hrp0082pl6 | Genetics of Obesity | ESPE2014

Making a Diagnosis in Severe Complex Obesity

Farooqi Sadaf

With the rising prevalence of childhood obesity, there has been an increase in the number of children presenting with severe obesity. Whilst only a relatively small proportion of severely obese children will have the classical features associated with the well-established genetic obesity syndromes such as Prader-Willi syndrome, there is increasing recognition that highly penetrant genetic disorders can frequently present as severe obesity alone without developmental delay, dys...

hrp0098fc15.5 | Late Breaking | ESPE2024

Presence of neuropathy in children and adolescents with type 1 diabetes evaluated with bedside modalities

Agner Damm Julie , Dalgas-Madsen Amalie , Hansen Christian , Ascanius Pilgaard Kasper , Pociot Flemming , Willum Hansen Tine , Johannesen Jesper

Aims: To investigate the prevalence of diabetic polyneuropathy (DPN), cardiac autonomic neuropathy (CAN) and sudomotor dysfunction in children and adolescents with type 1 diabetes using bedside modalities. Secondly, to evaluate the co-existence of these types of diabetes neuropathies.Methods: Cross-sectional study including 221 children and adolescents with type 1 diabetes. DPN was assessed by vibration sensation thresho...

hrp0089p3-p320 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Central Precocious Puberty Appeared in Infancy Period in a Patient of Sotos Syndrome

Cetin Tuğba , Ceylaner Serdar , Şıklar Zeynep , Berberoğlu Merih

Background: Sotos syndrome is a rare syndrome; with distinctive clinical findings include typical facial appearance, learning disability; and overgrowth. Advanced bone age can be detected in some cases while precocious puberty reported only in two cases until now.Case: A 6,5 months of age male infant admitted to clinic with neuromotor delay and macrogenitalia. He was second child of unrelated healthy parents, and birth-weight was 4200 g. In physical exa...

hrp0089s2.2 | Gonads/DSD | ESPE2018

Disruption of Testicular Development and Function

Mitchell Rod

Male reproductive disorders are common and there is evidence for increasing incidence over recent decades. These disorders may present at birth (hypospadias and cryptorchidism) or in adulthood (infertility, testicular cancer) and can arise as a result of underlying genetic abnormalities or following environmental (e.g. phthalates) and pharmaceutical (e.g. analgesics, chemotherapy) exposures that impact fetal, neonatal of prepubertal testicular development. Understanding the re...

hrp0082np1.2 | Micro-RNAs in Health and Diseases | ESPE2014

The Role of MicroRNAs in Diabetes

Regazzi Romano

Background: MicroRNAs are small non-coding RNAs that regulate gene expression and play major roles in many physiological and pathological processes.Objective and hypotheses: Determine whether changes in microRNA expression contribute to β-cell dysfunction and/or loss and favor the development of diabetes.Method: Analysis of the changes in microRNA expression occurring in pancreatic islets of diabetes animal models and assessme...

hrp0084wg1.4 | Bone & Growth Plate | ESPE2015

Bone Tissue Characteristics in Pediatric Bone Disease

Fratzl-Zelman Nadja

Histomorphometric evaluation of transiliac bone samples represents a standardized tool for studying bone metabolism, yielding information on bone both static and dynamic parameters on bone formation and static resorption parameters. Beyond these routine evaluations, the identical bone biopsy sample can be further used to assess submicroscopic tissue characteristics of the bone matrix. At the material level, bone matrix can be considered as a mineral/organic matrix composite wh...

hrp0089wg4.7 | ESPE Diabetes Technology and Therapeutics Working Group | ESPE2018

Use of Social Media for Improving Glucose Control in Patients with Type 1 Diabetes Use of Social Media for Improving Glucose Control in Patients with Type 1 Diabetes

Petrovski Goran

One potential solution in improving Type 1 Diabetes (T1D) management is the use of technology, providing additional opportunities to support management, maintain and improve communication and engagement with healthcare services. Patients use Internet to search and interact with a community of patients with similar problems; to share clinical information; and to provide and receive support. Facebook with over 2.1 billion active monthly users worldwide is important source of inf...

hrp0086p2-p797 | Pituitary and Neuroendocrinology P2 | ESPE2016

Report Two Cases of Dopa-Responsive Dystonia

Zhuannan Jiang , Liyang Liang , Zhe Meng , Lina Zhang , Lele Hou

Background: Dopa-responsive dystonia is a genetic disease that rarely reported in domestic and foreign. Its clinical characteristics is so complex and diverse that it is easy to lead to misdiagnosis and delayed treatment. However, early diagnosis and timely and appropriate treatment can completely improve symptoms. Fortunately, now we can take advantage of gene sequencing to diagnose this rare disease.Objective and hypotheses: Understand the research pro...

hrp0086p1-p888 | Thyroid P1 | ESPE2016

“Semi-Hot” Thyroid Nodules Associated with GNAS Mutations in Three Adolescents

Lambert Anne Sophie , Rodrigue Danielle , Papin Jean Francois , Linglart Agnes , Bougneres Pierre

Background: Hot thyroid nodules are uncommon in children and adolescents. Hyperfunctioning adenoma do not always produce hyperthyroidism, but can precede the apparition of a truly toxic adenoma. Autonomous adenoma can be associated with mutations of TSH-R and some mutations of GNAS.Patients: Patient 1 presented mild clinical hyperthyroidism. Patients 2 and 3 were asymptomatic and had clinical euthyroidism. Examination revealed a unique isolated thyroid n...

hrp0082s1.2 | Disorders of Gsalpha Signaling | ESPE2014

McCune–Albright Syndrome

Collins M

The McCune–Albright syndrome can be a disease of striking complexity, the management of which can be challenging. However, an understanding of the physiologic consequences of the underlying molecular and developmental biology makes the evaluation and treatment of this disease relatively straightforward. MAS arises from activating mutations in the ubiquitously expressed cAMP-signaling protein, Gsα. The mutations occur very early in development, prior to gas...