ESPE Abstracts

Objectives: Forkhead box A2 (Foxa2) is a transcription factor that plays a key role in foregut, pancreatic and central nervous system development. Here, we describe a 7 years old boy whose phenotype is consistent with FOXA2 defect.Case: A 3 months old boy was referred for recurrent hypoglycemic events. He was born to unrelated parents at term with a birth weight of 3690 gr. At 6 hours of life he had severe hypoglycemia (...

Introduction: Policystic ovarian syndrome (PCOS); is an endocrinopathy characterised by overlap of hyperandrogenism and hyperinsulinism and chronic anovulation. Etiopathogenesis is still not clearly defined. Fetuin-A is aserum glycoprotein. It is shown to play regulatory functions in many inflammatory processes. We aim to define the relationship of fetuin-A levels with hyperandrogenism and hyperinsulinism in PCOS patients and study the role in pathophysiology....

Introduction: Turner Syndrome (TS) is known to be associated with a high risk of cardiac anomalies and cardiovascular diseases. Detailed cardiac evaluation at diagnosis and serial evaluation for dissection is warranted.Aim: This study aimed to evaluate TS patients for cardiac pathology using MRI.Methods: Clinical findings, karyotypes, echocardiogram results, cardiac MRI findings of 33 patients with TS were evaluated. Measurements o...

Background: No large study comparing efficiency of prednisolone, alendronate and pamidronate has been conducted so far in children with hypercalcemia due to vitamin D intoxication.Objective and hypotheses: To perform a multicentre, retrospective study assessing clinical characteristics and treatment results.Method: A standard questionnaire was uploaded to an online national database system (www.favorsci.org) to collect data of chil...

Background: Congenital lactase deficiency (CLD) occurs as a result of loss of function of intestinal lactase-phlorizin hydrolase (LPH) encoded by LCT gene. Patients usually present with osmotic diarrhea in the first few days of life. Although the exact mechanism is not known, hypercalcemia is a common feature of CLD; with calcium levels up to 14 mg/dl and nephrocalcinosis have been reported. However, CLD is frequently overlooked in the differential diagnosis o...

Keywords: children, primary osteoporosis, next-generation sequencingBackground: Primary osteoporosis (POP) is a rare bone fragility disorder of childhood and is mainly related to osteogenesis imperfecta (OI). However, patients without clinical OI features with recurrent long bone and/or vertebral fractures who comply with the osteoporosis criteria are considered to have non-OI POP. Diagnosis and classification of non-OI ...

Background: Next-generation sequencing (NGS) technologies have improved our knowledge about the genetic basis of congenital hypothyroidism (CH). The objective of our study was to evaluate the molecular genetic etiology in our primary CH cohort by using the NGS-based panel.Subjects and Methods: The clinical and genetic characteristics of 147 patients (61 female) from 129 unrelated families were evaluated. The patients wer...

Background: Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that requires accurate diagnosis and urgent treatment. Congenital adrenal hyperplasia is the most common cause of PAI in children. Non-CAH causes of PAI are relatively rare. Although several molecular causes have been found, it is emerging that considerable overlap in the clinical and biochemical features of these conditions exists.Objective and hypotheses: We inv...

Background: Primary adrenal insufficiency other than congenital adrenal hyperplasia (non-CAH PAI) is very uncommon in children but associated with a variety of molecular defects. Biosynthesis of adrenocortical hormones is reduced although the relation of steroid profiles with underlying molecular etiology is not yet studied.Objective: Investigation of clinical and steroid hormone profiles of a multicenter cohort of child...

Introduction: 11-beta hydroxylase deficiency(11β-OHaseD) is the second frequent congenital adrenal hyperplasia(CAH) form. This study aimed to determine demographic and genetic characteristics and final height, to evaluate the long term clinical follow-up of children&/adolescents with 11β-OHaseD.Material and Methods: The study is designed as a multicenter, national, retrospective. 60 cases from 11 Pediatric ...