ESPE Abstracts

Background: Androgen receptor (AR) gene mutations are the most frequent cause of 46,XY disorders of sex development and are associated with a variety of phenotypes, ranging from phenotypic women (complete androgen insensitivity syndrome) to milder degrees of undervirilization (partial and mild forms).Aims and objectives: To specify how a phenotype-genotype correlation can be refined by in vitro study based on the nature of amino acid substitutio...

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: 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...

Celiac disease (CD) is an intestinal chronic inflammatory and autoimmune disease that develops as a result of interplay between genetic, immunologic, and environmental factors. Many patients, who are referred for evaluation for short stature, show initially no identifiable abnormalities and labeled as having idiopathic short stature (ISS). Children with growth hormone deficiency may show poor response to growth hormone (GH) replacement therapy. In both conditions, this may be ...

Background: Numerous studies have evaluated the beneficial effects of omega-3 fatty acids on inflammatory, autoimmune and renal diseases. However, data about the effects of omega-3 fatty acids on diabetic kidney disease in type 1 diabetes mellitus (T1DM) are lacking.Objectives: This randomized-controlled trial assessed the effect of oral omega-3 supplementation on glycemic control, lipid profile, albuminuria level, kidne...