ESPE Abstracts

Introduction: Packed red blood cell (PRBC) transfusions are an essential component of leukemia treatment regimens. Transfusion-induced iron overload can be seen after approximately 10 to 20 transfusions. Very little is known about transfusion-related iron burden in oncology populations and its possible effect on endocrine function and glycemia.Patients and methods: We evaluated growth parameters and endocrine disorders in relation to the iron overload st...

Introduction: An age-related progression from C-cell hyperplasia to medullary thyroid carcinoma (MTC) is associated with various germ-line mutations in the rearranged during transfection (RET) proto-oncogene that could be used to identify the optimal time for prophylactic surgery. In 207 patients from 145 families there was a significant age-related progression from C-cell hyperplasia to MTC. Thus, early diagnosis and prevention are particularly crucial....

Background: Johanson-Blizzard syndrome (JBS) is a disease characterized by poor growth, variable dysmorphic features, including aplasia or hypoplasia of the nasal alae, sensori-neural deafness, abnormal hair patterns or scalp defects, and oligodontia. Other features of JBS include pan-hypopituitarism, imperforate anus, and PI. Pancreatic endocrine insufficiency (PI).Case study: AM is a 10 years-old boy, born at term with aplasia of the alae nasi and cong...

Introduction: Skin barrier defects play central role in the pathogenesis of atopic dermatitis (AD) affecting local immunity and skin hydration. Severe AD may deleteriously affect growth and nutrition in these children.Objectives: To 1) measure the effect of AD on linear growth in infants and children 2) to study the effect of hypoalbuminemia and hypo-proteinemia on the growth of these children.Methods: We studied linear growth and ...

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...

We evaluated the linear growth and some endocrine function in 10 adolescents with Thalassemia Intermedia (TI) followed at Hematology Section, Doha (Qatar) in relation to the liver iron content (LIC).Patients and Methods: This retrospective cohort study was performed on 10 adolescents with TI who were randomly selected from the Hematology clinic, National Centre for Cancer Care and Research, Hamad Medical Corporation of Doha (Qatar). 8 in...

Background: Pre- and postnatal growth retardation of unknown pathogenesis is a common clinical feature in patients with Williams-Beuren syndrome (WBS). However, growth hormone deficiency (GHD) has not been considered a major cause of growth retardation.Case reports: We report two female patients with confirmed WBS who had defective GH secretion in response to two provocative tests and low IGF-I level and their growth response to GH therapy for 9 years. T...

Introduction: In diabetic pregnancies, data about the interaction between maternal, placental, and fetal IGF1/IGFBP in relation to newborn size is not clear,Aim: To review research papers published in Pubmed, Google scholar, Research gate, and Scopus in the past 20 years on the relation between placental IGF1/IGFBP-1 and fetal/infantile/childhood growth in pregnancies associated with maternal diabetes.<p class="abste...