hrp0095rfc3.5 | Early Life and Multisystem Endocrinology | ESPE2022

Chronotropic Insufficiency impairs Cardiorespiratory Fitness in Boys and Adolescents with Klinefelter Syndrome

Spiekermann Julia , Höppner Jakob , Sinningen Kathrin , Hanusch Beatrice , Brinkmann Folke , Schündeln Michael M. , Kleber Michaela , Kiewert Cordula , Grasemann Corinna

Background: Klinefelter syndrome (KS) is associated with an increased metabolic and cardiovascular risk profile1,2 and a metabolic syndrome is evident at a prepubertal age in 10% of the affected boys. Boys with KS tend to avoid competitive sports and describe themselves as ‘not good at sports’. Cardiopulmonary fitness in adults with KS has been found to be compromised by chronotropic insufficiency (CI) and a reduced maximal oxygen uptake...

hrp0094p2-176 | Fat, metabolism and obesity | ESPE2021

Exploring Urinary Bile Acids as Potential Markers of Metabolism: Reference Values in Children by Targeted LC-MS/MS

Schauermann Marcel , Wang Rong , Hartmann Michaela F. , Remer Thomas , Hua Yifan , Shmoish Michael , Bereket Abdullah , Wasniewska Malgorzata , Hochberg Ze’ev , Gawlik Aneta , Wudy Stefan A. ,

Bile acids (BA) are C24 steroids synthesized from cholesterol in liver. Originally, they were mainly considered to function as emulsifiers supporting resorption of lipophilic food compounds and excretion of metabolic products. Recently, their additional biological and endocrine functions in the regulation of metabolism have aroused interest of researchers. In contrast to BA in blood, it is surprising that hardly any data exist on BA in the most accessible human biof...

hrp0095p1-283 | Fat, Metabolism and Obesity | ESPE2022

Single Nucleotide Polymorphisms (SNPs) Profile as Predictive Markers of Lifestyle Modification Outcomes in Pediatric Obesity Treatment

Gawlik Aneta , Sobalska-Kwapis Marta , Antosz Aleksandra , Strapagiel Dominik , Seweryn Michal , Shmoish Michael , Bereket Abdullah , Wasniewska Malgorzata , Kırkgoz Tarık , Turan Serap , Guran Tulay , Aversa Tomasso , Corica Domenico , A. Wudy Stefan , F. Hartmann Michaela , Hochberg Ze'ev

Context: The response to lifestyle modification (LSM) in children with obesity is variable and difficult to predict.Aim: A systematic search for identifying common single nucleotide polymorphisms (SNPs) to predict positive outcomes of LSM in pediatric obesity management, defined as decrease in BMI z-score (based on IOTF).Patients/Methods: Out of 240 children with obesity (BMI>97...

hrp0095fc5.4 | Adrenals and HPA Axis | ESPE2022

Reference Growth Charts in Children with Congenital Adrenal Hyperplasia

Sarafoglou Kyriakie , Miller Bradley , Munoz Yesica , Jaber Mu'taz , Yaw Addo O.

Introduction: Adult height in individuals with Congenital Adrenal Hyperplasia (CAH) is reduced compared to the general population as their growth during childhood can be negatively impacted by both the disease and its treatment. Excess production of androgens through aromatization to estrogens can accelerate height velocity and skeletal maturity, and lead to short stature if not adequately suppressed. Over suppression of adrenal steroids through excess glucoco...

hrp0095p2-180 | Growth and Syndromes | ESPE2022

Beckwith-Wiedemann Syndrome: three case reports

Moscoso Joana , Cirurgião Filipa , Dias Joana , Laura Fitas Ana , Diamantino Catarina , Pina Rosa , Lopes Lurdes

Beckwith-Wiedemann Syndrome (BWS) is an overgrowth disorder, occurring in 1/13,700 births. BWS is usually sporadic, but 15% of cases are familial. Variable phenotype may include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycemia, lateralized overgrowth and predisposition to embryonal tumors. We describe three male cases of BWS followed at our clinic.Case 1: Born of a gestation complicated by gestational diabetes. Del...

hrp0089p1-p111 | Fat, Metabolism and Obesity P1 | ESPE2018

Selected Serum Adipokines in Children with Irritable Bowel Syndrome

Oświęcimska Joanna , Szymlak Agnieszka , Chobot Agata , Mazur Bogdan , Ziora Katarzyna

Background: Irritable bowel syndrome (IBS) is a functional gastrointestinal disorder. The pathogenesis of this disease has not been clarified so far. It is hypothesized that visceral hypersensitivity observed in IBS is associated with the activation of immune system and development of low-grade inflammation in the intestinal mucosa. Previous studies have shown that hormonal function of adipose tissue in inflammatory bowel disease is disturbed. However, there is only a few repo...

hrp0086p2-p82 | Adrenal P2 | ESPE2016

A Novel Mutation of HSD3beta2 Presenting as Hypospadias with Salt-wasting in a Male Infant

Buchanan C.R. , Kalitsi J. , Ghataore L. , Taylor N.F. , Clifford-Mobley O. , Rumsby G. , Kapoor R.R.

Background: HSD3B2 is a rare cause of autosomal recessive primary adrenal insufficiency, potentially associated with under virilisation of XY males and virilisation of XX females. We present a case of a male infant presenting at term with ambiguous genitalia (DSD) with underlying diagnosis confirmed biochemically and genetically with a novel mutation of HSD3beta2.Objective: Case report.Patients and methods: Baby was born as FTND wi...

hrp0086p1-p253 | Diabetes P1 | ESPE2016

Sulphonylurea Treatment in a Patient with Intermediate DEND Syndrome

Catli Gonul , Kocyigit Cemil , Gencpinar Pinar , Can Penbe S. , Dundar Nihal O. , Dundar Bumin N.

Background: DEND syndrome is characterized by developmental delay, epilepsy, and neonatal diabetes mellitus (NDM) due to mutations in KCNJ11 and ABCC8 genes. Intermediate DEND (iDEND) syndrome is a rare mild form with mild motor, speech or cognitive delay and an absence of epilepsy. Improvement in glycemic control and neurologic symptoms has been reported in three cases with iDEND syndrome.Objective and hypotheses: To present the result...

hrp0084p1-20 | Bone | ESPE2015

24-Hydroxylase Polymorphism as a Possible Contributor to the Increased 1,25(OH)2D in African Americans

Carpenter Thomas O , Cole David E C , Ardeshirpour Laleh , Salehpour Shadab

Background: States of vitamin D insufficiency are important determinants of rickets, as well as osteoporosis and other common complex disorders like diabetes, cancer, and infectious diseases. Although, serum concentrations of the vitamin D metabolites are primarily driven by vitamin D supply (by diet or cutaneous synthesis), there is emerging evidence to suggest that single nucleotide variants (SNVs) are important genetic determinants.Objective and hypot...