hrp0098p1-72 | Multisystem Endocrinology | ESPE2024

Serum nesfatin-1 and GLP-1 concentrations in adolescent patients with anorexia nervosa/obesity.

Blaska Małgorzata , Zachurzok Agnieszka , Gołąb-Jenerał Katarzyna , Ziora Katarzyna

Introduction: Anorexia nervosa (AN) is a psychiatric disorder affecting mainly adolescents and young women, characterized by a restriction of energy intake leading to malnutrition, serious medical complications and high mortality. Until now the etiology of AN remains unknown and seems to be multifactorial. Patients with AN develop endocrine disorders related to disturbances of energy metabolism. Nesfatin-1 and glucagon-like peptide-1 (GLP-1) are involved in th...

hrp0098p2-194 | Growth and Syndromes | ESPE2024

Effectiveness of therapy with recombinant human growth hormone (rhGH) in patients with HLHS and short stature

Wędrychowicz Andrzej , Furtak Aleksandra , Ossowska Magdalena , Komorkiewicz Karolina , Roztoczynska Dorota , B. Starzyk Jerzy

Hypoplastic left heart syndrome (HLHS) is one of the most severe congenital heart defects. Despite medical progress, HLHS patients remain at risk of many complications of this cardiac defect and cardiac surgery, including growth failure. Some of them can be treated with recombinant human growth hormone (rhGH) fulfilling criteria of GH–deficiency (GHD) or having a history of intrauterine growth restriction or small for gestational age (SGA). We assessed the effectiveness ...

hrp0098p3-307 | Late Breaking | ESPE2024

Disorders of the Melanocortin Pathway: From Genetic Inheritance to Clinical Manifestations Based on a Family Case Study

Stepniewska Anna , Szczudlik Ewa , Preizner-Rzucidło Ewelina , Wójcik MAłgorzata , B. Starzyk Jerzy

It is estimated that single-gene mutations are responsible for 3-10% of childhood obesity cases. The most common of these is a mutation in the MC4R gene, occurring in about 1-6% of children and 1% of adults with early-onset severe obesity. We report on of 7-year-old male twins with severe obesity (86% and 75% excess body mass relative to height), starting from the second year of life, along with hyperphagia. The boys were born from a twin pregnancy, PIII, CC, at 37 weeks of ge...

hrp0094p2-216 | Fat, metabolism and obesity | ESPE2021

The effects of dextroamphetamine treatment in children with hypothalamic obesity

Samaan J , Welling MS , de Groot CJ , Abawi O , Burghard M , Kleinendorst L , van der Voorn B , van Haelst MM , Oude Ophuis B , Kamp GA , Rotteveel J , van Schouten-Meeteren AYN , van den Akker ELT , van Santen HM ,

Introduction: Children with hypothalamic dysfunction, e.g. due to a genetic or acquired cause such as suprasellar tumours, often suffer from hyperphagia and/or decreased resting energy expenditure (REE). This process induces uncontrollable weight gain, resulting in severe hypothalamic obesity (HO). No effective treatment is available yet for HO. Amphetamines are psychostimulants that are known for their appetite reducing and REE stimulating side effects. Here,...

hrp0092p1-28 | Diabetes and Insulin | ESPE2019

Elevated Anti-tissue Transglutaminase Antibodies in Children Newly Diagnosed with type 1 Diabetes do not Always Indicate Celiac Disease

Paketçi Ahu , Armagan Coskun , Erbas İbrahim Mert , Demir Korcan , Abaci Ayhan , Böber Ece

Introduction: The prevalence of celiac disease is 5–10 times higher in patients with type 1 diabetes mellitus (DM) than in the general population. Therefore, celiac serology should be screened intermittently in type 1 DM patients. However, anti-tissue transglutaminase (anti-TTG) antibody elevation may be detected incidentally at the time of type 1 DM diagnosis and regress spontaneously during follow-up, without medical or dietary interventions.<p clas...

hrp0089p1-p024 | Adrenals and HPA Axis P1 | ESPE2018

Gonadotropin-Dependent Pubertal Disorders are Common in Patients with Virilizing Adrenocortical Tumors in Childhood

Stecchini Monica F , Braid Zilda , More Candy B , Aragon Davi C , Castro Margaret , Moreira Ayrton C , Antonini Sonir R

Background: In pediatric patients with adrenocortical tumors (ACT), morbidity and mortality rates have been extensively evaluated. However, there are almost no data on the late consequences of early exposure to high androgen levels on pubertal development and on final height (FH) in these patients.Objective: To investigate the impact of early exposure to androgen excess on gonadotropin-dependent pubertal development and on final height (...

hrp0089p2-p304 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

Ultrasound-Based Measurements of Testicular Volume in 6–16 Year Old Boys: Intra- and Inter-Observer Agreement and Comparison with Prader Orchidometry

Oehme Ninnie , Roelants Mathieu , Bruserud Ingvild Saervold , Egil Eide Geir , Bjerknes Robert , Rosendahl Karen , Juliusson Petur B

Background: Prader orchidometry has been the standard method for evaluating testicular size. As this technique is subjective and tends to overestimate the testicular volume, ultrasound has been proposed as a more reliable method.Objective: To evaluate the intra- and inter-observer agreement of ultrasound measurements of testicular volume and comparison with Prader orchidometry.Materials and methods: Length, width and depth of the r...

hrp0086fc1.3 | Adrenals | ESPE2016

Steroidogenesis in the Human Fetal Adrenals at the End of the First Trimester

Savchuk Iuliia , Morvan M.L. , Soeborg T. , Antignac J.P. , Danielsson K. Gemzell , Bizec B. Le , Soder O. , Svechnikov K.

Background: Steroid hormones produced by the human fetal adrenals (HFA) are suggested to regulate intrauterine homeostasis and the maturation of certain fetal organs necessary for extrauterine life. Appropriate development and hormonal function of the HFA therefore are critical for normal fetal maturation and survival. Little is known about the possible relationship between the expression of steroidogenic enzymes and corresponding transcription factors in the HFA in vivo</...

hrp0084p1-63 | DSD | ESPE2015

Gender Identity Prediction in Adulthood by HTP Test (House-Tree-Family) in 46, XY DSD Patients

Batista Rafael Loch , Inacio Marlene , Oliveira Jr Ari , Brito Vinicius N , Costa Elaine M F , Domenice Sorahia , Mendonca Berenice B

Background: Patients with 46, XY DSD present conflicts and issues related to gender identity (GI) and change to male social sex in patients registered in the female social sex is not rare. The HTP test is a projective psychological test, which assesses aspects related to sexual identification. GI in this test is defined as female (F), male (M) or ambiguous.Objective and hypotheses: To evaluate GI in patients with 46, XY DSD by the HTP test and compare th...

hrp0084lbp-1265 | Late Breaking Posters | ESPE2015

Profiling of a Novel NSIAD-Causing Mutation of Vasopressin Receptor 2 and its Differential Effect on Receptor Trafficking Compared to Previously Identified Mutations

Tiulpakov Anatoly , White Carl W , Abhayawardana Rekhati , Zubkova Natalia , Seeber Ruth M , See Heng B , Pfleger Kevin D G

Background: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) results from gain-of-function mutations in the AVPR2 gene coding for vasopressin receptor 2 (V2R). In contrast, nephrogenic diabetes insipidus (NDI) is caused by loss-of-function mutations in AVPR2. Here we describe and functionally characterize a novel mutation located in the seventh transmembrane domain of V2R. This mutation was identified in a boy suffering from water-induced hyponatrem...