hrp0092rfc5.4 | Thyroid | ESPE2019

Thyroid Dysfunction in Patients Following Thymus Transplantation in a Tertiary Centre: A 10-Year Experience

Aftab Sommayya , Goff Nicole , Langham Shirley , Amin Rakesh , Hindmarsh Peter , Brain Caroline , Shah Pratik , Spoudeas Helen , Dattani Mehul , Worth Austen , Katugampola Harshini , Peters Catherine

Background: Thymus transplantation is undertaken for conditions associated with severe immunodeficiency. These comprise a number of genetic and syndromic associations including 22q deletion syndrome, CHARGE association, diabetic embryopathy, and other rarer conditions. Autoimmune thyroid dysfunctions (Hashimoto's thyroiditis and Graves' Disease) are described in the literature as the most common autoimmune disease after thymic transplant.<p class="...

hrp0089fc11.6 | Bone, Growth Plate &amp; Mineral Metabolism 2 | ESPE2018

Management of Severe, Protracted Hypocalcaemia in Patients Undergoing Thymus Transplantation in a Tertiary Centre: A 10-Year Experience

Goff Nicole , Katugampola Harshini , Monti Elena , Taylor Katherine , Amin Rakesh , Hindmarsh Peter , Peters Catherine , Pratik Shah , Spoudeas Helen , Dattani Mehul , Allgrove Jeremy , Brain Caroline

Background: Thymus transplantation is undertaken for conditions associated with severe immunodeficiency. These comprise a number of genetic and syndromic associations including 22q deletion syndrome, CHARGE association, diabetic embryopathy, and other rarer conditions. These conditions may also be associated with hypoparathyroidism and patients are therefore at risk of severe hypocalcaemia. There are no published guidelines for calcium replacement in these patients during the ...

hrp0089rfc6.4 | Fat, Metabolism and Obesity | ESPE2018

Functionality and Phenotypic Characteristics of Mutations in the Human Leptin Receptor

Nunziata Adriana , Funcke Jan-Bernd , Borck Guntram , von Schnurbein Julia , Lennerz Belinda , Moepps Barbara , Gierschik Peter , Fischer-Posovszky Pamela , Wabitsch Martin

Objective: Merge and standardize the scarce data on molecular and phenotypic findings of mutations in the human leptin receptor (LEPR) gene causing a rare form of severe early-onset obesity.Methods: We summarized functional and phenotypic traits of LEPR mutations reported in the literature in a structured and comprehensive manner. Additional data was obtained from 6 subjects of our outpatient clinic not reported so far. Functionality of mutations was ass...

hrp0089p2-p325 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

Growth Hormone (GH) Secreting Pituitary Adenomas in Paediatric Practice: 5 Cases Over 20 Years in a Single Tertiary NeuroEndocrine Centre

Brooker Elspeth , Munshid Sarrah El , Arya Ved , Kalitsi Jennifer , Ismail Dunia , Kapoor Ritika , Bullock Peter , Thomas Nick , Mandeville Henry , Aylwin Simon , Buchanan Charles

Background: Pituitary adenomas secreting GH rarely present in childhood. We report the clinical features, management and outcome of the 5 cases referred to a tertiary Paediatric Endocrine/Neurosurgical service over a 20-year period.Patients: **4 Male:1 Female - all aged 15 years at referral. Tanner puberty stages G3-5; B3. Clinical follow-up data range 2 months – 8 years.Clinical features at presentation: Headache, n=...

hrp0086p1-p194 | Diabetes P1 | ESPE2016

Longitudinal Monitoring of Pediatric Insulin Treatment in Germany and Austria: Age-Dependent Analysis of 63 967 Children and Adolescents with Type 1 Diabetes from the DPV Registry

Bohn Barbara , Karges Beate , Vogel Christian , Otto Klaus-Peter , Marg Wolfgang , Hofer Sabine E , Frohlich-Reiterer Elke , Holder Martin , Plamper Michaela , Wabitsch Martin , Kerner Wolfgang , Holl Reinhard W

Background: Depending on age, needs and preferences in insulin therapy strongly differ between children and adolescents with type 1 diabetes (T1D).Objective and hypotheses: To analyse trends in insulin regimen and type of insulin used over the last two decades in three age-groups of pediatric patients with T1D from Germany/Austria.Method: 63 967 subjects (<18 year of age) with T1D documented between 1995 and 2014 from the &#145...

