ESPE Abstracts

Objectives: This retrospective and descriptive study aim to study the frequency of children who have a pubertal delay and who are followed at the Department of Pediatrics II at the Children’s Hospital of Rabat. Materials and Methods: Among 1850 records collected, 24 patient records that meet the criteria for inclusion. A delay in the appearance of sexual characters: the lack of breast development after the age of 13.5 years in the girl and the lack of inc...

Introduction: Marfan syndrome is an autosomal dominant disorder due to a mutation of the FBN1 gene of chromosome 15 that produces fibrillin, a connective tissue protein. Tall stature can be of a major concern especially in a girl patient. Here we discuss a case of a 13-year-old girl with MFS with tall stature and multiple associated comorbidities that pose challenges in her management for the whole family.Case Report: A ...

Introduction: Blood transfusion and iron chelation are conventional treatments for β-thalassemia (BTM). Malnutrition affects the growth, efficacy of treatments, and quality of life in children suffering from BTM.Objective: To evaluate the prevalence of malnutrition (BMI < 3rd centile for age and sex) or BMISDS < -2 in 10 Mediterranean and Middle east countries and the USA in the past 20 years.  <p c...

Introduction: 11-Beta-hydroxylase deficiency (CYP11B1) is the second most common cause of Congenital Adrenal Hyperplasia (CAH). Although the relative frequency of 11-OHD is reported as 3-5% of the cases of CAH, these numbers may have been somewhat underestimated.(1,2) The resultant clinical picture in 11-OHD is similar to that of 21-OHD, except for the variable presence of hypertension and hypokalemia due to DOC excess.(2,3)Aim o...

Disorders of sex development (DSDs)represent a diverse group of clinical conditions which have a very wide phenotypic spectrum associated with a complicated molecular background.Such conditions are considered among the most common birth defects andare frequently associated with congenital abnormalities.Herein we present 62 patients with DSD associated with somatic anomalies. Patients were selected from clinical genetics dept., NRC. They underwent complet...

Background: Electrophysiological techniques allowed identification of sub-clinical pathological changes and early diagnosis of diabetic peripheral neuropathy (PN). Neopterin is a marker of inflammation and cellular immune response that is elevated in conditions of T-cell or macrophages activation. Diabetic peripheral neuropathy (PN) is associated with inflammatory/immune processes and therefore, we hypothesized that neopterin could be used as a marker of neuropathy in type 1 d...

Background: Diabetic nephropathy (DN) is a major microvascular complica-tion of type 1 diabetes mellitus (T1DM). Homocysteine levels have been found elevated in T1DM patients with DN due to several causes, including dietary deficiencies of folic acid and B Vitamins. Hyperhomocysteinemia induces renal injury and is associated with increasing urinary albumin excretion in patients with diabetes. We therefore performed a randomized-controlled trial of oral supplem...

Background: Obesity is associated with metabolic abnormalities, which result in progression to insulin resistance and the metabolic syndrome. The underlying stimulus for these metabolic abnormalities in obesity is not clear, however, recent evidence suggests that systemic, low-level elevations of gut-derived endotoxin (lipopolysaccharide) may play a role in obesity-related metabolic abnormalities.Objective: To study the metabolic endotoxemia in obese chi...

Introduction: Rubenstein-Taybi Syndrome (RSTS)is a rare multiple congenital anomaly syndrome with a prevalence of 1:100,000 to 1:125,000. It is classically characterized by postnatal growth deficiency, microcephaly, learning difficulties, increased risk of tumour formation, broad thumbs and halluces and dysmorphic facial features including highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose, high arched palate and characteri...

Background: Early diffuse hyperinsulinism represents a life- and brain-threatening condition. Besides enteral or parenteral additional supply, diazoxide represents the first line treatment. For diazoxide-resistant (DREDHI) patients, ablative surgery exposes to severe local complications, exocrine pancreas insufficiency and diabetes or residual hypoglycaemia.Objective and hypotheses: To evaluate the pros and cons of non-surgical treatment of DREDHI.<p...