ESPE Abstracts

We report a male patient born small for gestational age (birth weight 2090 g, -2.97 SDS; birth length 43.5 cm, -3.37 SDS), with dysmorphic features (triangular face, low-set, posteriorly rotated ears, pectus excavatum, large anterior fontanel) who presented with seizures at the age of 4 weeks. The child was treated with antiepileptic drugs (Levetiracetam, Midazolam, Phenobarbital, carbamazepine) for 1 year until a severe hypocalcemia (Calcium 6.4 mg/dl, ionised calcium 0.78 mm...

Background: Hashimoto's Thyroiditis (HT) is a relatively common autoimmune disorder that involves both cellular and humoral immunity, the latter characterized by the presence of antithyroid antibodies. Nevertheless, despite the large number of relevant studies, the underlying pathogenetic mechanisms still remain unclear; evidence and indications pointing to both genetic and environmental components. Genetic studies have uncovered molecular associations tha...

Case: A South Indian boy diagnosed with ataxic telangectaisa(AT) since aged 5 years (homozygous mutations for ATM gene at C1966A>C and 1968-X.delI), presented with type 2 diabetes (T2DM) aged 15.9 years. There was a 4-week history of polyuria and polydipsia without weight loss. Investigations showed fasting glucose 11.5 mmol/l, insulin 209 pmol/l, HbA1c 103 mmol/mol, negative glutamic acid decarboxylase and islet cell antibodies, and urinary C-peptide 2.84 nmol/mo...

Background: A neonate, born at 34 weeks gestation by caesarean section for foetal distress, was severely growth retarded at birth. Deranged liver functions were noted at birth with (alanine transaminase (ALT), aspartate transamninase (AST) and gamma-glutamyl transfererase (GGT) recorded as 102, 228 and 1078 U/l respectively. The GGT rose to a peak of 3877 U/l at 6 months of age. The clinical course of the neonate was associated with failure to thrive and intermittent hyperglyc...

Background: Weight loss interventions for obesity have shown variable short-term effects in adolescents and children, but data on longer-term benefits are sparse.Aim: To describe longer-term impact of lifestyle weight loss interventions in adolescent obesity.Method: Obese subjects previously underwent lifestyle weight loss interventions at a hospital-based clinic were invited to participate in metabolic re-assessment. Outcome measu...

Background: Secretion of Wnt-proteins by adipose cells plays an important role in the control of adipogenesis. The Wnt-antagonist, dickkopf-1 (DKK-1), is secreted by human pre-adipocytes and influences adipocyte maturation and growth. DKK-1 mRNA increases 6 h after onset of human adipogenesis followed by an increase in DKK-1 protein. Of note, DKK-1 protein has been implicated also in bone remodeling pathways.Patients and Methods: In this study we measure...

Background and aims: Fat and bone are linked by a multitude of pathways supporting a skeleton appropriate for the mass of adipose tissue of the organism. We aimed to investigate the relations of adipose tissue hormones such as leptin, adiponectin, retinol-binding-protein-4 (RBP-4) and lipocalin-2 along with the low grade inflammation marker hs-CRP with markers of bone metabolism such as osteoprotegerin (OPG), receptor-activator of NF-κB ligand (RANKL), osteocalcin, C-term...

Background: Pseudohypoaldosteronism type 1 (PHA1) is a rare inherited disease characterized by mineralocorticoid resistance with subsequent salt wasting, hyperkalemia, metabolic acidosis, and elevated plasma renin and aldosterone levels.Patients and methods: We report a male newborn that presented with failure to thrive and sustained hyponatremia during his early postnatal period. He was conceived after IVF (twin pregnancy) and prematurely born by cesare...

Background: The optimal timing and appropriate first-line investigations for delayed menarche in an otherwise well teenager with fully developed secondary sexual characteristics is debatable.Case presentation: A 15 year-old female presented with parental concerns of cliteromegaly. Facial acne and primary amenorrhoea were also noted. Pubic hair development started at age 10 years and breast development age 12 years. Family history revealed delayed menarch...

Background: Diabetic ketoacidosis (DKA) is a severe and often the inaugural clinical manifestation of type 1 Diabetes (T1D). Diabetic nephropathy is one of the most devastating chronic complications of T1D and its’ early diagnosis is traditionally based on microalbuminuria.Objective and hypotheses: The aim was to investigate the possible associations between the initial clinical manifestations and the chronic complications of T1D.<p class="abste...