ESPE Abstracts

Background: Inactivating mutations in the calcium sensing receptor (CASR) may result in disorders of calcium homeostasis manifesting as familial benign hypocalciuric hypercalcemia (FBHH) and neonatal severe hyperparathyroidsm (NSHPT).Objective and hypotheses: We report two cases with NSHPT together with their treatment and long-term follow-up.Method: Two cases were referred with severe hypercalcemia in the neonatal period....

The 3M syndrome is a rare autosomal disorder that can lead to short stature, dysmorphic features and skeletal abnormalities with normal intelligence. A-one year and four month-female patient had been reffered to our clinic for growth and developmental delay. Case history revealed a birth weight of 1740 grams on 39th week of gestation, with 42 cm body height and no prior hereditary conditions of clinical significance in her family. On physical examination, her height was 67 cm ...

Background: Proopiomelanocortin (POMC) deficiency is characterized by early-onset obesity, adrenal failure, red hair and pale skin. The first genetic mutation in the POMC gene was demonstrated in 1998. This disorder is rare, but has increased our insight into the important role of the leptin-melanocortin pathway in energy balance. POMC deficiency causes obesity due to the inadequate production of alpha and beta MSH from POMC, which normally activate the melanocortin 3 receptor...

Introduction: Hyperinsulinemic hypoglycemia is one of the most common causes of severe and persistent hypoglycemia in neonates and children. Early diagnosis and appropriate treatment prevent brain damage due to recurrent hypoglycemia. Genetic examination often can guide the treatment. The most common affected genes are the ABCC8 and KCNJ11 genes, which encode the SUR1 and Kir6.2 KATP channels, respectively. Here, a neonate with a novel variant in AB...

Introduction: Gonadotropin releasing hormone analogs(GnRHa) have been used safely for many years in the treatment of central precocious puberty(CPP).Although rare; pain, swelling, erythema at the injection site are known local side effects in patients receiving GnRHa treatment and are temporary.Sterile abscess(SA) development is also one of the rare local side effects.We presented three cases of treatment failure due to the development of SA after GnRHa therap...

Introduction: The annual incidence of Langerhans cell histiocytosis (LCH) is 5 per million in admission with a diagnosis of isolated central diabetes insipidus (CDI) in children under the age of 15. Here, the process leading to the diagnosis of LCH at presentation with isolated CDI, imaging findings, and the sellar erosion, which has not been previously reported in the literature, will be discussed.Case presentation: A 4-year-5-month-old...

Introduction: Hyperinsulinemic hypoglycemia (HH) is a clinically, genetically and morphologically heterogeneous group of diseases characterized by dysregulation of insulin secretion by pancreatic beta cells. HH may be associated with congenital, genetic, metabolic or syndromic causes. Here, a case in which Turner Syndrome (TS) and hyperinsulinemic hypoglycemia were detected together is presented due to its rarity.Case: A...

İntroduction: Amiodarone, an iodine-rich antiarrhythmic agent, is associated with thyroid dysfunction in 15-20% of patients, potentially leading to amiodarone-induced thyrotoxicosis. The etiology of amiodarone-induced hyperthyroidism encompasses two distinct mechanisms: iodine-induced hyperthyroidism (Type 1) prevalent in patients with Graves' disease or nodular goiter, and destructive thyroiditis-induced hyperthyroidism (Type 2) observed in individu...

Introduction: Chronic inflammation is closely associated with metabolic disorders such as obesity, insulin resistance and Type 2 DM, and is dependent on abnormal cytokine production and activation of inflammatory signaling pathways. Adipose tissue is a metabolically active organ that can be a source of low-grade chronic inflammation in obese individuals. Our aim in this study; to determine whether there are changes in proinflammatory and antiinflammatory cytok...

Introduction: A derivative chromosome (der) is a structurally rearranged chromosome generated either by a chromosome rearrangement involving two or more chromosomes or by multiple chromosome aberrations within a single chromosome. Balanced segmental anomalies such as inversion or translocation can lead to derivative chromosomes with partial duplication and deletion during meiosis. Here we present two patients with hypergonadotropic hypogonadism and various acc...