hrp0084p2-478 | Growth | ESPE2015

Comparison of the Turkish Growth Standards with the Who Standards

Abali Zehra Yavas , Bundak Ruveyde , Furman Andrezj , Gokcay Gulbin , Gunoz Hulya , Bas Firdevs , Darendeliler Feyza , Neyzi Olcay

Background: Growth standards are important tools in the monitoring of growth. In 2006 the World Health Organization (WHO) published new growth charts based on infants and young children living in optimal conditions in six countries and proposed that these and the NCHS data on North American children be accepted as standards for children in all countries throughout the world. Studies comparing country specific standards with WHO growth charts are therefore necessary.<p clas...

hrp0098p1-265 | Growth and Syndromes 4 | ESPE2024

Use of Vosoritide in Children with Achondroplasia - Real Life Experince

Kahveci Ahmet , Helvacıoglu Didem , Yavas Abalı Zehra , Tugba Canbaz Aylin , Gunay Aylin , Bereket Abdullah , Demircioglu Turan Serap

Aim and Method: Achondroplasia is the most common form of short-limbed dwarfism, characterized by mutations in the FGFR3 gene. Vosoritide, a C-type natriuretic peptide analog, has shown promise in promoting linear growth in children with achondroplasia. This study aims to present the real-life experiences of using vosoritide in children diagnosed with achondroplasia.Method and Results: A prospective study was conducted o...

hrp0098p2-85 | Diabetes and Insulin | ESPE2024

Clinical Characteristics and follow-up of Type 2 Diabetes in Children and Adolescents: A Single Center Experience

Güneş Nazlı , Helvacıoglu Didem , Gurpinar Tosun Busra , Yavas Abali Zehra , Guran Tulay , Haliloglu Belma , Bereket Abdullah , Serap Turan

Aim: This study aims to investigate the presentation characteristics, follow-up, and treatment modalities in children and adolescents diagnosed with Type 2 Diabetes (T2D).Materials and Methods: This retrospective chart review includes 50 patients aged 4-20 years diagnosed with T2D between February 2013 and October 2023 according to American Diabetes Association (ADA) criteria in pediatric endocrinology clinic of a univer...

hrp0098p2-304 | Late Breaking | ESPE2024

Basal Ganglia Calcification in Children with Hypoparathyroidism and Pseudohypoparathyroidism: Characterization of Relationships and Clinical and Laboratory Findings

Gurpinar Tosun Busra , Kurt Ilknur , Helvacioglu Didem , Yavas Abali Zehra , Guran Tulay , Bereket Abdullah , Jüppner Harald , Turan Serap

Background: Hypoparathyroidism (HP) and pseudohypoparathyroidism (PHP) are conditions associated with basal ganglia calcification (BGC) which is thought to be caused by high serum calcium-phosphorus product and inadequate management of hypocalcemia. Novel mechanisms have recently been proposed for phosphate sensing and transport. However, the exact pathophysiology of BGC remains to be elucidated.Objective: To gain furthe...

hrp0095p1-21 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Etiological analysis of hypophosphatemia: A single-center experience

Eltan Mehmet , Alavanda Ceren , Yavas Abali Zehra , Bayramoglu Elvan , Betul Kaygusuz Sare , Helvacioglu Didem , Gurpinar Tosun Busra , Seven Menevse Tuba , Ata Pinar , Guran Tulay , Bereket Abdullah , Turan Serap

Background: Hereditary hypophosphatemia (HH), is a rare condition related to decreased renal tubular phosphate reabsorption. Although X-linked hypophosphatemia (PHEX mutation) is the most frequent cause of HH, recent advances in the next-generation sequencing (NGS) techniques enable the identification of various genetic etiologies. Our study aims to determine the molecular etiology of patients with hypophosphatemia and to identify new candidate genes....

hrp0095p1-193 | Thyroid | ESPE2022

Diagnostic Features and Risk Factors for Childhood Thyroid Cancers

Sahin Pinar , Gurpinar Tosun Busra , Cemal Yumuşakhuylu Ali , Guran Tulay , Helvacioglu Didem , Yavas Abali Zehra , Haliloglu Belma , Oysu Cagatay , Bereket Abdullah , Turan Serap

A worldwide increase in pediatric thyroid cancers incidence over the years has been observed. Although pediatric thyroid cancers tend to have a more aggressive course compared to adults, the survival rate is better. In this study, we aimed to examine the demographic, clinical, pathological, and laboratory characteristics, prognostic and risk factors of children with thyroid cancer.Methods: We retrospectively analyzed 39 children with thy...

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...

hrp0092p1-134 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Targeted Panel Gene Sequencing for Identification of Genetic Etiology of 46,XY Disorders of Sex Development

Poyrazoglu Sukran , Toksoy Guven , Aghayev Agharza , Karaman Birsen , Avci Sahin , Altunoglu Umut , Yildiz Melek , Abali Zehra Yavas , Bas Firdevs , Basaran Seher , Uyguner Oya , Darendeliler Feyza

Background: Disorders of sex development (DSD) vary phenotypically and are caused by a number of genetic etiologies. Although several genetic abnormalities have been discovered through genetic analyses, the underlying genetic causes of 46, XY DSD remain unknown in most of the casesAim: To identify genetic defects in patients with 46,XY DSD.Material and Methods: A total 76 DSD patie...

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...