ESPE Abstracts

Congenital hyperinsulinemia occurs due to inappropriate insulin secretion from beta cells of the pancreas. It is the most common cause of resistant and recurrent hypoglycemia in neonates and infants and the threatment is very difficult. Although the incidence is reported as 1/50000, it is seen more frequently in consanguineous countries. Patients may present with lethargy, nourishment, irritability and seizures. If it is not treated, severe hypoglycemia may result in severe ne...

Objective: According to the etiology of hyperparathyroidism, it is divided into primer and secondary (uremic). It usually develops due to CaSR mutation in the infancy period. On the other hand, it usually emerges secondary to a parathyroid adenoma in adolescents. Parathyroid adenomas seen in childhood are commonly associated with familial multiple neoplasia syndromes (MEN). Patients may present with bone pain, proximal myopathy, fractures, renal stone, pancreatitis or they can...

Background: Type 2 diabetes is a heterogeneous disorder characterized by the defective of insulin, which can not progressively compensate for insulin resistance, due to the influence of environmental factors on the basis of genetic susceptibility. Hyperglycemia, which starts with insulin resistance, is thought to show toxic effects (glucotoxicity) on β cells and ultimately impairs beta cell function., Although many factors play a role in etiology, obesity is the most comm...

Objective: Several studies have shown that sleep plays an important role as a modulator of metabolic homeostasis. Indeed, hundreds of studies have been published to examine the relationship between insufficient sleep, late bedtime and obesity. We have studied bedtime snack as another parameter. We suggested that it may be a risk factor for obesity. When we looked at the literature, we could not find any study about bedtime snack in childhood, but there are a few studies in adu...

Objective: Sedentary lifestyle obviously increases the risk of obesity. Reduced physical activity and increased screen-time seem to act as major determinants of the rapid increase of childhood obesity. Prevention of obesity is easier and more practical in comparison with treatment of obesity and its complications. Treatment of childhood obesity not only carries positive biopsychosocial consequences for the child but also serves as an important public health issue by preventing...

Background: 4p duplication syndrome is a very rare chromosomal disorder. In the literature; dysmorphic facial features, learning disability, speech retardation, overgrowth, musculoskeletal abnormalities, attention deficit hyperactivity disorder and autism syndrome have been reported to be associated with 4p16.3 duplication. Here we present a patient who admitted to our clinic with complaints of growth in hands and feet along with delayed speech and mental retardation. The gene...

Aim: Premature pubarche is defined as the start of axillary and pubic hair before age 9 in boys and 8 in girls. 10 times more common in girls than boys. Central precocious puberty is a condition due to early activation of hypothalamic-pituitary- gonadal axis associated with breast development before age 8 in girls and testicular volume growth before age 9 in boys. Despite this axle is not known exactly which hormones are respnsible for the activation, the role of kisspeptin&#1...

Introduction: Aromatase deficiency leading to virilization in mother and female fetuses during pregnancy is a rare disease. It is characterized by impaired estrogen production, increased gonadotropins, and ovarian cysts. Herein, we report a clinical phenotype of the virilized female due to a novel compound heterozygous mutation in CYP19A1.Case report: A 4-month-old girl was referred due to cliteromegaly. Her mother had developed acne, hair loss,...

Background: Type 1 Diabetes (T1DM) is one of the most common paediatric endocrine disorders in India, but diagnosis is often delayed. Moreover, systematized data about symptoms, presentation, management and follow-up of T1DM in India is lacking. Absence of such data makes formulation of uniform region and nationwide protocols for diagnosis, management and follow-up of T1DM patients difficult.Objective and hypotheses: To generate data about presentation a...

Introduction: X-linked adrenoleukodystrophy (X-ALD) is an inherited peroxisomal disease characterized by beta oxidation disorder that causes the accumulation of very long chain fatty acids (VLCFA) in all tissues. It presents with clinical signs due to accumulation of VLCFA in brain white matter, testes, adrenal cortex and skin fibroblasts. Here, we will present a case applied to the outpatient clinic due to not going through puberty period and who was diagnose...