ESPE Abstracts

Background: Idiopathic intracranial hypertension (IIH) is a disorder of elevated intracranial pressure without any evidence of intracranial pathology or underlying systemic disease. Obesity was reported as a significant cause of IIH in childhood especially in adolescents.Objective and hypotheses: IIH is a disorder of elevated intracranial pressure without any evidence of intracranial pathology or underlying systemic disease. Obesity was reported as a sig...

Background: Human health might be negatively affected by chemicals named as endocrine disrupters. Researchers showed that phthalates (bis-(2-ethylhexyl) phthalate (DEHP), mono-(2-ethylhexyl) phthalate (MEHP)) and bisphenol A (BPA) have an anti-androgenic and/or estrogenic effects. These endocrine disruptors are accused in occurrence and/or possible increase in unusual early puberty in girls in recent years.Objective and hypotheses: The aim of th...

Background: Polycystic ovary syndrome (PCOS) is characterized by ovulatory dysfunction and excess androgen secretion. Androgens may affect bone marrow cells via androgen receptor which expressed in the bone marrow. Also it is known that especially testosterone increases hemoglobin and hematocrit concentrations.Objective and hypotheses: Our aim in this study is to describe the relation between hyperandrogenism and complete blood count (CBC) parameters in ...

Introduction: Neurofibromatosis type 1 (NF-1) is an autosomal dominant disease. The NF-1 gene is located on chromosome 17 and encodes a gene product called neurofibromin. Mutation or deletion of the NF-1 gene results in phenotypic features involving many systems. Hypophosphatasia is a group of inherited disorders characterized by impaired mineralization of bones and/or teeth and low serum alkaline phosphatase (ALP) activity. It occurs as a result of a loss-of-...

Background and objective: 21alpha-hydroxylase deficiency congenital adrenal hyperplasia (21OHD-CAH) is the most common etiology of inherited primary adrenal insufficiency (PAI) in children. Neonatal CAH screening is important for early diagnosis of salt-wasting 21OHD and other virilizing CAH (11beta-hydroxylase, 3beta-hydroxysteroid dehydrogenase deficiencies) and for avoiding mortality, especially in salt-wasting CAH. Neonatal CAH screening has become nationw...

Childhood obesity has emerged as an important public health problem in the worldwide. It is important to follow these cases in multidisciplinary centers at an early age in order to prevent metabolic and psychosocial comorbidities that may develop. Bariatric surgery is a treatment method whose frequency is increasing in adolescent obesity. In the study, the 6-month results of the patients who applied to the obesity center were shared.Materials-Met...

Background: The most common reason for the increased mortality and morbidity in TS, which results from partial or complete deficiency of an X chromosome in a female, is acquired cardiovascular disease, which is the result of endothelial dysfunction that causes atherosclerosis. Endocan, an inflamatory marker, has been found elevated in several diseases with endothelial dysfunction (ED). There is no study of endocan levels in TS.Ob...

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 ...

Background: Fanconi-Bickel syndrome (FBS) is a glycogen storage disease caused by the homozygous mutations of SLC2A2 gene which codes GLUT2 protein. It is characterized by growth retardation, hepatomegaly and hypophosphataemic rickets. While most of the cases with FBS have fasting hypoglycaemia and postprandial hyperglycaemia, only few cases had been shown to have neonatal diabetes (ND).Case presentation: A 14 days old girl was admitted to hospital with ...

Background: Achondroplasia (ACH) is the most common skeletal dysplasia with an incidence of 1/20,000. Acanthosis nigricans (AN) is commonly seen in conditions associated with reduced insulin sensitivity. AN has been reported in association with skeletal dysplasias due to activating mutations in FGFR3, including ACH.Objective: Our aim was to evaluate insulin sensitivity and glucose metabolism in patients with ACH carrying...