ESPE Abstracts

Introduction: In the pediatric age group, the incidence of the adrenocortical cancer (ACC) is 0.2%. The effective treatment is surgical resection. The only medical option is mitotane but it has negative effects on steroidogenesis. The difficulty in the management of mitotane therapy is discussed in this case.Case report: An 1110/12 years-old boy was referred with A 5 cm diameter solid-hypoecoic mass observed by sonography in the left surrenal ...

Background: Luteinizing hormone stimulating hormone (LHRH) test is the gold standard test in the diagnosis of puberty precocıous (PP). The basal levels of FSH (follicular stimulating hormone) and LH (luteinizing hormone) cannot be always reliable.Objective and hypotheses: To investigate the relation between the LHRH test and basal levels of FSH and LH.Method: Girls with puberty started before the age 8 are investigated. Eighty...

Introduction: A rare cause of diabetes mellitus is Wolfram Syndrome, which arises from mutations in wolframin gene found on chromosome 4. Optic nerve atrophy, diabetes insipidus, sensorineural deafness, psychiatric problems can accompany diabetes mellitus, so it can be also named as DIDMOAD syndrome. Hypergonadotrophic hypogonadism can be rarely observed in Wolfram syndrome. A case of novel homozygous mutation in the wolframin gene has been reported because of concomitant rare...

Introduction: The most common type of diabetes in childhood is type-1 diabetes. The group of diabetes called MODY (maturity-onset diabetes of the young) is rarer. Mutations that occur in glucokinase gene cause disruption in the perception of the resultant glucose level and, consequently, impaired insulin release, leading to the development of MODY-2. In this case, resulting hyperglycemia is usually at a mild, non-progressive level and does not require insulin therapy. For this...

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...

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...

The weight of birth affects the weight status and fat distribution in the later period of life. It is suggested that both low and high birth weight pose a risk for cardiometabolic diseases. In this study, the effects of birth weight on body fat mass and body fat distribution parameters during childhood and adolescence period were evaluated.Method: In this cross-sectional study, 4581 children ages between 6-17 years at primary and secon...