hrp0095rfc11.1 | Late Breaking | ESPE2022

Six-months of treatment with exenatide improves glycemic control, but does not affect endogenous intact GLP-1 concentrations in adolescents with obesity

Stenlid Rasmus , Y. Cerenius Sara , K. Aydin Banu , S. Gjessing Erik , Manell Hannes , Weghuber Daniel , Forslund Anders , Bergsten Peter

Introduction: When used to treat obesity, glucagon-like peptide 1 (GLP-1) receptor agonists (GLP-1RA) improve both BMI and metabolic health. Liraglutide is approved by both the EMA and FDA for the treatment of pediatric obesity, from 12 years and older. However, 26 weeks after discontinuation of liraglutide, the weight lost during treatment is regained. Prolonged exogenous stimulation of hormone-specific receptors may influence endogenous hormonal regulation. ...

hrp0092fc9.4 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Prenatal Environment and Genetic Background Influence Urinary Steroid Excretion in Monozygotic Twins with Intra-Twin Birth-Weight Differences

Schulte Sandra , Woelfle Joachim , Schreiner Felix , Kasner Charlotte , Gruenewald Mathias , Hartmann Michaela F. , Wudy Stefan A. , Bartmann Peter , Gohlke Bettina

Background: Low birth-weight and unfavourable intrauterine conditions are associated with a subsequent impact on the endocrine system. Many studies reported hyperandrogenaemia and precocious adrenarche in children born small for gestational age (SGA). However, little information is available on steroid profiles in these subjects.Objective and Hypotheses: We followed genetically identical twins with intra-twin birth-weigh...

hrp0089fc11.4 | Bone, Growth Plate & Mineral Metabolism 2 | ESPE2018

Using Patient Derived Induced Pluripotent Stem Cells to Model Multiple Epiphyseal Dysplasia

Woods Steven , Harley Peter , Soul Jamie , Kamprom Ni , Bates Nicola , Wang Qi , Mortier Geert , Hardingham Tim , Kimber Susan

Multiple epiphyseal dysplasia (MED) is a chondrodysplasia characterised by delayed epiphyseal endochondral ossification, resulting in disproportionate short stature and early onset osteoarthritis. MED can be caused by heterozygous mutations in COMP, MATN3, COL9A1, COL9A2 and COL9A3, or bi-allelic mutations in SLC26A2. Human induced pluripotent stem cells (hiPSCs) are reprogrammed somatic cells which can differentiate to form all body tissues and have excellent potential for ti...

hrp0086fc12.5 | Neuroendocrinology | ESPE2016

Abnormal Corticospinal Tract Decussation in Kallmann Syndrome due to ANOS1 (KAL1) Mutations: An Explanation of the Mirror Movements Frequently Observed in These Patients

Gonzalez-Briceno Laura , Sonnet Emmanuel , Guimiot Fabien , Laquerriere Annie , Kerlan Veronique , Salem Douraied Ben , Gunczler Peter , de Roux Nicolas

Background: Mirror movements (MM) are frequently associated to Kallmann syndrome (KS). They are mainly observed in patients with ANOS1 (KAL1) mutations. MM have never been reported in ANOS1 mutated females. A defect in the contralateral inhibition of the pyramidal tract has been proposed as the mechanism of MM in KS but never demonstrated.Objective and hypotheses: To investigate the molecular mechanism of a familial case of gonadotropic deficiency in whi...

hrp0086fc13.6 | Management of Obesity | ESPE2016

Treatment for Early Onset and Extreme Obesity in Two POMC Deficient Patients: Successful Weight Loss with the Melanocortin-4 Receptor Agonist Setmelanotide

Kuhnen Peter , Clement Karine , Gottesdiener Keith , Fiedorek Fred , van der Ploeg Lex , Wiegand Susanna , Blankenstein Oliver , Gruters Annette , Krude Heiko

Background: POMC deficiency is an extremely rare monogenetic obesity syndrome generally characterized by early onset hyperphagia, red hair and adrenal insufficiency. So far treatment of obesity and hyperphagia with MSH substitution failed, either due to ineffectiveness or side effects of available MC4R agonists.Objective and hypotheses: We hypothesized that the new MC-4R agonist setmelanotide might be a treatment option in POMC deficient patients.<p ...

