ESPE Abstracts

Background: New-onset diabetes in youth can classically fall into three categories: type 1 diabetes (T1D), type 2 diabetes (T2D), or monogenic diabetes (MD). This classification is based on the underlying disease mechanisms, dictates treatment, and predicts outcome. Type B insulin resistance syndrome (TBIR) and ketosis-prone diabetes (KPD) are described in the African population, but their incidence in the pediatric population is very low.<p class="abstext...

Objectives: To present Chung-Jansen Syndrome or CHUJANS by a de novo variant in the pleckstrin homology domain-interacting protein (PHIP) gene and compare the clinical phenotype with previous case reports; ②To provide a novel genetic detection methods with whole-exome sequencing(WES) and whole genome sequencing(WGS) and Sanger sequencing for rare genetic diseases.Patients and methods: Following collecting clinical...

Background: Endocrine disorders associated with tall stature in childhood are frequently evaluated by Pediatric Endocrinologists. The most common non-endocrine genetic cause of tall stature, Marfan syndrome, is a rare autosomal dominant genetic condition of the connective tissue, which presents with specific dysmorphic features, including thin physique, long extremities and normal growth rate. Little is known regarding the association of Marfan syndrome with o...

Obesity—defined as excess fat mass which impacts on physical health—is a complex and multifactorial disease where numerous environmental factors (overeating and/or reduced physical activity) act in concert with genetic factors. Understanding molecular mechanisms of obesity has rapidly improved in recent years due to the development of faster, more specific genetic screening tools (1). Rare genetic obesities are distinguished from more-common polygenic obesities where...

Childhood onset of growth hormone deficiency (GHD) is a clinically heterogeneous condition and defining its cause is important for diagnostics and treatment. The most common genes implicated in the genetic etiology of growth hormone deficiency (GHD) are GH1 (MIM: 139250), encoding growth hormone (GH), and GHRHR (MIM: 139191), encoding the receptor for GHRH. GHD may also result from mutations in genes that encode transcription factors involved in pituitary dev...

Background: A broad spectrum of human diseases, including abnormalities in steroidogenesis, are caused by mutations in the NADPH cytochrome P450 oxidoreductase (POR) (1-2). Cytochrome P450 proteins perform several reactions, including metabolism of steroids, drugs and other xenobiotics. Therefore, genetic variations in POR can impact many different metabolic pathways by changing the activities of cytochromes P450 (1). In 2004 the first human patients with defe...

Background: Simultaneous pancreas kidney transplantation (SPKT) is a standard treatment option for young adults with type I diabetes (T1D) and concurrent renal failure. Despite the long-term immunosuppressive therapy the patients have better glycemic control, normalized renal function and an improved quality of life. Whether this is also reflected in the skeleton is not that clear yet.Methods: Patients were prospectively...

Objectives: We describe 5 pedigrees with a novel phenotype including GHD associated with primary ovarian insufficiency (POI) and investigate the underlying molecular basis.Patients and Methods: 6 Turkish patients (5F, 1M) born to 5 consanguineous pedigrees with severe GHD were identified. All females had POI; the male had normal puberty. All had severe postnatal growth retardation (height -4.4 to -8.9 SDS at presentation...

Objective: To establish INS-1 cell iron overload model, and study the effect on iron overload, proliferation, insulin secretion, mitochondria defect and oxidative stress change.Methods: INS-1 cells were cultured with different concentrations (0 as control and 5, 10, 20, 40, 80,160,320µmol/L respectively) of ferric ammonium citrate (FAC). Labile iron pool (LIP) were calculated by detecting calcein-AM fluorescence ...

Background: In type 1 diabetes (T1D), optimal glycaemic control requires intensive self-management to reduce the risk of complications. While routine downloading and review of blood glucose data is part of clinical practice of healthcare providers in an outpatient setting, patients and families are also educated, advised and encouraged to regularly download and review blood glucose data at home in order to make adjustments to insulin dosing for carbohydrate in...