ESPE Abstracts

Background: Permanent neonatal diabetes mellitus (PNDM) is a persistent hyperglycaemia diagnosed within the first 6 months of life. A correct genetic diagnosis can affect treatment and clinical outcome. Clinical manifestations at the time of diagnosis include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration and failure to thrive. Insulin production is inadequate, requiring exogenous insulin therapy. The treatment corrects the hyp...

Introduction: PCSK1/3 gene mutations are known as a cause for congenital diarrhea and various endocrinopathies. Hypogonadotrophic hypogonadism and aberrant pubertal development due to pro-convertase dysfunction was not characterized yet. This study aimed to characterize the pubertal development in a family carrying the novel N309K mutation in the PCSK1 gene.Methods and Results: We Identified 2 siblings who presented with severe congenital diarrhea follow...

Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation characterized by the presence of both testicular and ovarian tissues in the gonads of the same individual. Patients usually present at birth with ambiguous genitalia, and the majority showed a 46,XX karyotype, with absence of the SRY sequence. In this study we reported on nine patients with OT-DSD, who were referred to the Human Genetics and endocrinology Clinics, division ...

Background: Diabetic ketoacidosis (DKA) is an acute complication of type 1 diabetes mellitus (T1DM) that can be fatal if not properly managed. DKA is a leading cause of mortality in these children, early recognition and prompt treatment should substantially reduce childhood mortality in children with T1DM.Objective and hypotheses: We aimed to identify the risk factors and the most common clinical features of newly diagnosed diabetes in children, in addit...

Background: Sex chromosome DSD constitute an important category in the definition of DSD.Objective and hypotheses: The study included 379 patients comprising a wide spectrum of presenting features, associated with different arrays of chromosomal abnormalities aiming at. Studying the prevalence of Sex chromosomal abnormalities among DSD patients.Method: Patients were subjected to detailed clinical examination, pubertal staging, cyto...

Background: Ghrelin is a somatotropic and orexigenic protein secreted primarily from stomach.Objective and hypotheses: Since both GH secretion and nutrition, two fundamental contributors in growth promotion, are enhanced by ghrelin, the aim of this study was to investigate the relationship of ghrelin hormone with growth retardation in 3- to 16-year-old children and adolescents and determine whether ghrelin levels are different between normal subjects and...

Background: Most organs including bone are affected in type 2 Diabetes (T1D) mechanisms. The exact mechanism of bone derangement is still unknown.Aim of work: i) Assessment of Pyridinoline crosslinks as a bone resorption marker and alkaline phosphatase as a bone formation marker in T1D in children & adolescents. ii) To determine the effect of glycemic control and disease duration on bone turnover.Subjects and methods: 39 T1D pa...

Background: Diabetes as a disease and its treatment can have a profound effect on the quality of life (QoL) in terms of social and psychological well-being as well as physical ill health. Current goals of diabetes management focus on optimising metabolic control, along with preserving a good QoL.Aims and objectives: To assess QoL in adolescents with type 1 diabetes (T1D) at the Diabetes Endocrine and Metabolism Pediatric Unit at Cairo University.<p c...

Background: Persistent Müllerian duct syndrome (PMDS) is a relatively rare autosomal recessive disorder of sex development (DSD), characterized by the presence of Müllerian duct derivatives in 46,XY phenotypic males. PMDS is due to mutations in the AMH gene or its type II receptor gene AMHR2. To date; more than 50 different mutations of the anti-Müllerian hormone (AMH) gene have been reported.Case report: Here, we report a novel mutation o...

Objective: To evaluate the endocrine function among Egyptian adolescent thalassemic patients.Patients and methods: 54 patients and 28 age-matched normal controls was included. Anthropometric measurements, clinical pubertal assessment were done for all patients. Oral glucose tolerance test (OGTT) was done to all patients and controls with measuring serum insulin level at 0.120 minutes. Insulin sensitivity and release index were calculated. 32 patients had...