hrp0092p3-8 | Adrenals and HPA Axis | ESPE2019

Typical Phenotype of Isolated Aldosterone Synthetase (AS) Deficiency in two Infants with Heterozygous AS Gene Mutation: Dilemma for Diagnosis

Ozsu Elif , Ceran Aysegul , Uyanik Rukiye , Bilici Esra , Cetin Tugba , Siklar Zeynep , Aycan Zehra , Berberoglu Merih

Introduction: Isolated hypoaldestronism is a rare endocrinopathy in a limited number of patients who secrete normal level of cortisol, due to mutation in CYP11B2. In some cases clinical diagnosis can be late and genetic analysis showed difficulties.Case 1: A 7 month-old girl infant was referred to endocrinology department due to womiting, failure to thrive and severe hyponatremia with unexplained neutropenia. She was bor...

hrp0094p2-69 | Bone, growth plate and mineral metabolism | ESPE2021

Evaluation of Admission Characteristics, Treatment and Follow-up Findings of Children with Primary Osteoporosis

Kizilcan Cetin Sirmen , Siklar Zeynep , Aycan Zehra , Ozsu Elif , Ceran Aysegul , Senyazar Gizem , Karaca Seda Erisen , Berberoglu Merih ,

Introduction: Primary osteoporosis (POP) is a rare and important problem in childhood that can cause serious skeletal deformities and morbidity. In this study, we aimed to reveal the spectrum of POP in childhood, and also to assess the effectiveness and safety of bisphosphonates in increasing BMD, reducing fractures, and improving quality of life.Method: Patients with POP and who received at least one course of pamidrona...

hrp0094p2-89 | Bone, growth plate and mineral metabolism | ESPE2021

Clinical Profile of Parathyroid Adenoma in Children and Adolescents: A single-center experience

Kizilcan Cetin Sirmen , Siklar Zeynep , Ozsu Elif , Aycan Zehra , Ceran Aysegul , Karaca Seda Erisen , Senyazar Gizem , Berberoglu Merih ,

Introduction: Parathyroid adenoma (PRAD) is less common than in adulthood, but its morbidity is higher in children. The typical presentation is incidentally discovered as asymptomatic hypercalcemia. We aimed to evaluate the clinical characteristics of PRAD and our clinical experience since the early disease is often asymptomatic.Method: From 2010-2020, all children diagnosed with PRAD at our institution ...