ESPE Abstracts

Objective: The aim of the study was to describe the etiologic diagnosis, clinical characteristics in children with 46,XX disorder of sexual development (DSD).Methods: The 86 46, XY patients were included the retrospective study. The definitive diagnosis was made by presentations and clinical findings, gonadal morphology and genital anatomy of patients, basal and stimulated hormone results, imaging methods, molecular gene...

Background: The GnRH-agonists are the drugs of choice for therapy of idiopathic-CPP. To assess two different GnRH-agonist (Leuprolide acetate: LA vs Triptorelin depot: TD) treatment effects on anthropometric measurements.Patients and methods: 74 girls with ICPP (mean age 33.8±8 years) were enrolled the study. Complaints had been begun before 8 years old. 50 girls underwent GnRH stimulation test. 58 girls with ICPP were followed up 18 months. Childre...

Objectives: Hypercalcaemia, hypothyroidism, and early puberty are the most common endocrine disorders defined in Williams-Beuren syndrome (WBS). Here, endocrine evaluation and long-term follow-up of seven patients with WBS are given.Methods: Data were obtained from patient’s medical records. WBS was diagnosed by demonstration of the deletion on chromosome 7 by using FISH method (7q11.23). OGTT were performed in four patients. Thyroid ultrasonography...

Background: B-Lymphocyte kinase gene (BLK) gene acts on insulin synthesis and secretion, and mapped locus on chromosome 8p23. Monogenic diabetes due to BLK gene mutation is very rare and it’s named as MODY11. We aimed to present differences in clinical, laboratory and treatment of the patients with BLK mutations.Methods: OGTT performed in six patients. A panel of 23 MODY genes was screened. Patients with BLK</e...

Background: Type 2 diabetes (T2DM) increases in parallel with obesity in childhood. T2DM can be associated with cardiovascular risk (CVR) even childhood.Objective: To investigate the presence of CVR criterions in children with T2DM and to detect CVR as the earliest age as possible.Method: This study enrolled 84 (58 Girls) children with T2DM. OGTT was performed in 47 children. Biochemical and hormonal analyses were performed in fast...

Background: Congenital hypothyroidism (CH) is the most important cause of preventable mental retardation. Therefore, screening programme has been using for early detection of hypothyroidism in our country since 2007.Objective: To compare clinical features of newborns with and without CH who were detected in screening programme between 2009 and 2014.Method: This study enrolled 710 (344 Girls) newborn referred from CH-screening progr...

Objective: Hyperthyroidism is rarely seen in the childhood. In this study, we evaluated the reference sign and symptoms and following laboratory and treatment results of the hyperthyroidism cases.Method: Data of the 78 patients were extracted from hospital records retrospectively. Patients’ height, weight, BMI and laboratory results at the time of diagnosis are recorded. Antithyroid drug doses at the 2th, 6th, 12th months after diagnoses are compare...

Background: Mutations in genes encoding type 1 procollagen (T1PC) and proteins responsible for posttranslational modifications of the T1PC heterodimer may result in brittle bone disorder osteogenesis imperfecta (OI). FKBP65 is a known chaperone for type I procollagen and encoded by FKBP10. Autosomal-recessively inherited epidermolysis bullosa simplex and moderately severe OI caused by FKBP10 mutation reported in consanguineous Turkish and Mexican families.</p...

Introduction: 21-Hydroxylase deficiency (21OHD) is the most common form of congenital adrenal hyperplasia (CAH). Clinical and laboratory findings vary depending on the enzyme activity.Case Report 1: A 2-month-old male infant referred as hypospadias. He was born at term from consanguineous parents with intrauterine growth retardation. The mother had no problem during pregnancy. The external genitalia had penoscrotal hypospadias with chordee and both teste...

Background: We presented 20-year follow-up of two patients with 11β- hydroxylase deficiency, one of them has novel mutation.Case 1: The male patient was diagnosed at the age of 9-months. He presented with penil growth and pubic hair. At diagnosis blood pressure was normal, his hormonal profile was distinctive of 11β-OHD, with elevated serum levels of 11-deoxycortisol (DOC 134 ng/ml, N: 0–1.18). Hydrocortisone was introduced immediately aft...