ESPE Abstracts

Background: Precocious puberty (PP) is one of its variations which defines as appearance of physical signs of sexual development in a child prior to the earliest accepted age of sexual maturation, 7 years in girls and 9 years in boy. The exact mechanisms and genetic background of ICPP are not well understood. It is suggested that the kisspeptin neuropeptide, encoded by the KISS1 gene, could have role in this regard.Objective and hypotheses: Considering t...

Conclusions: Iodine nutrition status in children in both groups was optimal, based on urinary iodine concentration. Furthermore, there was no significant association between iodine intake and autoimmune thyroiditis....

Background: Hyperinsulinism/hyperammonaemia (HI/HA) syndrome is associated with postprandial hypoglycaemia and mild hyperammonemia. There is increased insulin release following protein ingestion, which is amenable to diaxozide therapy. While developmental delay and normoglycaemic seizures can also occur, hepatomegaly has not been reported. We report a child with HI/HA and hepatomegaly, mild learning difficulty and obesity, who was initially mistaken to have glycogen storage di...

Introduction: Congenital hyperinsulinism (CHI) is a heterogeneous group of disorders characterized by hypoglycemia and inappropriate insulin secretion. Prompt identification of CHI and its genetic causes are essential to minimize the risk of permanent neurological damage as well as guide treatment options for these patients. Although, there are 15 known monogenic forms of CHI, there remain 50% of patients without an identified genetic diagnosis, suggesting tha...

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...

Brother 1: 7 years old boy, with right genu valgum and short stature (−2,11 DS); X ray shows rickets features. Plasmatic Calcium 9.3 mg/dl; phosphate 2.5 mg/dl; Alkaline phosphatasas 460 U/l; Parathyroid hormone 83 pg/ml; 25OH Vitamin D 24 ng/ml. Urine calcium 159 mg/24 h (9.2 mg/K per day); Urine phosphate 870 mg/24 h; TmP/GFR 2.6 (NV:3.8 −5.0); proteinuria 100 mg/dl.Brother 2: 4 y.o boy with frequent respiratory diseases in infant period. G...

Background: Monitoring treatment of children with classic congenital adrenal hyperplasia (CAH) is difficult and biochemical targets are not well defined.Objective and hypotheses: To analyse the urinary steroid metabolome of children with classic 21-hydroxylase deficiency (21-OHD) during treatment with hydrocortisone and fludrocortisone.Method: We retrospectively analysed 553 daily urinary steroid hormone metabolite profiles determi...

Background and aims: Existence and diagnostic procedures of neurosecretory dysfunction (NSD) are still a matter of debate. The aim of the study was to analyse prediagnostic data of short-statured children with pathologic and normal spontaneous GH-secretion and to evaluate the effect of GH-therapy in NSD-patients.Methods: Of 90 children aged 3–16 years, in whom 12-hour night profiles for GH-secretion were performed (unicentric), in 49 NSD was diagnos...

Background: One major issue of newborn screening programs for 21-hydroxylase deficiency (21OHD) is the high rate of false-positive results, especially in preterm neonates. Urinary steroid analysis using gas chromatography–mass spectrometry (GC–MS) is used as a confirmatory diagnostic tool.Objective and Hypotheses: The objective of this study was to analyze diagnostic metabolite ratios in neonates and infants with and without 21OHD using GC&#150...

Background: For a few years now tubeless disposable patch pumps are available for insulin therapy.Objective and hypotheses: Alarmed by initially non explainable beginning metabolic decompensation of two children with type 1 diabetes during their hospital stay for the initial therapy adjustment with patch pumps and alarmed by patients’ reports of frequent premature pump changes and alarms, we decided to scrutinize the patch pumps under laboratory con...