ESPE Abstracts

Objectives: Impaired fasting glucose (IFG) is a risk factor for the development of type 2 diabetes in adults. In obese children and adolescents, IFG and impaired glucose tolerance constitute distinct prediabetic stages, which do not necessarily coexist. Pathophysiological mechanisms leading to IFG in children have not been fully elucidated. Available data from cohorts of obese adolescents living in the US suggest a concurrent worsening of insulin sensitivity a...

Objectives: Compared to the US, prevalence rates of T2DM in obese children are significantly lower in European countries. Data from cohorts of obese children living in the US suggest a concurrent worsening of insulin sensitivity and ß-cell function over the spectrum of glucose tolerance. If these results can be applied to European populations is currently unknown.Methods: A combination of our novel method for mathematical modelling ...

Introduction: Hereditary causes of rickets often take longer to be diagnosed because they are not very frequent. 1α-hydroxylase alteration is the most frequent vitamin D-dependent rickets. A delay in the treatment associated to a late diagnosis generates an abrupt parathormone deficiency. When initiating treatment, these patients have a risk of hungry bone syndrome.Case: 2-year-8-month-old male patient, with a history of psychomotor...

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...

Background: Leptin, primarily secreted by adipocytes, is a pivotal signal of the body's energy status and exhibits pleiotropic effects. Homozygous mutations in the leptin gene which result in defective synthesis, release or bioactivity, cause intense hyperphagia and early-onset severe obesity, along with multiple metabolic, hormonal, and immunological abnormalities. In vitro and animal model studies suggest that leptin plays a role in linear growth. So far...

Background: Early-onset severe obesity due to leptin deficiency typically results from a defect of leptin production or secretion due to mutations in the leptin gene. Recently we described a new form of leptin deficiency caused by bioinactivity of the hormone and associated with high circulating leptin levels (New England Journal of Medicine 2015 372 48–54).Method: Serum leptin was measured by ELISA. The leptin gene was seq...

Introduction: Monogenic obesity refers to a group of rare, early-onset forms of obesity and accounts for about 7% of patients with severe pediatric obesity. Recent reports demonstrate the emerging role of Src-homology-2 (SH2) B adaptor protein 1 (Sh2b1), an important component in the leptin-melanocortin pathway, as a key regulator of leptin and insulin signaling, with possible roles in the pathogenesis of obesity and diabetes. SH2B1 deletions are found to be a...

Background: Apparent mineralocorticoids excess syndrome (AME) is an unusual cause of hypertension, caused by genetic mutation of type 2 11β-hidroxysteroid desydrogenase (11BHSD2) enzime, which metabolizes cortisol(F) to cortisone(E). Patients with AME born from consanguineous parents, are small for gestagional age (SGA) and could have nephrocalcinosis, hypokalemia and high plasma cortisol/cortisone relation (F/E).Objective: To tell the clinical and ...

Introduction: Primary osteoporosis are frequently linked to syndromic conditions such as osteogenesis imperfecta which also involves extra esqueletic tissues. With the advancement of medicine, this group has been reduced, due the ability to specifying the causal pathogenic variants. Among these, the LRP5 (Low-density lipoprotein receptor-related protein 5) gene mutations are the most frequent cause. LPR5 is a fundamental coreceptor in the wnt/betacatenin signa...

Background: Childhood adrenocortical tumours (ACT) are rare and have well been described as part of familial cancer susceptibility syndromes which are caused by single gene mutations including P53, MEN1, PRKAR1A, CTNNB1 and APC. Adenomas are the most common ACT, but adrenocortical carcinomas (ACC) occur as well. Childhood ACC can be part of the Li-Fraumeni Syndrome and Beckwith-Wiedemann syndrome. ACC can also occur in familial adenomatous polyposis coli (FAP). FAP is a colon ...