hrp0082fc9.3 | Beta cells | ESPE2014

In Search for New Monogenic Diabetes Genes: PCBD1

Simaite Deimante , Kofent Julia , Gong Maolian , Ruschendorf Franz , Jia Shiqi , Arn Pamela , Bentler Kristi , Ellaway Carolyn , Kuhnen Peter , Hoffmann Georg , Blau Nenad , Spagnoli Francesca , Hubner Norbert , Raile Klemens

Background: Mutations in more than 20 genes are described to cause monogenic diabetes. Nevertheless, numerous families with diabetes of unknown ethology and suspected genetic defect have no molecular diagnosis. This not only impedes our understanding of disease mechanisms but also prevents from predicting the clinical course of the patients and applying the pathogenesis-oriented treatment.Objective: To identify novel gene(s), causing monogenic adolescent...

hrp0082p1-d1-109 | Fat Metabolism &amp; Obesity | ESPE2014

Identification of Brown Adipocyte Progenitor Marker Genes in Progenitor Cells from Human Deep Neck and Subcutaneous Adipose Tissue by Gene Array Analysis

Tews Daniel , Schwar Verena , Weber Theresia , Scheithauer Marc , Fromme Tobias , Klingenspor Martin , Barth Thomas F , Moller Peter , Fischer-Posovszky Pamela , Wabitsch Martin

Background: Studies in animal models revealed that brown and white adipocytes derive from different progenitor cells. Molecular characteristics of these cells have not been investigated in detail in humans.Objective and hypotheses: To identify novel markers of human brown adipocyte progenitor cells.Method: Progenitor cells from human paired deep neck and subcutaneous adipose tissue samples were obtained from n=12 subjects ...

hrp0082p2-d3-354 | Diabetes (2) | ESPE2014

An Infant with a Novel Kir6.2 Mutation Causing Neonatal Diabetes and Unexplained Lack of Response to Sulphonylurea

O'Connell Susan M , Mc Donald Aoife , O'Toole Norma , Bradfield Anne , Bradley Maura , Hattersley Andrew , Ellard Sian , Proks Peter , Mattis Katia K , Ashcroft Frances , O'Riordan Stephen M P

Background: Neonatal diabetes (NDM) is defined as diabetes developing before 6 months of age, affecting one in 100 000 live births. Permanent NDM is diagnosed in the first 6 months of life with no remission. The majority have a mutation in the ATP-sensitive potassium (KATP) channel (KCNJ11 in 31%, ABCC8 in 13%). Autosomal dominant and recessive forms are described. The majority of patients with NDM caused by KATP mutations respond to sulphonylureas.<p...

hrp0082p3-d3-690 | Bone (2) | ESPE2014

Prospective Evaluation of Bone Mineralization, PTH Regulation, and Metabolic Profile in Adult Patients with Hereditary Hypophosphatemic Rickets

Boros Emese , Rothenbuhler Anya , Haidar Hazar , Prie Dominique , Harvengt Pol , Vija Lavinia , Brailly-Tabard Sylvie , Chanson Philippe , Linglart Agnes , Kamenicky Peter

Background: Hereditary hypophosphatemic rickets (HHR) is a rare genetic disease characterized by renal phosphate wasting, caused by elevated circulating FGF23. Despite the current available treatment complications include short stature, hyperparathyroidism, pseudofractures, bone pain, bone demineralization and osteoporosis, nephrocalcinosis and enthesopathies. Elevated circulating FGF23 was recently involved in glucose metabolism and cardiovascular function.<p class="abste...

hrp0084fc3.3 | Diabetes | ESPE2015

Clinical Characteristics and Molecular Genetic Analysis of Six Patients with Pancreas Aplasia and Neonatal Diabetes: Predominance of PTF1A-Enhancer Mutations

Raile Klemens , Gong Maolian , Spagnoli Francesca , Chen Wei , Hummel Oliver , Darendeliler Feiza , Bober Ece , Abaci Ayhan , Krill Winfried , Thiel Susanne , Kuhnen Peter , Hussain Khalid

Background: Pancreas aplasia (PA) and neonatal diabetes mellitus (NDM) syndrome is a rare disease that usually presents in the 1st months of life.Objective and hypotheses: We aimed to characterize molecular genetic defects in a cohort of six NDM/PA patients with up-to-date unknown pathogenesis with optimum genetic testing.Method: As part of our ESPE-RU-project ‘Understanding the molecular basis of diabetes mellitus associated ...