hrp0095p2-271 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Wide phenotypical spectrum with the same karyotype: Mixed gonadal dysgenesis

Seven Menevse Tuba , Gurpinar Tosun Busra , Helvacioglu Didem , Yavas Abali Zehra , Kirmizibekmez Heves , Dursun Fatma , Turan Serap , Bereket Abdullah , Guran Tulay

Context: The 45,X/46,XY mosaicism poses a great clinical challenge influencing gonadal development, histology, hormonal balance, and growth. Patients present a wide spectrum of phenotypes with varying degrees of genital ambiguity from Turner Syndrome to male. Here, we present five children with 45,X/46,XY mosaicism presenting with different clinical phenotypes.Case Descriptions:Case 1:</str...

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...

hrp0092p1-159 | 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...

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 &amp; 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-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...

hrp0084p2-206 | Bone | ESPE2015

Hereditary Vitamin D-Resistant Rickets: Report of Four Cases with Successful Use of Intermittent Intravenous Calcium Via Peripheral Route

Abali Saygin , Tamura Mayuko , Atay Zeynep , Isguven Pinar , Guran Tulay , Haliloglu Belma , Bas Serpil , Isojima Tsuyoshi , Turan Serap , Kitanaka Sachiko , Bereket Abdullah

Background: Hereditary vitamin D-resistant rickets (HVDRR) is a rare disease caused by mutations in vitamin d receptor (VDR). Patients with HVDRR are usually treated with intravenous calcium (i.v.-Ca) therapy via a central catheter. However, central catheter-related complications can cause important morbidity. In this report, we described four patients with HVDRR from different families. In three of these cases we used a novel therapeutic regime of intermittent IV-Ca ...

hrp0084p2-410 | GH &amp; IGF | ESPE2015

Response to GH Treatment in the Very Young with GH Deficiency

Cetinkaya Semra , Poyrazoglu Sukran , Aycan Zehra , Siklar Zeynep , Berberoglu Merih , Atay Zeynep , Bereket Abdullah , Ercan Oya , Mengen Eda , Demirel Fatma , Darcan Sukran , Darendeliler Feyza

Aim: Data on response to GH treatment in the very young children with GH deficiency is scarce. The aim of this study was to evaluate the growth response in such children in a national multicentre study and to analyse the factors affecting the growth response.Materials and methods: In this study, we retrospectively evaluated the files of GH deficiency patients who had started GH treatment between 0–3 years of age who were being followed in 14 differe...

hrp0094p2-176 | Fat, metabolism and obesity | ESPE2021

Exploring Urinary Bile Acids as Potential Markers of Metabolism: Reference Values in Children by Targeted LC-MS/MS

Schauermann Marcel , Wang Rong , Hartmann Michaela F. , Remer Thomas , Hua Yifan , Shmoish Michael , Bereket Abdullah , Wasniewska Malgorzata , Hochberg Ze’ev , Gawlik Aneta , Wudy Stefan A. ,

Bile acids (BA) are C24 steroids synthesized from cholesterol in liver. Originally, they were mainly considered to function as emulsifiers supporting resorption of lipophilic food compounds and excretion of metabolic products. Recently, their additional biological and endocrine functions in the regulation of metabolism have aroused interest of researchers. In contrast to BA in blood, it is surprising that hardly any data exist on BA in the most accessible human biof...