ESPE Abstracts

Childhood obesity (CO) is an important risk factor for the development of many chronic metabolic diseases in adulthood. Understanding the mechanisms that promote childhood obesity and eliminating these causes in childhood are critical for later life. One of the major complications of obesity is insulin resistance. The purpose of this study is to investigate the relationship between sunlight exposure and insulin resistance in childhood. Specifically, it examines how the duratio...

Introduction: Congenital lipoid adrenal hyperplasia is the most severe form of congenital adrenal hyperplasia and is rarely seen. Steroid synthesis cannot be done in the adrenal gonads. Adrenal glands have hyperplasia and lipid accumulation. Male babies are born to girls. Most of the cases are lost with severe adrenal insufficiency. Patients diagnosed and treated at supraphysiological doses during neonatal period. Here we present a case of lipoid adrenal hyperplasia diagnosed ...

Orexigenic molecules such as ghrelin and neuropeptide Y (NPY) can contribute puberty as directly or indirectly. Our aim is to investigate the changes in the levels of orexigenic peptides ghrelin and neuropeptide Y at the onset of puberty in girls with idiopathic central precocious puberty (ICPP), premature thelarche (PT) and premature adrenarche (PA), and to determine their relationship with gonadotropins and anthropometric parameters.Subjects an...

Introduction: The harmfull or benefical effect of obesity on bone mineral density (BMD) is remain controversial in children and adolescence. Either increase or decrease of BMD have been reported. Several factors such as insülin resistance, prediabetes, high proportion of fat mass, sedentary lifestyle were suggested to cause the differences of BMD in obesity. FGF-21 is a metabolic factor that plays a specific role in the regulation of carbohydrate and lipi...

Autosomal dominant DICER1 mutations are among the causes of early-onset familial cancer. DICER1 mutation has been shown in pleuropulmonary blastomas as well as ovarian tumors, thyroid, parathyroid, pituitary, adrenocortical and testicular tumors. It is important to be aware of the risk for the development of other cancers in the follow-up of these cases.Cases: Case-1: Previously known to be healthy 8,5-year-old girl presented with compla...

Introduction: Isolated hypoaldestronism is a rare endocrinopathy in a limited number of patients who secrete normal level of cortisol, due to mutation in CYP11B2. In some cases clinical diagnosis can be late and genetic analysis showed difficulties.Case 1: A 7 month-old girl infant was referred to endocrinology department due to womiting, failure to thrive and severe hyponatremia with unexplained neutropenia. She was bor...

Aim: Glucose metabolism can affect by several genes, and some of them represent distictive clinical and laboratory features. tRNA methyltransferase 10 homologue A (TRMT10A) gene is a tRNA methyl transferase, and localised to the nucleolus, where tRNA modifications occur. Very recently, a novel syndrome of abnormal glucose homeostasis or nonautoimmune diabetes associated with microcephaly, epilepsy, intellectual disability, failure to thrive, delayed puberty caused by ...

Background: Gitelmann syndrome, a rare autosomal recessive disorder, is characterised with hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. Mutations in the SLC12A3 gene, which encodes for ‘Thiazid sensitive sodium chloride co-transporter channels’ located at the renal distal convoluted tubules account for the underlying molecular mechanism of Gitelmann syndrome. Although, is less frequent than those seen in ‘Bartter Syndrome’, the exact m...

Aim: Pituitary hypoplasia, empty sella syndrome, and ectopic neurohypophysis are common causes of pituitary MRI of the patient with congenital hypopituitarism. We aimed to search clinical and radiological examination of the patient with congenital hypopituitarism.Method: We evaluated age, diagnosis, laboratory evaluation, hormone deficiencies, accompanying diseases, and MR images of the patients with multiple pituitary hormone deficiency.<p class="ab...

Background: Sotos syndrome is a rare syndrome; with distinctive clinical findings include typical facial appearance, learning disability; and overgrowth. Advanced bone age can be detected in some cases while precocious puberty reported only in two cases until now.Case: A 6,5 months of age male infant admitted to clinic with neuromotor delay and macrogenitalia. He was second child of unrelated healthy parents, and birth-weight was 4200 g. In physical exa...