ESPE Abstracts

Background: The relationship of pre-treatment gene expression (GE) to long-term growth response in GHD is unknown. Prediction of long-term response to r-hGH therapy would allow better decision making about start and maintenance doses and hence cost:benefit.Objective and hypotheses: To assess the relationship of baseline GE to response to r-hGH over 5 years of therapy in GHD children.Method: Pre-pubertal children with GHD (n</em...

Background: Aluetta® Smartdot™ (Merck Healthcare KGaA, Darmstadt, Germany) is first of its kind digitally connected smart injection pen device for recombinant-human growth hormone (r-hGH) administration. Aluetta® pen with Smartdot™ knob attachment integrated with Growzen™ digital ecosystem enables healthcare professionals (HCPs) to remotely monitor adherence and achieve optimal clinical outcomes for patients....

Introduction: The Sonic Hedgehog (SHH) gene is involved in the development of midline structures. Pathogenic variantd in this gene have been associated to holoprosencenphaly 3; Microphthalmia with coloboma 5; Schizencephaly; and Single median maxillary central incisor syndrome (SMMCIS). All of them are inherited in an autosomal dominant pattern and exhibit incomplete penetrance as well as variable expressivity.Case Report:</stron...

Background: Response to rhGH treatment is extremely variable in pediatric growth disorders; predictors of the response are not yet clearly determined, due to disomogeneity of studied cohorts.Aims and objectives: To investigate the correlation between clinical parameters and height gain after the 1st year of rhGH treatment and at the last visit in eight different aetiologies of short stature, with the aim of identifying predictors of response to rhGH trea...

Introduction: Bone fragility or predisposition to fractures with low-impact energy is a rare but potentially limiting condition. Variations in PLS3 gene are a cause of monogenic osteoporosis due to the alteration of osteoclast and osteocyte function and bone mineralization. It is characterized by early-onset osteoporosis, peripheral fractures, vertebral compression fractures and thoracic kyphosis. Due to its X-linked inheritance, the phenotype is more severe i...

Background: The 5α-reductase-2 (5R2) deficiency is a rare 46, XY disorder of sex differentiation caused by mutations in the 5R2 gene. Diagnostic and clinical management is not well definite.Aims and objectives: To describe relevant features of 5R2 deficiency in a large sample.Methods: Retrospective records of persons with 5R2 deficiency were reviewed and clinical, endocrinological, genetic data analysed....

Background: Ambulatory blood pressure monitoring (ABPM) permits the observation of blood pressure (BP) in a nonmedical environment. In adults, ABPM is better related to renal damage and cardiovascular morbidity than office BP readings. In early stages of type 1 diabetes (T1DM), the role of ABPM is still controversial.Objective and hypotheses: To detect blood pressure abnormalities using 24-h ABPM in children and adolescents with T1DM and to determine the...

Background: Cardiovascular diseases are most relevant for morbidity and mortality in obese patients. Because metabolic complications already start in childhood obesity one may expect an early manifestation of cardiovascular disease in this group as young adults. In adults fetuin A was shown to promote adipocyte inflammation and metabolic syndrome and subsequently vascular damage.Objective and hypotheses: We evaluated the role of fetuin A in the vascular ...

Background: The DNA-binding High Mobility Group Box-1 (HMGB1) is an intracellular gene regulator that can be secreted also in response to inflammatory mediators, including interleukins, binding subsequently to both RAGE and Toll-like receptors forming a self-reinforcing inflammatory circle. Cystic fibrosis (CF) is a condition characterized by chronic inflammation. Elevated serum HMGB1 concentrations were described in serum of obese children and to be associated with the metabo...

Cushing’s disease (CD) is rare entity especially in pediatric patients. It is associated with significant morbidity. Early diagnosis and treatment is important for optimal outcome.Aim: To evaluate the clinical, biochemical, pathology, treatments and outcome in a cohort of CD pediatrics patients in a single tertiary center.Subjects and Methods: Retrospective review of 27 medical records of CD ...