ESPE Abstracts

Background: Adrenocortical carcinoma (ADCC) is a rare cancer in children and differs significantly in epidemiology, clinical characteristics, and biologic features from their counterparts in adults. Germline mutations of the TP53 tumor suppressor gene are associated with cancer predisposition in families with the Li-Fraumeni syndrome.Aim: To report a young girl with family a history of ADCC who presented with severe virilisation secondary to ADC...

Background: The melanocortin-4-receptor gene (MC4R) is a key regulator of energy homeostasis, food intake and body weight which has intensively been analyzed in molecular genetic obesity research. MC4R dysfunction in humans causes hyperphagia, impaired satiety and obesity.Objective and hypotheses: To identify MC4R mutations prevelance in Turkish obese children and adolescents.Method: Ninenty three pediatric and adolescent patients ...

Background: The main reason of decrement of growth in children with Prader-Willi Syndrome (PWS) is dysfunction of hypothalamo-hypophseal axis (HHA) and a decrease in the capacity of secretion of growth hormone (GH). In fact, in some cases, GH levels are normal, so there may be other factors in the etiology.Objective and hypotheses: In this study, 19 months old PWS case with growth failure is represented.Method: 13 months old male p...

Background: Childhood overt hypothyroidism is a chronic disease that affect many system adversely and requires treatment. However, subclinical hypothyroidism (SH),defined obvious cases, impacts on other systems are unknown and there is no common approach to be treated. Moreover, SH may continue for many years, before they become overt hypothyroidism. Cardiovascular system (CVS) is one of the host system, which hypothyroidism adversely affects. Epicardial adipose tissue thickne...

Introduction: Steroidogenic factor-1 (SF1/NR5A1) is a nuclear receptor, which regulates genes that have functions in the development of adrenal glands and gonads, reproduction, and other metabolic functions.Case presentation: A 20-day-old infant was admitted due to ambiguous genitalia. Physical examination revealed a 2×1 cm phallus, bifid scrotum, and hypospadias. Both gonads were palpable in the inguinal canal. Serum levels of adrenal androgens (17...

Background: Androgen insensitivity syndrome is the most common cause of 46,XY disorders of sex development. This condition is inherited in an x-linked recessive pattern and the most common causes are inactivating mutations in the androgen receptor (AR) gene.Objective and hypotheses: In this study, we report a novel AR gene mutation in an adolescent patient presenting with primary amenorrhea.Method: A 16-year-old p...

Introduction: Childhood hypophysitis (CH) is an extremely rare entity that has difficulties in definition and displays a wide variety of symptomatology. The volume and shape of pituitary gland may increase in physiological periods such as puberty and pregnancy, it may also change in various neuroendocrine and psychiatric diseases. It is important to distinguish physiological changes observed in the pituitary, especially in puberty, from hypophysitis.F...

Background: Monogenic defects are among the significant causes of early-onset non-syndromic severe obesity in childhood. Identifying the genetic cause of obesity can guide for treatment. The aim of our study is to investigate the clinical and biochemical features of patients with early-onset severe obesity and evaluate the underlying molecular diagnosis.Materials and Methods: A total of 39 patients (M/F: 22/17) with non-...

Aim: To describe the clinical pattern and laboratory characteristics at presentation of a group of children with type 1 diabetes mellitus living in the Northwest region (Trakya) of Turkey.Methods: The clinical and laboratory data of a total of 315 children who presented with newly diagnosed type 1 diabetes mellitus during a 12 year period (2006–2018) were retrospectively analyzed based on hospital records. The data were assessed by gender and age su...

Backround: Short stature (SS) is one of the common disorders referred for investigation of an endocrine disorder. The etiologies of SS vary and are commonly grouped into pathological and nonpathological disorders. Despite standard clinical and laboratory evaluation, a pathological diagnosis is not reached in 50–90% cases.Aim: The aim of this study was to determine the etiologies and decribe the characteristic of short stature patients who were follo...