ESPE Abstracts

Background: Cystic fibrosis is associated with abnormal lipid metabolism and this anormality is commonly characterized by low cholesterol and hypertriglyceridemia. The increasing in life expectancy of cystic fibrosis patients has enhancing the interest for prevent the risk factors for cardiovascular diseases like dyslipidemias.Objective and hypotheses: Determine whether concentrations of cholesterol and triacylglycerol are related to nutritional status a...

Background: There is paucity of information regarding etiology and clinical profile of hypopituitarism from populations with high rates of consanguineous marriage like Sudan. We report the first data on etiological factors and clinical profiles of children with hypopituitarism from Sudan. Methodology: This study was a descriptive, hospital based, retrospective study carried out in two major pediatric endocrinology centers in Sudan (Khartoum state) from January...

Background: Vitamin D dependent rickets type II (VDDR II) is a rare autosomal recessive disorder, inherited due to mutation on vitamin D receptor (VDR) leading to end organ unresponsiveness to vitamin D. It is characterized by an early onset refractory rickets, hypocalcaemia, hypophosphatemia, growth retardation, hyperparathyroidism and elevated circulating levels of 1,25-dihydroxyvitamin D3 which is the hallmark of the disease.Objective and hypotheses: ...

Sitosterolemia is an autosomal recessive disorder affecting lipid metabolism which is characterized by decreased biliary excretion and increased absorption of plant sterols and cholesterol, leading to significantlyelevated serum levels of plant sterols. Approximately 80 homozygous or compound heterozygous variants in adenosine triphosphate-binding cassette subfamily G genes (ABCG5/ABCG8) genes have been described in patients with genetically confirmed sitosterolemia. Clinicall...

Background: Neonatal severe primary hyperparathyroidism (NSHPT, MIM 23900) is a potentially lethal autosomal recessive disorder characterized by severe hypercalcemia, markedly elevated serum PTH levels and skeletal abnormalities that include multiple fractures, demineralization and erosions. It is secondary to biallelic loss of function mutation in the CASR gene that encodes the calcium sensing receptor.Case presentation: We identified a 10-day old baby ...

Introduction: Fanconi-Bickel syndrome (FBS), is a rare autosomal recessive disorder of carbohydrate metabolism (FBS, OMIM 227810), caused by defects in the facilitative glucose transporter glut-2, which transports glucose in and out of hepatocytes, pancreatic β cells and basolateral membranes of intestinal and renal epithelial cells. Characteristic features include growth failure, hepatomegaly, glucose and galactose intolerance, fasting hypoglycemia, and renal tubular nep...

Introduction: Subclinical hypothyroidism (SH) is reported up to 20% of obese population and thyroid hormone replacement in these individuals are controversial. In this study, we aimed to determine the effect of thyroid hormones on basal metabolic rate (BMR) in obesity and, thyroid hormone replacement on BMH and weight in obese patients with SH.Method: The study was conducted in 31 obese children (15 of them had subclinical hypothyroidism) admitted to our...

Background: Laron syndrome is an autosomal recessive disease caused by molecular defect in GH receptor gene. The patients have severe growth retardation and clinical features of GHD with low IGF-1, high basal GH and failed response to IGF-1 stimulation test. The only proved treatment is daily recombinant IGF-1 administration which showed improvement in linear growth.Aim: To describe the largest group of patients with lar...

Background: Low-dose adrenocorticotropic hormone stimulation test (LDST) is commonly used for evaluating the adequacy of hypothalamo-pituitary-adrenal axis functions. However, there is still no standardization between protocols used in different centres.Objective: To contribute to the optimal time of highest cortisol response in the LDST in children.Design: A prospective study of L...

Background: Paternally expressed mono-allelic pathogenic variants in the MAGEL2 (melanoma antigen L2) gene cause Schaaf-Yang syndrome (SHFYNG), a multisystem disorder with psychomotor delay, intellectual disability, behavioral abnormalities, and obesity. Severity of the disease is highly variable, some patients may die in utero and some can live with moderate disabilities. MAGEL2 gene is located in the 15q11.2– q13 region which includes...