ESPE Abstracts

Background: The association between primary hypoparathyroidism and celiac disease (CD) is uncommon in paediatrics, even more if they are not part of an autoimmune polyglandular syndrome (APS, almost exclusively type II). We describe a case of autoimmune hypoparathyroidism coexisting with celiac malabsorption.Objective and hypotheses: Valentina was a 7 year old female child when she was admitted in hospital because she had generalized seizures at home. Sh...

Background: Congenital hypoparathyroidism (CH) is a rare disease that usually responds well to conventional therapy with active vitamin D and calcium supplementation. The successful use of continuous s.c. recombinant parathyroid hormone (rhPTH1–34) infusion as a hormone replacement has been demonstrated in cases of CH caused by autosomal dominant hypoparathyroidism or autoimmune polyendocrine syndrome type 1.Objective and hypotheses: We r...

Background: Corticosteroids are medicines that are used to treat many chronic diseases. They are very effective anti-inflammatory drugs by suppressing the immune system, and are also used as a replacement therapy in conditions with low levels of endogenous cortisol. Glucocorticoid effects on bone metabolism include: reduced absorption of calcium in the intestine; increased calcium urinary excretion; increased bone resorption and reduced bone density. Corticosteroid treatment i...

Background: Stevens-Johnson Syndrome (SJS) is an acute life-threatening dermatosis characterized by conjunctivitis, oral ulcerations, fever and erythematous macules. The most important etiological factors are infections and drugs including anticonvulsants and nonsteroidal anti- inflammatories.Objective and hypotheses: Cases with both SJS and type 1 diabetes mellitus have been reported rarely in the literature. Herein, we report a diabetic case of recurre...

Introduction: Propionic Acidaemia (PA), an organic acidaemia, is characterized by episodes of decompensation with severe metabolic acidosis and hyperammonaemia. PA is associated with low bone mineral density and osteoporosis. Hypocalcaemia is known to occur in 35-65% of decompensations, however the underlying pathophysiology remains unclear. PTH resistance has previously only been described in one case of hypocalcaemia in PA and we report the first use of ...

Background: At present, treatment of „classic" congenital adrenal hyperplasia (21-hydroxylase-deficiency, 21OHD) consists of glucocorticoid and mineralocorticoid replacement. However, often androgen excess and its negative metabolic impact are difficult to control without accepting glucocorticoid overtreatment, especially in adolescence. In healthy subjects oral contraceptives (containing ethinylestradiol) increase cortisol binding capacity and free c...

Background: Topical steroids are commonly used in clinical practice for management of dermatological diseases. Clobetasol propionate is the most potent. They are systemically absorbed and may cause adverse side effects due to improper and prolonged use, such as iatrogenic Cushing's syndrome and adrenal insufficiency due to suppression of hypothalamic-pituitary-adrenal axis.Case presentation: A 7-month-old boy referre...

Introduction: Infantile Arterial Calcification (IAC) is a rare and frequently lethal condition. Children who survive the infantile period may develop fibroblast growth factor 23 (FGF23) mediated hypophosphatemia and rickets when IAC is due to mutations in the ENPP1 gene.Case: We present a female patient born to a family whose previous child died at birth with extensive vascular calcifications. Akin to the first sibling, our case presented with e...

Background: Triglyceride glucose (TyG) index, a product of fasting triglyceride and glucose, was widely used as an alternative tool for identifying insulin resistance in adults but not in children. Recent study in children showed association between the TyG index and HOMA-IR and a usefulness of TyG index as a surrogate marker of insulin resistance among adolescents.Objective: To evaluated the potential role of the TyG index as a predictor of impaired glu...

We described a family in which MODY-GCK was detected in 6 people and its course varied.Materials and methods: The diagnosis of GCK-MODY was verified by the proband and his relatives on the basis of direct automatic sequencing and sequencing by Sanger.Results: Proband – a boy of 12 years, diabetes mellitus (DM) type 1 is diagnosed at the age of 11 years. He felt polydipsia, polyuria. Body weight was normal, he has not any disea...