ESPE Abstracts

Background: Vascular endothelial growth factor (VEGF) is a signal protein produced by cells that stimulates vasculogenesis and angiogenesis. It is part of the system that restores the oxygen supply to tissues when blood circulation is inadequate. Serum concentration of VEGF is high in bronchial asthma and diabetes mellitus. Overexpression of VEGF can cause vascular disease in the retina of the eye and other parts of the body.Objective and hypotheses: The...

Background: The cardinal feature of the resistance to thyroid hormone (RTH) is reduced responsiveness of target tissues to thyroid hormone action caused by thyroid hormone receptor β gene (THRB) mutations impairing hormone binding in the majority (90%) of cases. It results in elevated serum levels of free thyroxine (FT4) and triiodothyronine (FT3) associated with unsuppressed thyroid SH.Objective and hypotheses: The ai...

Background: Polycystic ovary morphology (PCOM) in USG should not be identified with polycystic ovary syndrome (PCOS) and it is not a criterion for diagnosis of this syndrome in adolescents.Objective and hypotheses: Assessment of the usability of 3D ultrasonography in diagnostics of androgen excess disorders.Method: 40 girls aged 14–18 with hyperandrogenism were subjected to endocrinological examinations and transrectal USG of ...

Introduction: Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease. In 2016, nusinersen (Spinraza) was approved by the FDA. The first AAV9-based gene therapy (Zolgensma), was approved by the FDA (2019) for the treatment of infants with SMA. We report an SMA case with recurrent hypoglycemic events after gene therapy.Case Report: A 22 months old boy, with SMA type 1 was born at term by CS for fetal bradycardia....

Introduction: Currently, the incidence of diabetes in children is increasing and may coexist with growth hormone deficiency. In diabetic patients, there are many mechanisms which disrupt the growth process and affect the GH/IGF-1 axis. However, with properly controlled diabetes, patients achieve normal height and should be diagnosed for causes of short stature other than diabetes. There are few reports on the safety and effects of the use of recombinant human ...

Context: The response to lifestyle modification (LSM) in children with obesity is variable and difficult to predict.Aim: A systematic search for identifying common single nucleotide polymorphisms (SNPs) to predict positive outcomes of LSM in pediatric obesity management, defined as decrease in BMI z-score (based on IOTF).Patients/Methods: Out of 240 children with obesity (BMI>97...

Background and Objectives: In recent years, a growing number of studies investigated the profile of serum metabolomics in health and disease. These studies have led to the discovery of novel biological biomarkers and causative agents for a variety of medical conditions. Here, we focused on profiling serum metabolites of children diagnosed with growth hormone deficiency (GHD).Methods: We conducted a prospective study and ...

Introduction: Sexual disorders 46 XY are responsible for a range of phenotypic disorders; from an ambiguous phenotype to a complete female phenotype. This is often a sporadic condition. In this context, we report 5 cases of gonadal dysgenesis, 46 XY belonging to the same family and particular phenotypic expression. this particular phenotype arise a question about the link between familial sexual differenciation disorders and the panel of genes involved in sexu...

Introduction: Leydig cell hypoplasia (LCH) or agenesis, is an autosomal recessive condition and a well-defined form of 46,XY disorder of sex development (DSD) resulting from inadequate foetal testicular Leydig cell differentiation.Inactivating mutations in the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) gene account for the underlying LCH pathogenicityCase report: We studied a 15-ye...

Background: Patients with NNT (Nicotinamide Nucleotide Transhydrogenase) gene mutations, a rare cause of glucocorticoid and mineralocorticoid deficiency. Adrenal Rest Tumor (ART) in females, reported so far only in noncompliant patients with congenital adrenal hyperplasia and elevated ACTH levels, is very rare (<20 cases world-wide). This study characterizes the pathophysiology, the molecular ontogeny and methylation analysis of a unique ART in a female wit...