ESPE Abstracts

Background: ROHHAD (rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation) syndrome is a rare and underdiagnosed disease with high mortality rate. When a neural crest tumor (NET) is detected (56% of patients) the acronym used is ROHHADNET.Aim: To analyze the relationship between clinical variables, hypothalamic-pituitary disorders, DXA parameters and neural tumors, in ROHHADNET patie...

Polycystic Ovary Syndrome (PCOS) is one of the most common endocrine disorders among women of reproductive age, and is characterised by chronic inflammation and in most cases by insulin resistance besides ovulatory dysfunction and hyperandrogenism. HMGB1 is a small protein with cytokine activity that can activate nuclear factor kappa light chain enhancer of activated B cells (Nf-kB), and signals through the Receptor for advanced glycation end products (RAGEs) and through the T...

Introduction: X-linked hypophosphatemia (XLH) is a rare hereditary condition caused by mutation in the gene encoding the phosphate-regulating endopeptidase homolog, X-linked (PHEX). It is characterized by altered phosphate homeostasis with persistent hypophosphatemia and hyperphosphaturia resulting in deficient skeletal mineralization, rickets, bone deformity, growth failure, dental problems, joint pain and impairment.Case Prese...

Background: Thyroid hormones (TH) play multiple effects on glucose metabolism. Some recent studies carried out in adult patients suggested an association between altered sensitivity to TH and type 2 diabetes, obesity, and metabolic syndrome. No studies are currently available on the presence of altered sensitivity to the action of TH in youths with prediabetes.Objective: To evaluate the relationship between sensitivity t...

The diagnosis of early thelarche is common in Pediatric Endocrinology consultations, with many cases lacking an organic cause. It can either spontaneously resolve, remain stable, or progress to precocious puberty. Early exposure to endocrine-disrupting environmental pollutants (EDs) with estrogenic and/or anti-androgenic effects during pregnancy or childhood may affect the timing of thelarche onset and/or puberty in girls. Further research is needed to better understand the in...

Despite significant advances in the medical management of childhood diseases, glucocorticoids (GCs) continue to be the mainstay of therapy for numerous serious conditions, including hematological malignancies, Duchenne muscular dystrophy (DMD) and inflammatory disorders. In order to understand the natural history of bone development in GC-treated children, a pan-Canadian longitudinal observational research study called "STOPP" (STeroid...

Catch-up growth (CUG) is characterized by a period of supranormal height velocity following a transient period of growth inhibition. The two classical hypotheses on the mechanism are the neuro-endocrine hypothesis (a central mechanism that would recognize the degree of mismatch between actual size and target size) and the growth plate hypothesis (local regulation of growth according to a preset cellular program of senescence, characterized by decreasing growth proliferation ra...

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: Cardiovascular disease (CVD) is the major cause of mortality in diabetes mellitus type 1 (T1DM). Dyslipidemia will increase this risk. Several guidelines have been published, how to treat dyslipidemia in T1DM, yet some studies have shown that the number of patients who are treated according to these guidelines is low.Objective and hypotheses: To investigate the frequency of dyslipidemia in children and adolescents with T1DM and if they are tr...

The transient activation of the hypothalamus-pituitary-gonadal (HPG) axis shortly after birth has been described as early as in the 70ies. This discovery has since been applied clinically as a ‘window of opportunity’ for diagnostic evaluation of patients suspected of endocrine disorders and differences of sex development. With the advent of increasingly more sensitive and specific analytical methods for peptide and steroid hormones produced in the pituitary, gonads...