ESPE Abstracts

Background: Ovotesticular disorder of sex development (OT- DSD) is a very rare disorder characterized by the presence of both ovarian and testicular tissue in the same individual. It has an approximate incidence of less than 1/20 000.The patients usually present with ambiguous genitalia and the majority show a 46,XX karyotype, with absence of the SRY sequence.Objective and hypotheses: The study reports the cytogenetic variability and gonadal histological...

Background: Anti-Mullerian hormone (AMH) is produced by Sertoli cells and signals through two transmembrane receptors (AMHR), specific type II and type I, leading to regression of Mullerian ducts (uterus and fallobian tubes) during fetal male sex differentiation. Mutations of AMH and AMHR-II genes lead to persistence of Mullerian ducts in males. These conditions are transmitted in a recessive autosomal pattern and are symptomatic in 46,XY phenotypic males.<p class="abstext...

Background: Vitamin D deficiency may be associated with increased risk of metabolic syndrome.Objective and hypotheses: We aimed to assess the relation between 25-hydroxyvitamin D (25(OH) D) with the different metabolic syndrome components in overweight and obese subjects.Method: Ninety eight subjects (≥85th percentile for age and sex) recruited from the Diabetes, Endocrine & Metabolic Paediatrics Unit (DEMPU), Cairo Unive...

Background: Growth Hormone (GH) therapy has a positive effect on many parameters including metabolic and physiologic functions as well as its effect on growth. It has also been shown that GH therapy exerts a significant effect on cardiac morphology and function as evidenced by echocardiographic findings.Aim: To investigate left and right ventricle (LV, RV) diastolic function by Tissue Doppler imaging (TDI) in pre-pubertal growth hormone deficient (GHD) c...

Background: Controversial data on ghrelin and leptin concentrations in patients with growth hormone deficiency (GHD) have been published. Little has addressed the correlation between Ghrelin and leptin with cardiac functions in patients with GHD.Aim: To investigate the effect of one year Growth hormone (GH) therapy on serum levels of ghrelin and leptin in children with GHD and to study their correlations with cardiac functions and dimensions in patients ...

Background: Children with congenital adrenal hyperplasia (CAH) may suffer from multiple psychological troubles.Objective and hypotheses: To assess the psychological and behavioral outcome of genetically females with classic CAH and to study the extent to which these behavioral changes could be attributed to high levels of androgens in the prenatal and postnatal periods.Method: 51 genetically females with CAH, representing Prader st...

Background: Sleep quality, ghrelin hormone and obesity are associated with metabolic syndrome.Objective and hypotheses: To study associations between sleep duration, level of ghrelin and obesity in children and adolescents.Method: A prospective study was conducted on 50 children (their mean age: 8.7±3.2 years) with simple exogenous obesity (BMI SDS >2) recruited from Diabetes Endocrine and Metabolism Pediatric Unit, Childr...

Background: Autoimmune polyglandular syndrome type 3 (APS3) comprises a wide spectrum of autoimmune endocrine disorders other than adrenal insufficiency. It includes the association of autoimmune thyroid disease (ATD) with type 1 diabetes (T1D) which is known as APS3 variant (APSA3v). Genes linked to possible joint susceptibility for APS3v have been reported in few cases. We report a 10-year-old girl with Graves’ disease (GD) who developed T1D after 6 years of the diagnos...

Background: Continuous glucose monitoring (CGM) systems are an emerging technology that allows frequent glucose monitoring in real time.Objective and hypotheses: To assess the value of using CGM system (Medtronic) versus oral glucose tolerance (OGT) and HbA1c in the diagnosis of glycemic abnormalities (Prediabetes) in high-risk groups.Methods: We performed OGT and monitored glucose for 72 h using CGMS combined with four to five tim...

Background: Hyperthyroidism is considered to be rare in children; it’s clinical profile is different and the most cause is Grave’s disease (GD).Objective and hypotheses: To evaluate clinical features and evolution of childhood hyperthyroidism.Method: Longitudinal retrospective study of patients diagnosed with hyperthyroidism.Results: 8 cases were identified between 2006 and 2013: 6F/2M, the patient&...