ESPE Abstracts

Introduction: Obesity as a chronic inflammatory disease is associated with impaired prothrombotic state leading to atherothrombosis. A variety of prothrombotic factors have been implicated in the pathophysiology of this phenomenon, especially the von Willebrand factor (vWF) produced in endothelium, megakaryocytes and subendothelial connective tissue. The aim of this study was to investigate any possible association between the new inflammatory marker chitinase 3-like protein 1...

Introduction: Von Hippel-Lindau disease(VHL) is an autosomal dominantly inherited tumor syndrome that predisposes to development benign and malignant tumors. The prevalence of VHL disease is one in 36,000, and the penetrance is higher than 90%. PCC occur in up to 20% of VHL patients. Classically, it is characterized by having an adrenal location, mostly bilateral and being derived from the sympathetic nervous system, resulting in the releases of catecholamines...

Background: Vitamin D deficiency in children is a common cause of rickets, and a potential risk factor for extraskeletal adverse health outcomes. Its prevalence in Haiti has not been assessed.Objective and hypotheses: To examine the prevalence of vitamin D deficiency in dark-skinned young children in Haiti.Method: Cross-sectional study of healthy Haitian children 9 months to 6 years across thr...

Introduction: Non-communicable diseases are recognized as a major cause of morbidity in low and middle-income countries (LMICs). There are 21 francophone countries (>100 million speak French) in Sub-Saharan Africa (FSSA). We identified only 19 pediatric endocrinologists in FSSA (37% in Cameroon and Senegal) mostly trained in France or through the successful anglophone “Paediatric Endocrine Training Centers for (West) Africa” (PETC[W]A) offered i...

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: To delineate testicular responses to gonadotropin replacement in young males with genetically proven CHH.Patients and Methods: In n=72 young males with CHH and at least one variant detected within twenty-four investigated known CHH genes, gonadotropin replacement with hCG and rFSH s.c. was performed over a mean of 2±1 years. Bi-testicular volumes and serum Inhibin B served as baseline parameters, ...

Males with Klinefelter syndrome (KS) have impaired gonadal function due to sex chromosome aneuploidy (47,XXY), ultimately resulting in testicular atrophy and hypergonadotropic azoospermia, thus infertility. At what time serum testosterone (T) concentrations decline in affected individuals, thereby indicating lifelong replacement, is not predictable. An early testosterone treatment provides potential benefits with respect to body composition, neuro-muscular function and final h...

Growth failure is common in radiotherapy-treated long-term survivors of pediatric brain tumors. The aim of this study was to assess the changes in growth patterns before and after brain tumor diagnosis, the final height, and the risk factors for compromised growth. The incidence and treatment practices of growth hormone deficiency were analyzed.Methods: A cohort of 73 long-term survivors of childhood brain tumor (median age 27.2 years) w...

Objective: To evaluate the level of 25 (OH) D – vitamin in obese adolescents living in the South of Russia.Materials and method: We examined 20 obese adolescents with varying degrees of severity, aged 15.5±0.3 years, ten girls and boys. The comparison group consisted of ten healthy adolescents matched for age and sex. Obesity was calculated by BMI. Level of 25-(OH) D – vitamin was studied in the laboratory by ELISA (nmol/l). Furthermore, t...

The majority of patients with Variations of Sex Development (VSD) lack a genetic diagnosis. Patients that are born with atypical chromosomal, gonadal, or phenotypical sex, present a wide spectrum of phenotypes that are often associated with ambiguous genitalia, infertility as well as increased susceptibility to testicular or ovarian cancer. Many different genetic causes of VSD have been reported [2], but for more than 50% [3] of all VSD patients, the molecular cause of their c...