ESPE Abstracts

Background: The hyperosmolar hyperglycaemic state (HHS) is rare, but recognised, life-threatening clinical entity in children with type 2 diabetes (T2DM). It is also reported as presenting feature in other types of diabetes and metabolic disorders. The estimated mortality in HHS is 10–20%, ten times higher than Diabetic Ketoacidosis (DKA).The mainstay of management involves aggressive fluid therapy with insulin and managing complications namely; rhabdomyolysis, multi-orga...

Background: Normal thyroid function is necessary for the optimal growth promoting effects of GH. Changes in the hypothalamic-pituitary-thyroid (HPT) axis following GH have been reported in subjects initially thought to be euthyroid. A specific group of patients, children with Prader-Willi syndrome (PWS), are thought to have a ‘vulnerable’ HPT axis.Objective and hypotheses: To evaluate the impact of paediatric GH therapy on thyroid hormone statu...

Background: Thyroid dysfunction is well-established feature in children with Down syndrome (DS). There are several reasons for both clinical (CH) or subclinical (SH) hypothyroidism in these children- thyroid dysgenesis and dyshormonogenesis early in life, thyroid insensitivity to TSH; or autoimmune disease during school age.Objective and hypotheses: Evaluation of thyroid function in children with DS.Method: Thyroid function from 80...

While steroid hormones as universal signals of intercellular communication arose very early in the evolution of life, it was only recently that their isolation and structural elucidation has been achieved. Steroid hormones are small, structurally closely related molecules sharing the typical 4-cyclic sterane basic structure. However, there is a big diversity of functionally different steroid hormones and their metabolism is complex. Thus, their analysis is highly challenging. ...

Background: A Europe-wide training program in Paediatric Endocrinology and Diabetes (PED) was initiated by Professor Leo Van den Brande in 1976. PED was recognised as a subspecialty in 1996 by the European Board of Paediatrics (EBP), which is a section of the Union of European Medical Specialists (UEMS). UEMS aims to ensure high standards for training across Europe and the minimum requirements are set out in the European Training Requirements (ETR). The first ...

Context: Steroid 17α-hydroxylase/17,20-lyase deficiency (17OHD) is characterized by decreased sex steroids and cortisol, and excessive mineralocorticoid action. The clinical symptoms of hypocortisolemia are subtle.Aim: The clinical, biochemical, and molecular characteristics of patients with 17OHD were evaluated to determine the factors influencing the time of diagnosis and the management.Pati...

Background: Progranulin (PGRN) displays pleiotropic biological functions including on early embryogenesis, cell proliferation, lysosomal or neuronal functioning and wound repair, and has been proposed as a biomarker for metabolic diseases. Increased PGRN levels have been reported in type 2 diabetes, nonalcoholic fatty liver disease and in preeclampsia associated to placental dysfunction. However, the ontogeny of PGRN concentrations and the potential value of P...

Background: Infants with Prader-Willi syndrome (PWS) exhibit stunted growth. However, little is known about the role of genes expressed from the imprinted PWS domain in healthy infants. This study aimed to analyze the relative gene expression of the SNURF-SNRPN/UBE3A cluster in the imprinted PWS domain in umbilical cord tissue, and its potential association with prenatal and postnatal growth in apparently healthy infants.Methods:...

Background: Pseudohypoparathyroidism 1A, newly classified as inactivating PTH/PTHrP signaling disorder type 2 (iPPSD2), is defined by resistance to parathyroid hormone, short stature and early-onset obesity. Short stature is caused by skeletal dysplasia and additionally, in some cases, also by the coexistence of growth hormone deficiency, as other hormonal resistances might be present (e.g. thyroid-stimulating hormone, growth hormone releasing hormone (GHRH), ...

Objectives: Survivors of childhood acute lymphoblastic leukemia (cALL) present elevated fracture rates compared to the general population. A polygenic risk score for estimated bone mineral density (BMD), named gSOS, validated to predict the risk of adult osteoporotic fracture, has been previously associated with significant fracture risk in childhood. We hypothesized that gSOS could be associated with long-term, bone health-related mobidities in survivors of c...