ESPE Abstracts

Growth Hormone deficiency (GHD) in newborn is an infrequent condition, which can cause threat to life due mainly to hypoglycemia that begins in the first week of life. A GH basal level (whether random or associated with spontaneous hypoglycemia) that distinguishes infants with GHD from those with GH sufficiency in the neonatal period is not conclusive. Few data have been reported about the GH measurements in serum and dried blood spots on filter paper samples in healthy neonat...

Background: Prediction models demonstrate potential in predicting growth in patients receiving recombinant human growth hormone (r-hGH) for growth disorders. However, considerable information from patients is needed to calculate a predicted growth curve. The curve matching technique only requires height data. This technique identifies growth curves that are similar (matched) among real-world patients within a database. The growth curves of these ‘matched...

Objective: To identify genetic mutations of a pedigree affected by severe short stature in Chinese populations for the first time.Methods: Auxological and endocrinological profiles were measured. Targeted next-generation sequencing (NGS) analyses comprising 277 shorted stature-associated candidate genes and 19 related copy number variation (CNV) regions were used to identify gene mutations in the proband. Three web-based software programs (SIFT, PolyPhen...

Background: Accumulated evidence indicates that the GH-IGF-1 pathway might be one of the crucial mechanisms of ISS. Insulin-like growth factor-1 receptor (IGF-1R) is the effector molecule that regulates the cascade reaction of hormone receptors in the GH–IGF-1 axis.Objective and hypotheses: To investigate the role of IGF-1R gene polymorphisms with regard to susceptibility to Idiopathic short stature risk in the Chinese population of Jiangxi area.</p...

Background: The diagnosis of GH deficiency in children is based on clinical, auxological, radiographic and biochemical criteria which include response to Pharmacological Estimulation Tests (PhT). It is well known that GH concentrations vary according to the assay method used. Currently in our population, the proposed cut-off value of serum GH PhT is 4.7 ng/ml measured by ICMA using the IRP 98/574.Objective and hypotheses: The aims of this study were to d...

Background: A growth prediction model would not only allow patients with growth disorders the opportunity to see the expected effect of their recombinant human growth hormone (r hGH) treatment, but also support healthcare professionals to individualise treatment to optimise growth outcomes.Aim: To develop a growth prediction model in children with growth disorders.Patients and Methods: Height and c...

Background: Treatment for growth disorders requires daily injections of recombinant human growth hormone (r-hGH) over multiple years, and automated devices may help in this regard. The ability to adjust injection device settings, which are pre-set as default unless changed by healthcare professionals, may improve patient comfort and needle anxiety and thereby improve adherence.Aim: To study the association between inject...

Introduction: non-insulin-dependent diabetes mellitus (type II) is an increasing problem in childhood. With the advancement of genetic testing and genome-wide association studies, mutations in genes causing loss or dysfunction of the pancreatic cell have been associated with type II diabetes. A heterozygous mutation of the MAPK8IP1 (Mitogen-activated protein kinase 8 interacting protein 1) gene is associated with a rare form of diabetes with few cases reported...

Introduction: Turner syndrome (TS), sometimes referred as congenital ovarian dysgenesis syndrome, is a genetic disorder that results when one of the X chromosomes (sex chromosomes) is missing (monosomic) or partially absent (mosaicism). It can cause a variety of medical and developmental problems, including short height. It is one of the most common syndromes that is included in the list of diseases treated with rhGH during the last 22 years in Albania. This s...

Introduction: Multiple endocrine neoplasia type 1 is an autosomal illness dominant caused by mutations in the gene menina (MEN1) with high penetrance, characterized by neoplasia parathyroid glands, anterior pituitary, endocrine pancreas and duodenum. Although it has been associated with other types of cancer like breast cancer.Methods and materials: Clinical analysis, mutational and sequencing report Sanger from gene MEN...