ESPE Abstracts

Background: In infants under 3 years of age acquired primary hypothyroidism caused by autoimmune thyroiditis is very rare. Hypothyroidism can manifest with different signs and symptoms and has a wide range of presentations from subclinical hypothyroidism to overt form.Objective and hypotheses: We describe a child with an unusual hypothyroidism presentation characterized by multi-organ involvement and related to acquired autoimmune thyroiditis during a ve...

Capillary hyperglycemia in critically ill infants is a situation with numerous interfering factors, from acute illnesses to concomitant use of medications and may or may not be a manifestation of endocrinological urgency. Clinical case: Female patient, 2 months old, with failure to thrive, hepatomegaly without cholestasis, polyuria and compensated metabolic acidosis. On admission, capillary blood glucose levels above 200 mg/dL were measured even without concomitant use of cort...

Introduction: Individuals with Prader-Willi syndrome (PWS) suffer from hyperphagia, hypotonia and hypothalamic dysfunction, leading to a variety of pituitary hormone deficiencies. Central adrenal insufficiency (CAI) has been reported in PWS, while each of these studies used different testing modalities and cut-off values. Therefore, reported prevalence of CAI ranges from 0% to 60%. It has been speculated that CAI might be responsible, at least in part,...

Background: Obesity is a worldwide epidemic affecting adults and children. Social changes throughout history have contributed to modifications in nutrition and physical activity levels. These changes in lifestyle affected health, increasing the number of metabolic and cardiovascular diseases. Obese children already have a low grade systemic inflammation as well as markers of increased cardiovascular risk. The endothelial function is an important and early marker of atheroscler...

Keywords: Anti-GAD antibodies, Anti-thyroid antibodies, celiac disease, HbA1c, type-1 diabetes mellitus. We analyze the association of anti-GAD positive type-1 diabetes mellitus (T1DM) with anti-thyroid antibodies and celiac disease. We analyzed children of both gender and aged between 1 to 18 years having known T1DM. Blood sample of each child was taken in sterilized container and sent to institutional laboratory for biochemical investigations. In a total of ...

Congenital hyperinsulinism is a rare genetic cause of symptomatic hypoglycemia carrying risk of significant morbidity and mortality if left undiagnosed and untreated. It is characterized by unregulated insulin secretion from pancreatic beta cells leading to hypoglycemia. It can be broadly classified into diffuse and focal types. Till date, at least nine different types of genes are identified among which ABCC8 and KCNJ11 are the most common genetic mutations. Genetic mutation ...

Keywords: Central Precocious Puberty, Girls, Peripheral, IdiopathicBackground: Precocious puberty is thought to occur in 1 in 5000–10,000 people. Precocious puberty is a neglected topic in Pakistan, and little research has been done so far to examine its aetiology in our population, despite its importance and relative prevalence.Objective: To find the frequency of precocious ...

Introduction: Langerhans cell histiocytosis is a neoplastic disorder characterized by proliferation of myeloid dendritic cells. It can involve single system or multisystem with commonly involving sites including skin, bone, central nervous system, lung, hematopoietic system, liver and spleen. It also involves the endocrine system with diabetes insipidus a common presentation in 15-50% cases. It has a broad spectrum of presentation ranging from a relatively ben...

Introduction: Thiamine responsive megaloblastic anemia (TRMA) is a rare autosomal recessive condition caused by mutations in SLC19A2 gene and is classically characterized by the triad of diabetes mellitus, sensorineural hearing loss and megaloblastic anemia. It usually presents between infancy and adolescence but the cardinal findings are often not present initially. The anemia, and sometimes the diabetes improves with high doses of thiamine. Apart from the cl...

Background: Genome-wide association studies have identified more than 60 SNPs associated with BMI. Additional genetic variants, such as copy number variations (CNV), have also been implicated in the pathogenesis of obesity. Recently, the highly polymorphic CNV in the salivary amylase (AMY1) gene has been associated with obesity risk in adults.Objective and hypothesis: To assess the potential association between AMY1 copy number and BMI ...