ESPE Abstracts

Langerhans cell histiocytosis (LCH) is a rare disorder of unknown etiology affecting the mononuclear phagocyte system. It is characterized by clonal uncontrolled proliferation and accumulation of immature dendritic cells in different organs. Affected cells express CD1-alpha and/or CD207 (Langerin) on immunohistochemistry. Although bone is the most commonly affected organ (80%), all other organs can be affected either alone or in combination. LCH is classified into Single syste...

Objective: To establish INS-1 cell iron overload model, and study the effect on iron overload, proliferation, insulin secretion, mitochondria defect and oxidative stress change.Methods: INS-1 cells were cultured with different concentrations (0 as control and 5, 10, 20, 40, 80,160,320µmol/L respectively) of ferric ammonium citrate (FAC). Labile iron pool (LIP) were calculated by detecting calcein-AM fluorescence ...

Background: Patients with Turner Syndrome (TS) are at high risk for congenital heart disease (CHD), aortic dilatation and dissection with increased mortality and morbidity. Thoracic gadolinium-enhanced MRI angiography allows clear imaging of all great vessels and revealed a spectrum of silent vascular anomalies (VA), both venous and arterial, undetected at Echocardiography.The aim of this study is to retrospectively evaluate the prevalen...

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...

It is known that a larger number of blood glucose control, glycemic control of patients with type 1 Dm suffers improvement. Likewise, the presence of hypoglycaemias maintained, especially at night and in school-age patients, could have a significant influence on neurological aspects such as night rest, learning and memory. Improved technology has id allowed or development of control devices interstitial glucose, both blinded (retrospective) as erta abi (real time). The free FR...

Objectives: Compared to the US, prevalence rates of T2DM in obese children are significantly lower in European countries. Data from cohorts of obese children living in the US suggest a concurrent worsening of insulin sensitivity and ß-cell function over the spectrum of glucose tolerance. If these results can be applied to European populations is currently unknown.Methods: A combination of our novel method for mathematical modelling ...

Adrenal cortical tumor is rare in children and aldolescents. It is more common in girls and almost hormone overproduction with Cushing syndrome and virilization. Resection is the main management in order to control defenitively. Differentiating from begnin to malignancy lesion still remains a big obstacle for the clinicians and histopathologist. We report two cases of adrenal cortical tumor in children with different signs and symptoms and review their clinical presentations, ...

KBG syndrome (OMIM 148050) is a an emerging autosomal dominant disorder caused by heterozygous mutations in the ANKRD11 gene or deletions of 16q24.3, characterized by developmental delay, short stature, dysmorphic facial features and skeletal anomalies. Patients and methods: We report 22 patients with dysmorphic features, learning disabilities, behavior problems and macrodontia, where a clinical diagnosis of KBG was suspected. An ANKRD11 defect was confirmed in 12 patients. In...

The patient was referred to our Centre for short stature. Weight and length at birth were within normal limits. In the neonatal period he showed jaundice and hypoglycemia. A reduced growth velocity was reported from the age of six months. At 15 months his length was 70 cm (−3.75 SDS), his weight 8.1 kg (−2.26 SDS). Parental target height was 167.6 cm (−1.38 SDS). He had normal psychomotor development. The examination showed macrocrania and nasal voice. Blood ...

Adrenocortical tumors are rare childhood neoplasms. More than 95% are functional and present with virilization, Cushing’s syndrome, hypertension, or hyperestrogenism. We present a exceptionally rare case of a patient with androgen- and cortisol-co-secreting adrenal adenoma. A 4-year-old girl was referred to us for appearance of symptoms of virilization: moustache, pubic hair, and gradual enlargement of clitoris for 1 year. Her voice gardually deepened and changed to male ...