ESPE Abstracts

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: 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...

Objective: The incidence of congenital hypothyroidism (CH) has increased worldwide. Lowering cut-off in screening programs has led to an increase in the rate of transient CH. We aimed to evaluate the rates of permanent and transient CH in cases referred from the screening program and to investigate the clinical and laboratory factors to predict the transient CH.Methods: 109 cases referred from the screening program to ou...

Introduction: IMAGE Syndrome (#614732) is an autosomal dominant inherited syndrome as a result of CDKN1C mutation characterized by the association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. Here, long-term follow-up of a case with clinical IMAGE syndrome, no genetic mutation was detected, will be presented.Case: A three-month-old baby boy was brought wi...

Introduction: Isodicentric-Ychromosome;has phenotypic findings such as gonadal dysgenesis, short stature, Turner syndrome in girls, infertility in boys, and insufficient virilization. Here, a case with growth retardation, short statureand infertility findings, and isodicentric-Ychromosomal anomaly(in addition to tuberosclerosis) who underwent endocrine follow-up due to obesity will be presented.Case: The patient, who was...

Background: Androgens play a pivotal role in non-reproductive tissues, such as the kidney, heart, and liver, as well as the pancreas. Since the androgen receptor is expressed in pancreas and liver cells, this raises the possibility that excess testosterone results in insulin hypersecretion, and in fetuin-A, a protein produced in the liver. However, whether fetuin-A and insulin levels are affected by androgens in classic congenital adrenal hyperplasia (CAH) due...