ESPE Abstracts

Background: Isolated ACTH deficiency is a very rare condition, there is only seven cases in the literature reported after infancy and the cause is still unknown.Case study: We are reporting 11.5 years old Qatari boy who was known to have G6PD deficiency only and who presented with generalised tonic colonic seizure at the day of admission with history of fever, ear pain and discharge fatigue and excessive sleep, and vomiting for 4 days. He had fever (39C)...

Background: Ellis van Creveld syndrome (EVC) (chondroectodermal dysplasia) is a rare, multisystem disorder. It probably affects only around 1 in every 150,000 individuals. It is characterized by a long, narrow trunk and shortened arms and legs; extra fingers (postaxial polydactyly), and abnormalities of the oral region and teeth. In infants, non-bony manifestations, particularly congenital heart defects, may be health or life-threatening.Case presentatio...

Introduction: Idiopathic short stature (ISS) describes short children with normal GH secretion. There is a lot of controversy about the outcome of treating ISS children with GH. Exceptional fast growth in response to GH therapy in these children enable scientist to delineate the different etiologies behind this broad term of ISSCase report: We are reporting two children aged 5 years and 9 years diagnosed with ISS. They presented with short stature with n...

Chromosomal microdeletions and microduplications have been associated with syndromic forms of intellectual disability (ID). The Xq28 duplication syndrome is an X-linked intellectual disability syndrome characterized by variable degrees of cognitive impairment (typically more severe in males), a wide spectrum of neurobehavioral abnormalities, and variable facial dysmorphic features. All males reported to date with the syndrome have a moderate-to-severe intellectual disability. ...

Familial clustering of type-2 diabetes is well-known. In adults, the prevalence of diabetes is higher among patients with diabetic parents. The Framingham offspring study found that maternal and paternal diabetes conferred equal risk for offspring type-2 diabetes.Objectives: We conducted this study to compare the clinical characteristics of children and adolescents with family history of type- 2 diabetes mellitus, in one or both parents,...

The prevalence of biopsy-proven CD in T1D in pediatric populations widely ranges between 2.6 in Finland to 16.4 in Algeria. Many patients with CD and T1D are either asymptomatic (silent CD) or present with only mild symptoms. CD children may be less likely to show overt growth failure but can have weight and height measures at a lower growth percentile and complain of nonspecific symptoms, including anorexia and lassitude.Aim; Patients and Methods:<p...

The incidence of both type 1 (T1DM) and type 2 diabetes (T2DM) has shown a rise in Qatar in parallel with a notable increase in the incidence of a new expression of the disease in children and adolescents, with the characteristics of a mixture of the two types of diabetes and referred to as ’double diabetes’ (DD). Insulin resistance and obesity, together with the presence of markers of pancreatic autoimmunity - namely, autoantibodies to islet cell antigens - typicall...

Objective: The A1C assay, expressed as the percent of hemoglobin that is glycated, measures chronic glycemia and is widely used to judge the adequacy of diabetes treatment and adjust therapy. Day-to-day management is guided by self-monitoring of capillary glucose concentrations (milligrams per deciliter or millimoles per liter) as well as by using continuous glucose monitoring systems (CGMS). We found a mathematical relationship between A1C and average glucose (AG) levels meas...

Background: We compared continuous glucose monitoring (CGMS) (Medtronic) to oral glucose tolerance test (OGTT) and HbA1c in the follow-up of glycemic abnormality in an adolescent girl with morbid obesity and glycemic abnormalities before and after 2 months of partial gastrectomy. This 16-year-old adolescent girl presented with obesity (weight 98 kg, height 158 cm, BMI=39.2 kg/m2), acanthosis nigricans and nocturnal polyuria and polydipsia. Trials to reduce weight th...

Background: Abnormal cardiac development leading to CHD can be associated with abnormal placental development with abnormal trophoblast invasion and remodeling resulting in abnormal transfer of nutrients and oxygen.Objective and hypotheses: We measured the anthropometric parameters (length, weight, and head circumference) and the placental weight of 49 FT newborns (gestation period >36 weeks) infants with CHD ((cyanotic (n=8) and acyanotic (...