ESPE Abstracts

Background: In contrast to hypoglycaemia due to congenital hyperinsulinism, there are patients with a similar metabolic profile of hypoketotic hypoglycaemia, but low insulin levels and relatively low glucose requirements to maintain euglycaemia. So far, four patients with activating mutations in the insulin signal-transducing kinase AKT2 have been described, each also showing a syndromic phenotype including hemihypertrophy.Objective and hypotheses: We pr...

Background: Although the clinical presentations of congenital adrenal hyperplasia (CAH) have been studied in Saudi children, the literature review revealed no molecular report of 21-hydroxylase was published.Objective and hypotheses: The aim of this study was to determine the pattern of CYP21A2 gene-mutations of CAH in Saudi children.Method: Between January 2011 and March 2014 at King Fahad Military Complex, Dhahran, Saudi Arabia, ...

Objective: To determine the influence of adolescent girls with type 1 DM on circulating levels of adiponectin and to study the relation between adiponectin level with glycemic control and complication of diabetes.Patients and methods: The study included 40 female adolescent type 1 diabetic patients and 40 healthy volunteer of the same age and sex. Blood sample was taken for assessment of glycosylated haemoglobin, lipid profile and adiponectine. Urine sam...

Introduction: Resistance to thyroid hormones is defined as lack of response of peripheral tissues to triiodothyronine (T3) which is the active form of thyroid hormones. In general (85%) a mutation is detected in the thyroid hormone receptor β (THRB) gene and more rarely, the thyroid hormone receptor α (TRHA) gene.Case: A 4.7-year-old boy, was admitted to the pediatric endocrinology outpatient clinic of Akdeniz...

Background: Brain abnormalities like cerebral midline malformations (CMM) can be detected by fetal sonography. CMM with neonatal hypopituitarism may cause severe hypoglycemia.Case presentation: We report about three cases of term eutrophic newborns, which all presented with severe neonatal hypoglycemia despite prenatally diagnosed CMM. All three patients were born vaginally and were immediately breastfed after normal postnatal adaptation. In the first ca...

Objective: This feasibility study aimed to investigate the anabolic effect of insulin on metabolites captured in exhaled breath during acute diabetic ketoacidosis (DKA) for a better pathophysiological understanding.Research Design and Methods: Children and adolescents with type 1 diabetes (T1D) with DKA (n=5) and without DKA (n=7) and children with epilepsy without ketogenic diet (n=18) were re...

Background: Subtle phenotypic differences have previously been described among children with varied genetic subtypes of Prader-Willi syndrome (PWS) – 15q11-q13 paternal microdeletion, maternal uniparental disomy (mUPD), and rare imprinting center defects. The MKRN3 gene, located on 15q11.2, is a master regulator of pubertal initiation and is a candidate gene for abnormal pubertal development in PWS.Objective and hy...

Background: Congenital adrenal hyperplasia (CAH) arises from mutations in CYP21A2 gene, which encodes for the steroidogenic enzyme 21-hydroxylase. Currently employed chorionic villus sampling and amniocentesis provide genetic results at ~14 weeks of gestation at the earliest. At this time, the genitalia of the affected female foetuses have already become virilized. To prevent genital ambiguity, prenatal treatment with dexamethasone must begin on or before gestational ...

Introduction: The mechanisms underlying short stature in Noonan Syndrome (NS) are poorly understood and may include inadequate GH secretion or action, decreased IGF-1 production, growth plate dysfunction, or other factors. In this retrospective study, we aimed to evaluate the function of the GH-IGF-1 axis in NS.Method: We took all patients with genetically proven Noonan syndrome among 1001 children and adolescents curren...

Background: Follicle-stimulating hormone (FSH) plays a key role in reproduction. The G-protein coupled FSH receptor (FSHR), is expressed primarily in gonads, and specifically binds FSH. FSHR is also expressed in vascular endothelium, osteoclasts, adipose tissue, monocytes and rodent pancreatic islets. Elevated FSH levels are associated with development of obesity, insulin resistance, osteoporosis, and cardiovascular disease. In a recent study, we showed that h...