition associated with feeding difficulties, hypotonia, developmental delay in infancy; hyperphagia leading to extreme obesity, growth failure and behavioral problems in childhood. Coeliac disease (CD), is an autoimmune disease characterized by gluten intolerance and a variety of symptoms most commonly diarrhea or constipation and failure to thrive. In PWS the challenge is to optimize growth while avoiding obesi...