hrp0092p1-3 | Adrenals and HPA Axis | ESPE2019

Simplifying the Interpretation of Steroid Metabolome Data by a Machine-Learning Approach

Kirkgoz Tarik , Kilic Semih , Abali Zehra Yavas , Yaman Ali , Kaygusuz Sare Betul , Eltan Mehmet , Turan Serap , Haklar Goncagul , Sagiroglu Mahmut Samil , Bereket Abdullah , Guran Tulay

Background: Liquid chromatography-mass spectrometry (LC-MS) based panels of steroid hormones and their precursors offer a distinct pattern of steroid metabolome for various disorders of adrenal and gonadal steroidogenesis. However, it may not be easy to handle this high throughput data rapidly in clinical setting which requires expert opinion for correct interpretations. Analytical results of steroid panelling can be allied to automated review systems to simpl...

hrp0092p1-116 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

How to Approach Systemic Hypersensitivity reactions to Gonadotropin Releasing Hormone Analogues during treatment of Central Precocious Puberty

Kirkgoz Tarik , Karakoc Elif Aydiner , kiykim ayca , Bugrul Fuat , helvacioglu didem , eltan sevgi bilgic , kasap nurhan , ozen ahmet , baris safa , guran Tulay , bereket abdullah , turan serap

Background: Hypersensitivity reactions to gonadotropin releasing hormone analogues (GnRHa) is a rare but serious side effect . Besides, local reactions, urticaria, anaphylaxis, serum disease, Henoch Schonlein Purpura (HSP) have been reported during GnRHa treatment.. Clinicians should be aware of the potential association of GnRHa with systemic hypersensitivity reactions.Case reports: Here, we report nine girls with syste...

hrp0092p1-159 | Adrenals and HPA Axis (1) | ESPE2019

Characteristics of puberty, pubertal height gain and final height in children with classical 21 hydroxylase deficiency

Abali Zehra Yavas , Yildiz Melek , Bas Firdevs , Onal Hasan , Abali Saygin , Cilsaat Gizem , Uyguner Zehra Oya , Turan Serap , Darendeliler Feyza , Bereket Abdullah , Guran Tulay

Context: There is a limited data from large cohorts regarding pubertal characteristics of children with classical 21-hydroxylase deficiency(21OHD).Objective: To explore the timing and tempo of puberty, and pubertal height gain(PHG) in children with 21OHD-CAH.Design: A multicenter observational, retrospective, longitudinal analysis.Patients: D...

hrp0092p1-176 | Bone, Growth Plate and Mineral Metabolism (1) | ESPE2019

Genotype and Phenotype Characterization of Turkish Patients with Vitamin D Dependent Rickets Type IA

Kaygusuz Sare Betul , Ata Pinar , Kirkgoz Tarik , Abali Zehra Yavas , Eltan Mehmet , Tosun Busra Gurpinar , Menevse Tuba Seven , Helvacioglu Didem , Guran Tulay , Arman Ahmet , Bereket Abdullah , Turan Serap

Background: Vitamin D Dependent Rickets Type IA (VDDR-IA) is the most common type of VDDR and caused by mutations in CYP27B1. Here, we aimed to analyze the genotypic and phenotypic features of our VDDR-IA patients.Materials and Methods: The patients with a clinical diagnosis of VDDR-IA were enrolled and analyzed for CYP27B1 gene mutations.Results: 12 (5 males) pat...

hrp0092p1-402 | Pituitary, Neuroendocrinology and Puberty (2) | ESPE2019

Evaluation of Brain Mri Lesions in 381 Girls with Central Precocious Puberty

Helvacioglu Didem , Guran Tulay , Kirkgoz Tarik , Atay Zeynep , Abali Zehra Yavas , Eltan Mehmet , Kaygusuz Sare Betul , Seven Tuba , Gurpinar Busra , Turan Serap , Bereket Abdullah

Central precocious puberty (CPP) in girls is a diagnosis increasingly made by the Pediatric Endocrinologists worldwide. Although it is most frequently of idiopathic origin, magnetic resonance imaging (MRI) of the brain is recommended to rule out organic lesions causing CPP. However, controversy exists regarding the age limits for routinely performing MRI in girls with CPP.Objective: To evaluate the outcome of brain MRI in girls diagnosed...

