ESPE Abstracts

Introduction: Juvenile Paget's Disease(JPD) is an extremely rare disease of bone characterized by progressive painful bone deformities, fractures and increased bone turnover. Findings also include deafness, loss of vision, vascular calcification and aneurysm. Here, we report two siblings presented with recurrent fractures and diagnosed as JPD by very high alkaline phosphatase levels and radiographic findings. A novel homozygous mutation in the TNFRSF11B g...

Introduction: GLIS3 is a member of the GLI-similar zinc finger protein family encoding for a nuclear protein that maps to chromosome 9p24.3-p23. Mutations in GLIS3 have been reported in association with Neonatal diabetes mellitus and hypothyroidism syndrome. We aimed to present a case of congenital diabetes mellitus congenital hypothyroidism associated with a newly identified mutation in the GLIS-3 gene.Case Report: A se...

Allgrove’s or ‘4A syndrome’ is a rare autosomal recessive multisystem disorder characterised by adrenocorticotropin hormone resistant adrenal insufficiency,alacrima ,achalasia and neurological abnormalities. The disease-causing gene (AAAS) encodes a protein of 546 amino acids called ‘aladin’ (for alacrima-achalasia-adrenal insufficiency-neurologic disorder). We report two siblings and three cousins suffering from Allgrove syndrome in a Turkish family. ...

Background: Premature pubarche is a diagnosis of exclusion, and it is a benign period. Non-classic congenital adrenal hyperplasia (NC-CAH) is one of the most important causes in the differential diagnosis of premature pubarche.Objective and hypotheses: In this study it was aimed to evaluate the clinical and laboratory data, of 75 cases (five male, 70 female) diagnosed as premature pubarche. Additionally basal 17-hydroxyprogesterone levels determined as N...

Background: Type 1 diabetes mellitus (T1DM) is the most common endocrine disease in children and adolescents.Objective and hypotheses: It was aimed to evaluate the frequency of autoimmune thyroiditis (AT) and the possible risk factors for AT at diagnosis and at follow up of T1DM patients.Method: T1DM patients who were admitted to Trakya University Medical Faculty Pediatric Department, Pediatric Endocrinology Outpatient Clinic betwe...

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...

Aim: Oligo- or amenorrhea is one of the most important features of polycystic ovary syndrome (PCOS). Anti-Mullerien Hormone (AMH) plays an inhibitory role in follicular development and contributes to hyperandrogenism in PCOS. Our aim was to assess differences in serum AMH and androstenedione levels, and clinical characteristics between adolescent girls with and without oligomenorrhea.Participants and methods: Sixty-eight adolescent girls with oligomenorr...

Background: Skeletal mass approximately doubles at the end of adolescence. Socioeconomic Status (SES) and Vitamin D status may play a role in the development of bone mass.Objective and hypotheses: The aim of the present study is to examine the effects of different socioeconomic conditions on bone mineral density (BMD) and vitamin D status in healthy female college students and to determine the possible association between Vitamin D status and BMD.<p ...

Background: We aimed to investigate the differences of serum leptin, gonadotropin hormones levels on GnRH stimulation test, and pelvic ultrasound (US) findings between girls with idiopathic central precocious puberty (ICPP) and premature telarche (PT). Additionally, we aimed to determine correlations between leptin and other parameters.Method: Thirty-nine girls who had the breast budding before the age of 8 years and 19 healthy age-matched pre-pubertal g...

Background: Assessment of beta-cell function in type 1 diabetes (T1D) has important implications in both clinical and research settings. Studies are limited by the lack of adjustments demonstrating the extent to which puberty influences C-peptide levels. The aim of this study was to evaluate the influence of pubertal stage as well as age and body mass index (BMI) on multiple C-peptide measures at T1D diagnosis.Methods: T...