ESPE Abstracts

Background: Premature adrenarche (PA) is defined as the appearance of pubic and/or axillary hair before 8 years in girls and 9 years in boys.Objective and hypotheses: We aimed to evaluate the anthropometric measures, hormonal values of children with PA at time of diagnosis, distinguishing the patients with late onset congenital adrenal hyperplasia and to analyse the components of insulin resistance, obesity, hyperlipidemia, metabolic syndrome, menstrual ...

Objective: This study aims to reveal clinical, hormonal and ultrasound imaging features of patients treated with leuprolide acetate for diagnosis of precoccious puberty.Design: Retrospective analysis of patients with a diagnosis of central precoccious puberty and treated with leuprolide acetate between January 2008 and January 2013.Patients: 81 girls and two boys with early signs of puberty.Results: There was...

Background: Girls with Turner syndrome (TS) are inappropriately short for their parents’ heights; measured parental height is therefore useful in diagnosis.Objective and hypotheses: To examine the sensitivity of measured parental height in the diagnosis of TS; and to audit the frequency of parental height measurement in our clinic.Method: Case note review of all girls with TS attending our dedicated Turner clinic between 1989&...

Introduction: Prompt diagnosis in Prader-Willi syndrome (PWS) is important for counselling the family and thus pre-empt the hyperphagic phase of the condition.Objectives: To determine the key diagnostic features of PWS during the perinatal period and hence recommend strategies to ensure early diagnosis.Study design: Retrospective case note review with prospective questionnaire survey of birth details for the affected child and heal...

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/Aim: Diabetes with extra-pancreatic features in children can have a monogenic aetiology. Single gene testing is undertaken when children present with the characteristic clinical features suggestive of the underlying aetiology. We aim to assess the utility of comprehensive genetic testing for all monogenic diabetes genes in children with diabetes and any non-autoimmune extra-pancreatic features from a population with a high rate of consanguinity.<p class="abstext...

Iodine is an essential dietary micronutrient required for thyroid hormone synthesis and neurodevelopment in utero. Evidence of iodine insufficiency among British women is of particular concern in the context of pregnancy. The Mothers and Babies at Yorkhill (MABY) study is a Glasgow-based longitudinal cohort study assessing the iodine and thyroid status of pregnant women and their offspring.Pregnant women were recruited from antenatal clinics (20...

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...

Spondylo-epimetaphyseal dysplasia -ACAN (SEMD- ACAN) is a rare form of osteo-chondrodysplasia that represents a group of vertebral, epiphyseal, and metaphyseal dysplasia. This genetic condition is caused by biallelic loss-of-function mutations in the ACAN gene, which encodes for aggrecan, an essential component of the extracellular matrix in cartilage. Biallelic loss-of-function mutations in this gene result in a range of characteristic symptoms, including disproportionate sho...