ESPE Abstracts

Blood transfusion and iron chelation are conventional treatments for β-thalassemia (BTM). However, iron overload in parenchymal organs and endocrine glands still occurs in a good number of these patients.Objective: To evaluate the prevalence of iron-related complications (short stature, growth retardation, and growth hormone deficiency) in BTM.Methods: We performed an electronic search in PubM...

Introduction: Development of type 1 diabetes is well known in cases of type 2 autoimmune polyglandular syndrome (APS). We describe a case of APS2 who developed a hybrid form of diabetes that responded to metformin therapy.Case: The patient is a 17.5 year old male patient who has been diagnosed with APS2 at the age of 13 years with primary adrenal insufficiency and autoimmune hypothyroidism .he has been on treatment with ...

Background: Variability still exist about the growth response to growth hormone (GH) therapy in children with idiopathic short stature We describe the growth response to GH therapy ( 0.05 mg/kg/day) for > 2 years in 20 prepubertal children with idiopathic short stature (ISS) who had slow growth velocity ( < -1 SD), normal GH response to provocation and who were significantly shorter than their mid-parents height SDS MPHtSDS (-1 difference).<p class...

The availability of biosynthetic growth hormone (GH) ensures that children who are deficient can have replacement therapy, but it also has created the opportunity to treat children who are short but do not have a deficiency. Non-GH deficient short stature, without treatment, the height outcomes in most studies have failed to reach mid-parental target height. GH therapy resulted in mixed height outcomes; some reached genetic target height whereas others failed. The aim of this ...

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...