ESPE Abstracts

Background: Almost all diabetic patients eventually develop skin complications from the long-term effects of diabetes mellitus. Cutaneous manifestations generally appear subsequent to the development of diabetes but may be the first presenting sign, or even precede the diagnosis.Objective and hypotheses: To detect the prevalence and spectrum of skin manifestations in type 1 diabetic (T1D) patients attending the Diabetes Endocrine and Metabolism Pediatric...

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 ...

Sclerosteosis is a rare autosomal recessive disorder characterized by progressive skeletal overgrowth and increased bone density. Loss of function mutations of SOST gene, coding for sclerostin, are linked to sclerosteosis. Sclerostin plays a critical role inhibiting osteoblastic activity and preventing excessive bone formation by antagonizing the Wnt signaling pathway. Sclerosteosis patients are often tall and have excessive body weight due to high skeletal weight. To...

Background: Short stature is the most common clinical feature in patients with Turner syndrome (TS). The relation of different karyotyping to growth hormone (GH) level in provocation tests or to the response to GH therapy is debatable.Aim: to study the impact of different karyotypes on the GH level in provocation tests and on the response to GH therapy among a cohort of Egyptian girls with TS.<stro...

Keywords: Benfotiamine, Bioavailability, Thiamine, Diabetic Peripheral Neuropathy Abbreviations: Adverse Event (AE), Advanced Glycation End products (AGE), Analysis of Variance (ANOVA), Alanine Transaminase (ALT), Body Mass Index (BMI), Case Report Form (CRF), Diabetic Neuropathic Symptom score (DNSS), Diacylglycerol (DAG), Dipeptidyl Peptidase 4 Inhibitor (DPP-4 I), Good Clinical Practice (GCP), Informed Consent Form (ICF), Intent to Treat (ITT), Institutiona...

Background: The prevalence of obesity in children and adolescents has increased significantly worldwide with an alarming rise of its co-morbidities. The excess of visceral adipose tissue is associated with hypertension, prothrombotic and pro-inflammatory states leading to cardiovascular diseases.Aim of the study: To find possible associations between visceral obesity and plasma fibrinogen, as one of the cardiovascular risk factors, in obese children....

Background: Advances in the treatment of childhood and adolescence cancer treatment have led to significant increase in survival rate. Current 5-survival rate of childhood cancer is nearly 80%. Hematopoietic stem cell transplant (HSCT) is treatment of choice in many clinical conditions including malignant and non-malignant hematological diseases, solid tumors and immunodeficiency diseases. Children receiving HSCT are prepared with different pre-transplant cond...

Background: Patients with disorders of sex development (DSD) require multidisciplinary team management for etiology identification and gender assignment. Identification of mullerian structures is an important part of the evaluation process. Ultrasonography remains the first-line imaging modality to delineate mullerian structures; while the importance of magnetic resonance imaging (MRI) is insufficiently studied.Objective and hypotheses: To evaluate the d...

Background: Diabetes is the third commonest chronic disease of childhood. When a child or an adolescent is diagnosed with type 1 diabetes (T1D), adaptation to a new life is usually a challenge for the whole family. There are specific challenges posed by T1D on the affected children, and their families, at different developmental age groups. The correlation between HbA1c and age specific psychological challenges, to our knowledge, has not been previously explored in the Middle ...