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: Adrenal insufficiency is an important and potentially life-threatening condition, and it is also known as a rare cause of hypercalcaemia.Objective and hypotheses: Resistant hypercalcemia may be associated with hypocortisolism.Method: A 18-day-old male infant was born at 36 weeks by emergency cesarean section for fetal distress and intrauterine growth retardation. He was referred to paediatric endocrinology because of th...

Background: Ovotesticular disorder of sexual development (DSD is a rare form of DSD in which both testicular and ovarian tissues are present in the same individual either in a single gonad (ovotestis) or in opposite gonads with a testis and an ovary on each side.Objective and hypotheses: To discuss rare cases of ovotesticular DSD and one of the novel findings of these cases.Methods and patients: Case 1 is the first child of unrelat...

Background: Mutations in the 21-hydroxylase gene (CYP21A2) accounts for 90–95% of all congenital adrenal hyperplasia (CAH) cases. There is a strong relationship between genotype and disease severity.Objective: The aim of the study was to investigate the most frequent known mutations in CYP21A2 and to describe the genotype-phenotype correlation in Turkish children with CAH due to 21-hydroxylase deficiency.Methods: Based on clin...

Background: The age limit for precocious puberty (PP) in girls is a topic that continues to be debated, and there is a new trend that supports the idea that the beginning of breast development in girls between ages 6 and 8 should not be accepted as true PP and it is necessary to label this clinical condition as accelerated puberty or early normal puberty.Objective and hypotheses: The aim of the current study is to determine the diagnostic criteria for gi...

Background: Congenital adrenal hyperplasia (CAH) is the most common form of primary adrenal insufficiency in children. 21-hydroxylase enzyme deficiency (21-OHD) occurs in 90–95% of all cases of CAH. Despite it being a treatable condition, if unrecognized, CAH may present with life-threatening cardiovascular collapse. Mortality in the first years is reported to be higher than in the general population. Neonatal screening for CAH is effective in detecting the salt-wasting f...

Background: Thyroid cancer is a very rare malignancy of childhood. Approximately they account for 1.5% of all cancers before 15 years of age. In our country, this rate is %0.4 before 20 years of age.Aims and objectives: To analyses the clinical features and treatment results of children with thyroid malignancy in Turkey.Methods: In this multicentric and retrospective study the demographic and clinical characteristics of 124 childre...

Background: Diagnosis and treatment of GH deficiency(GHD) in children are different between countries, and even among centres in the same country.Objective and hypotheses: To evaluate current practices in diagnosis and treatment of GHD in the process of preparing the new consensus on GHD by Turkish Society for Pediatric Endocrinology and Diabetes.Method: A questionnaire was sent out to all paediatric endocrinology centres.<p cl...

Introduction: Short stature is a common manifestation of Noonan syndrome (NS). GH deficiency, GH insensitivity, and neurosecretory dysfunction have been reported in the literature. The optimal GH treatment for NS is still controversial. In this study, we aimed to evaluate the growth characteristics in addition to clinical features of NS, and the growth response to GH treatment by using a nationwide registration system.Material and methods: Children and a...

Background: Children with Turner syndrome (TS) have a specific growth pattern that is quite different from that of healthy children. Many countries have population specific growth charts for TS.Objective and hypotheses: Considering national and ethnic differences, we undertook this multicentered collaborative study to construct growth charts and reference values for height, weight, and BMI from birth to adulthood for spontaneous growth of Turkish girls w...