ESPE Abstracts

A 6-year-old girl presented with hypertrichosis all over the body. She was born at term with a birth weight of 2 kg. She had a paralytic squint with excess body hair since birth. She had delayed developmental milestones. She had HTSDS = -1.3, BMI SDS = 0.66. Her Mid-parental HtSDS = 0. She had no other signs of puberty. (breast Tanner 1). Investigations revealed DHEAS = 3.3 Umol/L, Estradiol = 43 pmol/l, FSH = 1.5 IU/L. LH = 0.5 IU/L, Testo: 0.63 nmol/l, IGF1 = 200 ug/l, FT4 =...

Case presentation: We report a five -year-old girl who presented for evaluation of obesity, abdominal distension, vaginal bleeding for two days, and abdominal distention. There was no history of local trauma or vaginal discharge associated with the vaginal bleeding and no suspicion of abuse. There was no purpura or bleeding from other sites. Her HtSDS = -1.3 SD and BMI SDS = + 1.5 SD. A large abdominal mass was palpable. There was no hepatomegaly, splenomegaly or lymphadenopat...

Background: Chronic kidney disease (CKD) was defined by structural or functional renal abnormalities, or an estimated glomerular filtration rate (GFR) of less than 60 mL/min per 1.73 m2. A child with CKD may develop many complications such as: anemia, poor growth and nutrition, bone and mineral disorders, cardiovascular complications, and complications of hemodialysis, and peritoneal dialysis.Aim: Assessment of severity ...

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...

The “Hybrid Diabetes (HD)” is a new term that emerged in the last few years to describe diabetes with combined features of type 1 and type 2 diabetes. The etiology behind hybrid diabetes is not well understood, and clinical characteristics for these unique patients were not described before. Differentiating HD from other forms of diabetes will lead to a better understanding of the disease process and course, as well as knowing the most appropriate management plan to ...

Introduction: Osteogenesis imperfecta (OI), is a genetically heterogeneous connective tissue disorder associated with skeletal fragility, deformity, and growth deficiency. Intravenous bisphosphonate therapy is the mainstay of medical treatment of this condition. Given the paucity of data from Asia we sought to evaluate the genetic epidemiology and the response to pamidronate therapy in a cohort of Malaysian patients.Method: Genetic analysis was performed...

Background: Recent studies have shown a rising trend in pediatric obesity. However, studies dealing with the ultimate metabolic consequences of pediatric obesity and the means of accurately predicting these consequences are limited.Objective and hypotheses: To study the utility of WHtR as a marker of insulin resistance. To validate the presently used cutoffs (≧0.5) and validate its utility in populations studies.Method: 96 c...

Introduction: The conventional approach to the treatment of Beta- thalassemia major (BTM) is based on the correction of hemoglobin status through regular blood transfusions and iron chelation therapy for iron overload. Allogeneic hematopoietic stem cell transplantation (HCT) remains the only currently available technique that has curative potential. No previous study compared the long-term growth and endocrinopathy changes among large cohorts of BTM patients o...

Background: Metabolic syndrome (MetS) is related to increased cardiovascular complications of obesity. The triglyceride-glucose (TyG) index is frequently used as an indicator of insulin resistance in adults. However, there is scant information on the TyG index in the morbidly obese Pediatric population, nor is its correlation with the components of the metabolic syndrome (MetS).Methods: We compared the use of TyG vs athe...

Obesity is a state of imbalance between food intake and energy expenditure leading to a positive energy balance. This condition may be due to the existence of a genetic syndrome: the Prader-Willi syndrome (PWS) is the genetic cause the most common obesity and Laurence-Moon Bardet-Biedl syndrome (BBS), autosomal recessive.Objectives: Our objective is to compare the cardio-metabolic risk factors in children with obesity gene to those of ch...