ESPE Abstracts

Background: Pseudohypoparathyroidism (Albright hereditary osteodystrophy (AHO)) is a rare congenital disorder mainly affecting bone and thyroid metabolism as a result of resistance of parathyroid hormone (PTH) and thyrotropin (TSH), gonadotropins, growth hormone-releasing hormone (GHRH) and calcitonin in the target tissues. According to the consensus statement "Diagnosis and management of pseudohypoparathyroidism and related disorders" published in 201...

While it has been established that within the first 4 months of life there is an absence of the circadian rhythm guiding cortisol secretion, it remains unclear if a random serum cortisol (rSC) level is useful in diagnosing neonatal primary adrenal insufficiency (PAI). The objective of this study is to determine the utility of rSC in determining PAI within the first 4 months of life. This is a retrospective chart review of subjects who had rSC collection and high dose cosyntrop...

Background: Central diabetes insipidus (CDI) is a rare disorder in the pediatric population. CDI may be the first symptom of a brain tumor, metastatic lesions, or granulomas. The close follow-up of patients with CDI may early detect pathologic processes, especially intracranial tumors.Methods: We present four pediatric patients diagnosed with CDI of different etiology.Pat...

Introduction: Longitudinal skeletal growth is achieved by enchondral ossification in epiphyseal growth plates (GP) of long bones and vertebrae. These highly organized cartilaginous tissues contain chondrocytes of all differentiational stages classified in three distinct zones named resting, proliferative and hypertrophic. Separated analysis of individual zones is essential in basic GP research thus efficiency of different zonal separation methods confers high ...

Background: Short stature, increased adiposity and insulin resistance are conditions frequently observed in patients with Turner syndrome (TS). Many hormones are involved in the pathogenesis of the condition but therapeutic options we can offer to the patients are still scant. Each newly discovered peptide give us hope. Klotho play a very important role in the regulation of the human body metabolism and was not investigated in patients with TS so far.<p cl...

Introduction: Thyroid hormone resistance (THR) is a rare syndrome which is characterized by reduced response to thyroid hormones at tissue level. The disorder is caused by genetic mutation in the thyroid hormone receptor. The most common are a heterozygous thyroid hormone β (THRβ) gene mutations. Laboratory tests usually show normal or elevated level of thyroid- stimulating hormone (TSH) and high concentration of thyroid hormones (T3 and T4).<p c...

Context: Quality of survival (QoS) is frequently impaired in childhood-onset craniopharyngioma (CP) patients due to sequelae caused by the hypothalamic syndrome. The debate, whether primary hypothalamic involvement (HI) has apriori prognostic impact or surgical hypothalamic lesions (HL) determine outcome, is controversial. Accordingly, we analyzed, whether CP patients at high risk for hypothalamic obesity due to primary HI of anterior and posterior hypothalamic structures bene...

Background: Hyperphosphatemic conditions such as chronic kidney disease are associated with muscle wasting and impaired life quality. While muscle regeneration relies on myogenic progenitor recruitment, the effects of high phosphate loads on this process has not been investigated in detail. This study aims to clarify the direct effectsof hyperphosphatemic conditions on skeletal myoblast differentiation in an murine cell model system.Material and methods:...

Introduction: Klotho is a protein which may serve as a regulator of GH secretion. Growth hormone deficiency is diagnosed in children with growth restriction when GH secretion in two GH stimulation tests do not exceed the level of 10 ng/ml.Aim: The objective of the study was to investigate Klotho and FGF23 in children with growth hormone deficiency (GHD) and their responce to the treatment with recombinant human growth hormone (rHGH).<p class="abstext...

Background: Cell-mediated initiation of enchondral ossification is essential for growth plate maturation. The matrix mineralization inhibitors matrix Gla protein (MGP) and osteocalcin (OC) represent key regulators of matrix mineralization and are highly expressed in growth plate chondrocytes. Pharmacological or nutritional phylloquinone (K1) depletion is known to affect skeletal mineralization by reduced gamma-carboxilisation of MGP and OC. Constituents of mineral matrix such ...