hrp0095p1-206 | Adrenals and HPA Axis | ESPE2022

Primary adrenal insufficiency in a patient with biallelic QRSL1 mutations

Dursun Fatma , Maras Genc Hulya , Mine Yılmaz Ayşe , Tas Ibrahim , Eser Metin , Pehlivanoglu Cemile , Karademir Yilmaz Betul , Guran Tulay

Background: Biallelic QRSL1 mutations cause mitochondrial “combined oxidative phosphorylation deficiency-40” (COXPD40). COXPD40 has been reported invariably lethal in infancy. Adrenal insufficiency was weakly reported and investigated among seven previously reported patients with COXPD40.Objective: We report clinical, biochemical, molecular, and functional characteristics of a patient with adrenal in...

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....

hrp0095p1-445 | Diabetes and Insulin | ESPE2022

Glucagon Response to Hypoglycemia During Extended Oral Glucose Tolerance Test in Children with Cystic Fibrosis and Comparing with Healthy Peers

Haliloglu Belma , Seven Menevse Tuba , Gürpınar Tosun Busra , Guran Tulay , Turan Serap , Ispir Turgay , Gokdemir Yasemin , Erdem Ela , Bereket Abdullah

Post-OGTT hypoglycemia is common in Cystic Fibrosis(CF). The aim of the study is to determine of the role of glucagon in the pathogenesis of hypoglycemia in CF patients. A 3-hour-OGTT was performed fifty-three subjects (44CF,9 age-matched controls). Sixteen (36.4%) subjects had normal glucose tolerance (NGT), 13 (29.5%) had isolated hypoglycemia (IsoHypo), 8 (18.2%) had hypoglycemia with abnormal glucose intolerance (Hypo+AGT), 5 (11.4%) had AGT and 2 (4.5%) had CFRD. After AG...

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...

hrp0092p1-116 | 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...