hrp0092p2-25 | Adrenals and HPA Axis | ESPE2019

Cushing Syndrome due to an Adrenacortical Carcinoma in a Baby with Atypical Beckwith-Wiedemann Syndrome

Eltan Mehmet , Cerit Kivilcim , Kaygusuz Sare Betul , Ates Esra , Eker Nursah , Bagci Pelin , Ergelen Rabia , Turan Serap , Bereket Abdullah , Guran Tulay

Beckwith-Wiedemann syndrome (BWS) is a congenital tumor-predisposition syndrome of which around 70% develops because of the methylation defects in the imprinted genes at chromosome 11p15.5. KCNQ1OT1 hypomethylation is the most common underlying genetic aberration in sporadic the BWS, accounting for 50% of the sporadic cases but confers the least tumor risk. We present a 5 month-old girl who presented with an excessive weight gain, cushingoid face, arrested gro...

hrp0086p1-p109 | Bone & Mineral Metabolism P1 | ESPE2016

Nonsense Mutation in SPARC Gene Causing Autosomal Recessive Ostegenesis Imperfecta

Abali Saygin , Arman Ahmet , Atay Zeynep , Bas Serpil , Cam Sevda , Gormez Zeliha , Demirci Huseyin , Alanay Yasemin , Akarsu Nurten , Bereket Abdullah , Turan Serap

Background: Osteogenesis imperfecta type XVII (OI17) (MIM#182120) have been described recently due to mutation in secreted protein, acidic, cysteine-rich (SPARC) gene located on 5q33.1.Objective and hypotheses: Here we report a novel mutation in SPARC causing OI17.Case: Two siblings presented to our clinic at the age of 10.3 and 0.5 years old. Parents were consanguineous. The older one was born with birth weight &...

hrp0086p1-p131 | Bone & Mineral Metabolism P1 | ESPE2016

Frequency of Recessive Osteogenesis Imperfecta in a Turkish Cohort and Genetic Causes

Abali Saygin , Arman Ahmet , Atay Zeynep , Bereket Abdullah , Bas Serpil , Haliloglu Belma , Guran Tulay , Gormez Zeliha , Demirci Huseyin , Akarsu Nurten , Turan Serap

Background: Osteogenesis imperfecta (OI) is a heterogeneous group of brittle bone disease mostly caused by quantative or qualitative defects in type I collagen. In most populations, more than 90% of the patients with OI have dominant mutations in COL1A1 or COL1A2 genes (AD-OI). Less than 10% of the cases have recessive inheritance (AR-OI). Currently 12 genes have been identified as a cause of AR-OI.Objective and hypotheses: We assumed h...

hrp0086p1-p813 | Syndromes: Mechanisms and Management P1 | ESPE2016

Reconsideration of Mid-Parental Height Calculation

Bereket Abdullah , Bugur Ibrahin Sinan , Guran Tulay , Atay Zeynep , Ekberzade Azad , Gurbanov Ziya , Oge Ece , Tas Cektar Seyid Riza , Turan Serap , Furman Andrzej

Background: Estimation of the child’s genetic height potential (target height) is an important tool in evaluating growth disorders. Midparental height (MPH) calculated as (Mothers height+Fathers height)/2±6.5 cm), used for this purpose, represents the child’s expected height based on parental heights.Objective and hypotheses: To evaluate the classical MPH calculations for our population and to explore the optimal MPH model using different ...

hrp0086p1-p826 | Syndromes: Mechanisms and Management P1 | ESPE2016

Etiologic Distribution and Characteristics of Patients with Short Stature in a Pediatric Endocrinology Clinic

Ozcan Sibel , Abali Saygin , Atay Zeynep , Haliloglu Belma , Bas Serpil , Ozturk Gamze , Cam Sevda , Akcay Teoman , Guran Tulay , Bereket Abdullah , Turan Serap

Background: Short stature (SS) is one of the most frequent reasons for referral to pediatric endocrinology clinics.Objective and hypotheses: We aimed to analyse the etiological factors of SS, in patients of our clinic, who are referred from general paediatrics with high likelihood of endocrinological problems after primary screening.Method: 1519 patients (693F) with height <3% were included. Clinical, anthropometric, radiologic...