ESPE Abstracts

Introduction: Diabetic neuropathy (DN) significantly reduces patients’ quality of life and increases cardiovascular death risk. However, it is the least recognized complication of diabetes. Z-2/Z-2 polymorphism of the aldose reductase (AKP1B1) gene increases the expression of the relative enzyme and is likely to contribute to DN expression.Purpose: To study the prevalence of DN in T1D children and adolescents and its associations with the h...

Introduction: Diabetic neuropathy (DN) is a common complication of type 1 diabetes mellitus (T1D) with significant morbidity in adulthood. The association between DN with long term poor metabolic control is well established. However, acute painful DN may present early in the course of the disease and may be reversible.Case presentation: A female adolescent, aged 12 years, with a T1D duration of 9 months, presented with acute metabolic derrangement (HbA1c...

Background: Diabetic neuropathy is among the least recognized complications of diabetes, despite its significant negative impact on survival and quality of life. Characteristic neuronal alterations may occur subclinically early in the course of the disease, even in childhood. The prevalence of subclinical neuropathy in paediatric population ranges from 7.9 – 19% in different studies.Objective and hypotheses: Our objective was to study the prevalence...

Background: After 50 years of hGH use for GH deficient (GHD) children the definition of the adequate hGH substitution dose and response remain uncertain.Objective and hypotheses: We hypothesized that subjects with GHD caused by congenital pituitary defects constitute an ideal model for defining substitution dose of hGH. Consequently, an appropriate study group was formed and pertinent long-term data were retrospectively analyzed.Me...

Background: Hypothalamic hamartomas (HH) are congenital morphogenetic defects frequently associated with central precocious puberty (CPP).Objective and hypotheses: Data on the outcome of girls with CPP due to HH are limited.Method: We report two patients with CPP caused by HH, one with normal fertility.Results: Patient 1, now aged 33 years, was examined at age 15 months (vaginal bleeding, breast and pubic hai...

Background: Pseudohypoaldosteronism (PHA) is a rare heterogeneous syndrome of mineralocorticoid resistance. PHA type 1 (PHA1) is characterized by neonatal salt loss, failure to thrive, dehydration and circulatory shock. It includes two forms: renal (autosomal dominant), due to mutations in mineralocorticoid receptor coding gene NR3C2, and systemic (autosomal recessive), due to mutations in subunit genes of the epithelial sodium channel (ENaC). ENaC is constituted of three subu...

Background: Acute painful neuropathy (APN) is a rare manifestation of diabetic neuropathy (DN) in T1D adolescents, associated with poor metabolic control. Eating disorders (ED) often present in T1D patients in association with metabolic derangement, leading to the development of diabetic complications.Case presentation: A teenage girl aged 12 years with a recently diagnosed T1D (duration: 9 months) was admitted with diabetic ketoacidosis...

Abstract: Combined Pituitary Hormone Deficiency (CPHD) is characterized by growth hormone and at least one other pituitary hormone deficiency. It is of varying etiology, extent and severity and it usually occurs sporadically with only 10% of cases being familial. Although pathogenic variants in more than 30 genes expressed during the development of the head, hypothalamus and/or pituitary have been identified so far to cause genetic forms of CPHD, the aetiology...

Background: The pathogenesis of type 1 diabetes (T1D) is multifactorial, caused by interaction of genetic, epigenetic and environmental factors that lead to the production of antibodies early on life and a gradual loss of insulin secretory capacity of the pancreas. The genetics and immunological characteristics of our T1D population have not been precisely identified.Objective and hypotheses: To compare biochemical, genetic and immunological features of ...

Background: There is a direct relation between C-reactive protein and leukocyte count as indicators of inflammation. The neutrophil lymphocyte ratio (NLR) is the balance between both cells and is considered a marker of low-grade inflammation and an indicator of high risk of cardiovascular events. An elevated NLR is related with type 2 diabetes (T2D), however, even when in type 1 diabetes (T1D) there is an underlying inflammatory process, an elevation of circulating neutrophils...