hrp0086rfc7.1 | Gonads &amp; DSD | ESPE2016

Tissue Engineered Collagen Based Tubular Scaffolds for Urethral Regeneration. A Novel Technology for the Surgical Treatment of VSD (Variation of Sex Development) Patients with Severe Hypospadias

Pinnagoda Kalitha , Larsson Hans M , Vythilingam Ganesh , Vardar Elif , Engelhardt Eva-Maria , Thambidorai Rajendrarao C , Hubbell Jeffrey A , Frey Peter

Background: Actual surgical procedures for the treatment of patients with VSD (Variation of Sex Development), in particular severe hypospadias, are associated with frequent post-operative complications.Objective and hypotheses: Tissue engineered collagen tubes are a promising alternative.Method: We elaborated a new, two layered, collagen based tube that can be sutured. Mechanical testing proved a better resistance of those tubes co...

hrp0086rfc9.8 | Pathophysiology of Disorders of Insulin Secretion | ESPE2016

Micro RNA and Diabetic Nephropathy

Abdelghaffar Shereen , Elmougi Fatma , Abdelaty Sahar , Elshiwy Yasmin , Elsayed Reham , Abdelrahman Heba , Mehawed Hend , Elgebaly Heba , Ahmed Sakinatalfouad , Elalfy Peter

Background: MicroRNAs (miRNAs) are short non-coding RNAs that repress target gene expression via post-transcriptional mechanisms.Objective and hypotheses: To study the expression of miRNA-25, miRNA-216, miRNA-21, miRNA-93, miRNA-377 in a sample of 100 type 1 diabetic patients with and without microalbuminuria to probe their role in development of diabetic nephropathy.Methods: Hundred type 1 diabetic patients, 50 with microalbuminur...

hrp0086p1-p99 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Automated Greulich-Pyle Bone Age Determinations in Children with Chronic Endocrine Diseases

Choukair Daniela , Huckmann Annette , Mittnacht Janna , Inta Ioana , Klose Daniela , Schenk Jens Peter , Bettendorf Markus , Thodberg Hans Henrik

Background: Prediction of adult height is a standard procedure in pediatric endocrinology, but it is associated with considerable interrater variability.Objective and hypotheses: To compare the new adult height prediction (PAH) method by automated bone age determination (BoneXpert™) with the conventional PAH method by Bayley Pinneau (BP) based on bone age determination according to Greulich & Pyle. Furthermore, to assess measures of bone health ...

hrp0086p1-p110 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Increase in Sclerostin After Rapid Weight Loss in Children

Birkebaek Niels H , Frystyk Jan , Lange Aksel , Holland-Fischer Peter , Kristensen Kurt , Rittig Soren , Vilstrup Henrik , Henning Gronbaek

Background: Sclerostin is secreted by the osteocyte and inhibits bone formation by osteoblasts and is thus a negative regulator of bone formation. In adults, sclerostin levels increase after weight loss, which may be prevented by exercise training. The effect of weight loss on sclerostin in children is unknown.Objective and hypotheses: To compare sclerostin levels in children before and after a 10 weeks stay at a weight loss camp (WLC).<p class="abst...

hrp0086p1-p916 | Thyroid P1 | ESPE2016

Papillary Thyroid Carcinoma in a Mother and Child Evolving after the Manifestation of Grave’s Disease

Al Badi Maryam , Lankes Erwin , Kuehnen Peter , Al Semani Aisha , Biebermann Heike , Krude Heiko , Schmid Kurt , Grueters Annette

Background: Familial PTC manifesting in childhood has been described only in single cases, mainly in the context of rare syndromes (APC-associated-syndrome, PTEN-hamartoma syndromes etc). PTC in Grave’s disease (GD) has been described in adults, but not in familial cases including young children.Objective and hypotheses: We investigated the association of large metastatic papillary carcinoma (PTC) in a 10 years old female and her mother evolving rap...