ESPE Abstracts

Introduction: Monitoring steroid hormone levels of children with endocrine disorders, such as congenital adrenal hyperplasia (CAH) and disorders of sex development (DSD), can be challenging. Dried blood spot (DBS) sampling can be helpful for these patients. DBS sampling is less invasive, easier to sample, and simpler to transport and store compared to venous blood sampling. Additionally, DBS sampling can be done at home at any time of the day, thus improving p...

Background: Isolated aldosterone synthase deficiency is a rare autosomal recessive disorder caused by pathogenic variants in CYP11B2. To date, more than forty different pathogenic variants in the CYP11B2 gene causing isolated aldosterone synthase deficiency have been identified. We report on a novel pathogenic CYP11B2 variant.Case report: The second child (male) of consanguineous, healthy parents, presented shortly after...

Background: Acquired Von Willebrand's syndrome (aVWS) associated with hypothyroidism is rare in children and more often diagnosed during the peripubertal period in the context of Hashimoto's thyroiditis.Case presentation: A 5-year-old girl was referred to the paediatric haematology unit for rectal bleeding, anaemia, and prolonged activated partial thromboplastin time. Her developmental and learning skills were no...

In children, autoimmune thyroiditis is often diagnosed with signs and symptoms such as goiter, short stature, and constipation. Delayed diagnosis of hypothyroidism may result in atypical signs and symptoms at presentation, depending on the severity of hypothyroidism. Von Willebrand disease (vWD) is the most common bleeding disorder caused by the quantitative or qualitative deficiency of von Willebrand factor (vWF). Acquired vWD (avWD) is a disorder characterized by low levels ...

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: Hyperinsulinism–Hyperammonemia (HI/HA) syndrome is a rare autosomal disease characterized by episodes of hypoglycemia related to consumption of high-protein containing foods or fasting with associated hyperammonemia secondary to an activating mutation in the GLUD1 gene. It often remains unrecognized until later in childhood because symptomatic episodes can be misinterpreted as epilepsy if patterns of hypoglycemia with fasting and protein-rich meals are not i...

Background & Objective: Indigenous children in Canada have higher rates of obesity and type 2 diabetes mellitus (T2DM) and diabetes-related complications when compared to non-Indigenous children. Indigenous knowledge-based view of health encompasses a holistic approach with physical, mental, emotional, and spiritual health dimensions. This view of health will likely impact their engagement in interventions targeting obesity and T2DM. This systematic review...

Background: A few patients with NS have been reported to harbour pathogenic mutations in LZTR1 gene. RAS regulation by LZTR1-mediated ubiquitination provides an explanation for the role of LZTR1 in human disease. Mutations in this gene could hence lead to NS phenotype. Three patients with mutations in this gene and compatible NS phenotype are herein described.Case 1: A 5 year-old boy with bilateral cryp...

Introduction: Wilms tumor is the most frequent pediatric renal malignancy and its usual presentation is an abdominal mass or hematuria. Unusual presentations have also been reported, such as paraneoplastic syndromes (acquired von Willebrand disease, sudden death due to pulmonary embolism and Cushing syndrome). These conditions can precede, occur concomitantly or present in a later phase of tumor development. Precocious puberty, as paraneoplastic endocrine synd...

Backround: Menstrual disorders are common among the adolescent girls. We examined the initial investigations performed in adolescents, presenting with frequent, heavy or painful periods. Although, usually abnormal uterine bleeding (AUB) in adolescent women is attributable to immaturity of the hypothalamic-pituitary-ovarian axis, underlying conditions such as coagulation disorders and anemia should always kept in mind. However, neither the laboratory nor the ultrasound investig...