ESPE Abstracts

Background: Bardet-Biedl syndrome (BBS) causes early-onset extreme obesity and hyperphagia that is hypothesized to arise from leptin receptor dysfunction. Setmelanotide, a melanocortin-4 receptor (MC4R) peptide agonist, has been shown to induce weight loss in individuals affected by other rare genetic obesity disorders resulting from leptin-melanocortin pathway dysfunction upstream of MC4R.Objective: Report preliminary data on body weight, hunger scores,...

Introduction: The identification of obese patients with increased susceptibility and risk for glucose intolerance and type 2 diabetes requires an oral glucose tolerance test (OGTT). Reference values for Body mass index (BMI) and Tri-Ponderal mass index (TMI) according to age and sex of healthy children in Spain without malnutrition or obesity have recently been published (*). TMI values remain very uniform in both boys and girls from the age of 8 to 18 years, ...

Study of the histopathology of human type 1 and 2 diabetes through the national pancreatic organ donor (nPOD) consortium has yielded interesting new insights that should also aid us in developing improved therapeutic approaches.1. When insulitis is observed, it usually shows a predominance of CD8 T cells, some of which are autoantigen specific (see also Coppieters et al. JEM 2012). It will be therapeutically challenging to remove/prevent CD8 mem...

Abstract: Hypoglycemia is a frequent and one of the major metabolic emergencies in any age, causing a significant dilemma to reach the correct diagnosis and perform the appropriate management. it Has potentially devastating consequences on brain development and cognitive functions. It Is a heterogeneous disorder with many different possible etiologies, including hyper-insulinism, glycogen storage diseases, fatty acid oxidation defects, hormonal deficiencies (g...

Background: EuRRECa (European Registries for Rare Endocrine Conditions) is a new project incorporating the development of a core endocrine registry and the development of an e-reporting programme for rare endocrine conditions (e-REC) that are covered within Endo-ERN (https://eurreca.net/e-rec/).Methods: 24 Endo-ERN centres within 12 countries participated in a pilot phase of e-REC...

Background: Registries are of key importance for a centre of expertise. Endo-ERN consists of 71 reference centres (RCs) that cover several groups of rare endocrine conditions within 8 themes (www.endo-ern.eu). It is unclear if awareness, participation and availability of registries is uniform for all conditions within Endo-ERN.Objective: To determine the extent of engagement in registries of Endo-ERN members.<p cl...

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Introduction: Anastrozole, an aromatase inhibitor, prevents the conversion of androgen to oestrogen, which is required for the adolescent growth spurt and the attainment of peak bone mass. Anastrozole may help minimise bone age (BA) advancement in conditions associated with adrenal androgen excess, such as congenital adrenal hyperplasia (CAH) and premature adrenarche.Objectives: 1. To describe baseline characteristics an...

Background: The BoneXpert method is an automated determination of bone age, which employs deformable models of each bone to locate the bones, and extracts the component of the bone appearance related to maturity in a holistic, statistical manner. The BoneXpert has been validated on normal children and children with diagnoses typical of pediatric endocrinology. Multiple clinical studies suggested that BoneXpert has adequate accuracy, precision, and efficiency to be clinically u...

Backgound: Alopecia areata (AA) or Alopecia Totalis (AT) is an autoimmune disease directed at the hair follicle, either limited to patchy hair loss over the scalp (focalis), or as total loss of scalp hair (totalis) or as total loss of both scalp and body hair (universalis). Management can be challenging, and despite multiple treatment modalities, no therapy still stands. While localized AA may respond well to topical corticosteroids, many patients require more aggressive secon...