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....

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...

hrp0092p1-176 | 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...

hrp0084p1-140 | Turner & Puberty | ESPE2015

Impaired Motor Function in Turner Syndrome: What is the Relationship to Performal Intelligence Scores?

Taskin Betul , Verhaak Chris , Essink Marlou , Kempers Marlies , Vinck Anja , Sanden Ria Nijhuis-van der , Velden Janielle van Alfen-van der

Background: Although motor performance is often impaired in patients with Turner syndrome, the exact prevalence of motor problems is unknown. Detailed studies on specific motor profiles are lacking and the exact relationship between performal IQ and motor function is unknown.Aims and objectives: 1. To describe motor performance in our population of children and adolescents with Turner syndrome including the differentiation in specific motor skill domains...

hrp0094p1-19 | Bone A | ESPE2021

Acetazolamide treatment in a patient with pseudohypoparathyroidism with venous calcification

Seven Menevse Tuba , Tosun Busra Gurpinar , Yavas Abalı Zehra , Helvacioglu Didem , Kaygusuz Sare Betul , Eltan Mehmet , Bugdayci Onur , Guran Tulay , Bereket Abdullah , Turan Serap ,

Context: Type 1A pseudohypoparathyroidism (PHP-1A) is characterized by target organ resistance to PTH and Albright’s hereditary osteodystrophy (AHO). Basal ganglia calcifications and subcutaneous ossifications can be seen in PHP-1A. Acetazolamide, a carbonic anhydrase inhibitor, causes metabolic acidosis by increasing bicarbonate excretion from the proximal renal tubule thereby diminish precipitation of calcium and phosphorus. Acetazolamide had been used ...

hrp0094p2-28 | Adrenals and HPA Axis | ESPE2021

An Adolescent Case With Adrenoleukodystrophy Diagnosed After Detection Of Leydig Cell Dysfunction

Okur Iclal , Cetinkaya Semra , Elmaogullari Selin , Kilic Mustafa , Yuksel Deniz , Emine Derinkuyu Betul , Karacan-Kucukali Gulin , Sakar Merve , Guleray-Lafci Naz , Savas-Erdeve Senay ,

Introduction: X-linked adrenoleukodystrophy (X-ALD) is an inherited peroxisomal disease characterized by beta oxidation disorder that causes the accumulation of very long chain fatty acids (VLCFA) in all tissues. It presents with clinical signs due to accumulation of VLCFA in brain white matter, testes, adrenal cortex and skin fibroblasts. Here, we will present a case applied to the outpatient clinic due to not going through puberty period and who was diagnose...

hrp0094p2-371 | Pituitary, neuroendocrinology and puberty | ESPE2021

Is quail egg a potential endocrine disruptor?

Surekli Karakus Ozlem , Arabaci Tamer Sevil , Nisva Levent Hilal , Betul Kaygusuz Sare , Turan Serap , Akakin Dilek , Guran Tulay , Caglayan Yegen Berrak , Bereket Abdullah ,

Aim: Quail egg (QE) consumption became popular among children for alleged health benefits. Based on our observation of premature thelarche (PT) in a few children who consumed QE, we investigated the relationship between QE and puberty by a clinical and an experimental studies.Method: In the clinical study, a questionaire was used to compare the frequency and amount of QE consumption (between 55 girls with PT (n ...