hrp0082p2-d2-272 | Adrenals & HP Axis (1) | ESPE2014

Timing of precocious pubarche in girls: Does a contemporary subgroup exist?

Tahmiscioglu Feride , Ercan Oya , Ozcabi Bahar , Evliyaoglu Olcay

Background: In 2012, a phenomenon of early isolated gonadotropin-independent thelarche among contemporary girls was reported.Objective and hypotheses: We wanted to evaluate whether a contemporary isolated early pubarche also exists. One way of looking into this is by investigating the age of pubarche in a group of girls with premature pubarche (PP) over time. If some girls had earlier pubarche, then, we would expect a subgroup (i.e. those younger than 8 ...

hrp0082p2-d2-597 | Thyroid (1) | ESPE2014

Thyroid Nodules in Childhood and Adolescence; Clinical, Radiologic and Etiological Evaluation

Evliyaoglu Olcay , Ozcabi Bahar , Tekin Ayse , Bucak Feride , Ercan Oya

Background: Thyroid nodules are less common in childhood but it has higher risk of malignancy. In this study, we aimed to evaluate children and adolescents with thyroid nodules, clinically, radiologically and histopathologically to determine etiologic distrubution.Method: Seventy-one patients (46 females) with the mean age of 10.41±5.03 (0.04–21) years with thyroid nodules were involved in this study. Patients were evaluated by their complaints...

hrp0089p1-p110 | Fat, Metabolism and Obesity P1 | ESPE2018

Lipid Accumulation Product is a Predictor of Non-alcoholic Fatty Liver Disease in Childhood Obesity

Ozcabi Bahar , Demirhan Salih , Akyol Mesut , Akay Hatice Ozturkmen , Guven Ayla

Objectives: We aimed to evaluate the performance of lipid accumulation product (LAP) to predict non-alcoholic fatty liver disease (NAFLD) in obese children.Methods: Eighty obese chidren (39 girl) were included in this study (6–18 years). Height, weight, body mass index (BMI), waist circumference (WC), puberty stage, blood pressure (n=28), fasting glucose, fasting insulin, HOMA-IR, alanine aminotransferase (ALT), aspartate aminotransferase (...

hrp0082p2-d3-308 | Bone (2) | ESPE2014

A Case of Vitamin D Dependent Rickets Type 1 with a Novel Mutation in CYP27B1 (25-OH Vitamin D-1-α-Hydroxylase) Gene

Ozcabi Bahar , Evliyaoglu Olcay , Ercan Oya , Tahmiscioglu Feride , Jaferova Sevinc , Oruc Cigdem , Adrovic Amra

Background: Vitamin D dependent type 1 rickets is a rare, autosomal-dominantly inherited disorder due to an inactivating mutation in CYP27B1 (25-OH vitamin D-1-α-hydroxylase) gene. It is characterized by early onset of rickets with hypocalcemia. We report a boy admitted with symptoms of hypocalcemia and who carried a novel mutation in CYP27B1 gene.Case: The patient was admitted with tetany at the age of 12 months. When he had his first convulsion, h...

hrp0084p3-595 | Adrenals | ESPE2015

Three Siblings with Corticosterone Methyloxidase Deficiency Type 2 due to c.1175T>C Mutation +a Novel c.788T>A Mutation in CYP11B2 Gene

Ozcabi Bahar , Evliyaoglu Olcay , Ercan Oya , Bucak Feride Tahmiscioglu , Adrovic Amra , Ceylaner Serdar

Background: Corticosterone methyloxidase deficiency (CMOD) type 2 is an autosomal recessive disorder which presents with salt loss and failure to thrive in early childhood. We present three siblings with CMOD type 2 whose genetic analyses revealed a known c.1175T>C mutation (homozygous) and a novel c.788T>A mutation (homozygous) in CYP11B2 gene.Case 1: The patient was admitted with salt loss and failure to thrive at the age of 6 months; ...

hrp0084p3-935 | GH & IGF | ESPE2015

Do IGF1 Generation Test Results Predict 1st-Year Growth Response to GH Treatment in Idiopathic Short Stature?

Masoom Mohammad Ajmal , Ercan Oya , Bucak Feride Tahmiscioglu , Ozcabi Bahar Taskin , Evliyaoglu Olcay

Background: It is well-known that human GH (hGH) treatment increases growth rate in idiopathic short stature (ISS) in the short term which might predict the overall height gain. However,the fact that ISS might involve a heterogeneous group of individuals with individual benefits from hGH treatment makes the decision to treat or not to treat difficult.Objective and hypotheses: The aim of this study was to investigate retrospectively whether an IGF1 genera...

hrp0097p2-192 | Adrenals and HPA Axis | ESPE2023

Neonatal CAH screening in patients with rare causes of inherited primary adrenal insufficiency

Kurt Ilknur , Eser Metin , Kahveci Ahmet , Ucar Ahmet , Bulus Derya , Ozcabi Bahar , Guran Tulay

Background and objective: 21alpha-hydroxylase deficiency congenital adrenal hyperplasia (21OHD-CAH) is the most common etiology of inherited primary adrenal insufficiency (PAI) in children. Neonatal CAH screening is important for early diagnosis of salt-wasting 21OHD and other virilizing CAH (11beta-hydroxylase, 3beta-hydroxysteroid dehydrogenase deficiencies) and for avoiding mortality, especially in salt-wasting CAH. Neonatal CAH screening has become nationw...