ESPE Abstracts

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: Type 1 DM (T1DM) is a chronic condition characterized by persistent hyperglycemia; which can impair immunity and increase susceptibility to infections. Latent TB infection (LTBI) is a subclinical infection caused by Myobactaeria tuberculosis antigens without clinical, bacteriological or radiological evidence of manifest TB disease. Tuberculin test (TST) is an inexpensive test used to identify LTBI status, but has limitations. False positive TST can...

Background: Some studies suggested a correlation between vitamin D (VD) and the GH-IGF1 but few studies, and with controversial results, have prospectively analysed the vitamin D status in children before and after GH treatment.Objective and hypothesis: To assess VD status in pre-pubertal children with idiopathic GH deficiency (GHD); and to evaluate effect of GHD and GH treatment on VD levels.Methods: 50 pre-pubertal children with ...

Background: Diabetes mellitus is the second most common chronic disease of childhood. It requires appropriate management and follow up to reduce the complications. Type 1 diabetes mellitus (T1DM) is the most common type of diabetes that affects children. Most of the developed countries launched registries. In Iraq, there is no access to statistics or national report about the provided service. Rather, there is no standardization of the practice.<p class="a...

Background: Mutations in CYP19A1 gene have been described in both females and males and to date only 20 cases with aromatase deficiency have been reported. In newborns, aromatase deficiency should be considered in the aetiology of 46, XX DSD, after ruling out congenital adrenal hyperplasia.Objective and hypotheses: Report of a case with CYP19A1 mutation.Method: Here we report a patient who was presenting at the age of 20 years old ...

Background: Van Wyc-Grumbach syndrome is a rare presentation of long standing pre-pubertal hypothyroidism characterized by bilateral multicystic ovaries, vaginal bleeding and delayed skeletal growth in case of female.Case Presentation: we present a clinical course, diagnosis and management of a case of Van Wyc-Grumbach syndrome in a 10-years old Egyptian counselled for recurrent vaginal bleeding and pubertal advancement for age. She was ...

Background: Type 1 diabetes mellitus (T1DM) - related hepatopathy is not uncommon and tends to be more prevalent among children with poor glycemic control. Recent studies suggest that fatty liver disease may be more common in T1DM than previously thought.Aim: The aim of this work was to determine the frequency of hepatopathy in patients with type 1 diabetes mellitus attended diabetes clinic at Alexandria university children’s hospital (AUCH) and it&...

Background: It was suggested that vitamin D has both direct and indirect effects on modifying the lipid profile in patients with diabetes through its regulatory action that increases the activity of lipoprotein lipase in adiposity.Objective and hypotheses: To detect the relationship between serum 25(OH) D and lipid profiles in patients with T1D and dyslipidemia and to study the effect of vitamin D supplementation on lipid profiles of vitamin D deficient ...

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: 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...