ESPE Abstracts

Background: The variation in uptake of daily sc GH-injections is hardly known.Objective and hypotheses: There is a considerable variability in uptake of s.c. GH-injections both within and between children.Method: 65 children used (Genotropin® pen 4/16, needle 12 mm), dose 0.08–0.14 mU/kg per day within trials: TRN 87–010; 88–080; 88–177; followed yearly two–eight times 1992–1999 (n=214). ...

Objective: To evaluate the efficacy of the drug ‘Rastan’, (manufacturer JSC ‘Pharmstandard-Ufa Vita’), in children with GH deficiency at the beginning of treatment at different ages.Materials and methods: We examined two groups of patients with GH deficiency who receive the drug for 3 years. In group 1, nine boys and two girls with age at debut of therapy 5.88±1.35 (from 3.3 to 7.1 years); in the 2nd group of ten boys and two gir...

Background: Pallister-Hall syndrome (PHS) is a rare autosomal dominant disorder characterized by a complex of different abnormalities (polydactyly, bifid epiglottis, hypothalamic hamartoma, imperforate anus). Syndrome is cuased by mutations in the GLI3 gene. PHS is associated with hypopituitarism, early or precocious puberty.Objective: to demonstrate a patient with PHS treated with growth hormone (GH) and gonadotropin re...

Background: Insulin Autoimmune Syndrome (IAS) is a rare cause of hyperinsulinemic hypoglycaemia with only few descriptions in children in the literature. Drugs containing the sulfhydryl group, such as methimazol, are known to be a causative factor of this syndrome. Diazoxide and octreotide are usually ineffective in such patients.Objective: We aim to describe a rare case of IAS in a child, with a good response to a short course of glucocorticoid therapy....

Background: Insulin remains the mainstay treatment for diabetes type 1(T1D), more recently several technological advances have been introduced to assist with the treatment. Continuous Subcutaneous insulin infusion (CSII) devices and continues glycose monitors (CGM) have gained a lot of popularity and are thought to help patients achieve better glycaemic control. HbA1c levels can be used to assess glycaemic control. There are conflicting reports on whether thos...

Hypercalcaemic disorders in children may present with poor feeding, hypotonia, lethargy, dehydration, vomiting, polyuria, failure to thrive, seizures and hypertension. The causes of hypercalcaemia in children, which can be classified as parathyroid hormone (PTH)-dependent or PTH-independent, are similar to those occurring in adults except that primary hyperparathyroidism and malignancy which the most common causes in adults, and account for >90% of adult patients with hype...

Resistance to thyroid hormone mediated by defective TRβ (RTHβ) or TRα(RTHα).Separate genes (THRA, THRB) undergo alternate splicing, generating nuclear receptors (TRα1, TRβ1, TRβ2) with distinct tissue distributions, which mediate thyroid hormone action; the function of a non-hormone binding protein (α 2), derived from the THRA locus, is unknown.RTHβ a dominantl...

Introduction: Thyroid carcinoma in pediatric and young adult population presents contradictory features: it has higher rates of multifocal disease, local and distant metastasis and reccurence compared to the adult population, yet the 5-year survival rate is 98%. The rising incidence seen recently cannot be entirely explained by overdiagnosis, as increasing rates of advanced-stage disease are also observed. The rise consists primarily of papillary thyroid carci...

Background/objective and hypotheses: Parenteral nutrition (KIVD) relevance to known birth gestational age (GA) relations to the blood serum IG2/blood serum IGF binding protein 3 (IB3) ratio (IG2 through chronologically corresponding IB3, IG2/IB3) was studied in the not-life-threatened newborn (NWB).Method: SEX, GA (unit, complete week), postnatal age (PNA; unit, day), birth body weight (BW; unit, g), birth head circumference (HC; unit, cm), GA≤36 (...

Background: Homozygous natriuretic peptide receptor-2 (NPR2) mutations cause acromesomelic dysplasia, type Maroteaux, a skeletal dysplasia with extreme disproportionate short stature and recently, heterozygous NPR2 mutations have been identified also in patients with idiopathic short stature (ISS, 2–6%). SHOX mutations are found in ~2–5% of ISS cases and ~70% of Léri-Weill dyschondrosteosis (LWD) cases, characterized by disproportionat...