hrp0086rfc1.5 | Adrenals | ESPE2016

A Novel Animal Model to Study 21-Hydroxylase Deficiency in vivo

Zaucker Andreas , Griffin Aliesha , Storbeck Karl-Heinz , Guran Tulay , Thakur Nazia , Weger Meltem , Taylor Angela , Mueller Ferenc , Krone Nils

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is caused by mutations in the CYP21A2 gene. Steroid 21-hydroxylase deficiency results in impaired synthesis of mineralcorticoids and glucocorticoids (GC), plus androgen excess. Hormonal imbalances in 21OHD are postulated to result in systemic transcriptomic and metabolomic alterations. Such perturbations are likely to be underlying co-morbidities, which are increasingly observed in individua...

hrp0086p2-p305 | Diabetes P2 | ESPE2016

Thiamine Responsive Megaloblastic Anemia Due to SLCA19A2 Gene Mutation: Another Cause of Neonatal Diabetes with Succcesfull Switch from Insulin to Thiamine

Bas Serpil , Akbarzade Azad , Atay Zeynep , Gurbanov Ziya , Guran Tulay , Turan Serap , Franco Elisa De , Ellard Sian , Bereket Abdullah

Itroduction: Thiamine responsive anemia (TRMA) known as Rogers syndrome; is an early-onset, autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Diabetes in this condition is well described in infancy but has only very rarely been reported in association with neonatal diabetes.Case: 3-months old male patient with neonatal diabetes was admitted to our outpatient clinic because of uncontrolled hy...

hrp0084p2-200 | Adrenals | ESPE2015

A Novel Mutation (c.delG209) in the Proopiomelanocortin Gene in a Child with Early-onset Obesity

Cetinkaya Semra , Guran Tulay , Kurnaz Erdal , Keskin Meliksah , Sagsak Elif , Erdeve Senay Savas , Buonocore Federica , Aycan Zehra

Background: Proopiomelanocortin (POMC) deficiency is characterized by early-onset obesity, adrenal failure, red hair and pale skin. The first genetic mutation in the POMC gene was demonstrated in 1998. This disorder is rare, but has increased our insight into the important role of the leptin-melanocortin pathway in energy balance. POMC deficiency causes obesity due to the inadequate production of alpha and beta MSH from POMC, which normally activate the melanocortin 3 receptor...

hrp0097rfc14.1 | Late Breaking | ESPE2023

Clinical characteristics of patients presented with primary adrenal insufficiency due to a p.R451W mutation in the CYP11A1 gene

Çayır Atilla , Demirbilek Huseyin , Nuri Ozbek Mehmet , Kurt lknur , Karaoglan Murat , Albayrak Serpil , Nuri Dundar Bumin , Guran Tulay

Background and objective: The first and rate-limiting step of steroidogenesis is the conversion of cholesterol to pregnanolone which is catalyzed by the P450scc side chain cleavage enzyme (encoded by CYP11A1 gene-SCC). Homozygous recessive mutations of the CYP11A1 gene cause a global steroid hormone deficiency thereby disorders of sexual development in 46, XY individuals with a variable phenotype depending on the mutation characteristics. About 60 cases of SCC...

hrp0097p2-66 | Diabetes and Insulin | ESPE2023

Physician and Family Awareness in the Diagnostic Process of Newly Diagnosed Type-1 Diabetes Mellitus

Kahveci Ahmet , Helvacıoglu Didem , Kelestemur Elif , Kurt Ilknur , Turan Serap , Guran Tulay , Bereket Abdullah , Haliloglu Belma

Aim and Method: Diagnosis of type 1 diabetes (T1DM) may be delayed in some children, despite seeking medical care by the family. In this prospective/observational study, the time and process from consulting with a doctor to getting diagnosed with diabetes was investigated in patients hospitalized for newly diagnosed T1DM between 2021-2022.Results: During the study period total of 114 newly diagnosed T1DM patients (49%F, ...

hrp0097p2-184 | Diabetes and Insulin | ESPE2023

An Obese HNF1β Case Presenting with Diabetic Ketoacidosis

Kahveci Ahmet , Kaplan Gunay , Arslan Ateş Esra , Bilge Geckinli Bilgen , Guran Tulay , Turan Serap , Bereket Abdullah , Haliloglu Belma

Background: Hepatocyte nuclear factor 1β (HNF1β) is a critical transcription factor that regulates the development of the kidneys, pancreas, liver and genital tract. Patients with deletions and mutations in the HNF1 β gene present with renal and extrarenal manifestations. The most important extrarenal finding is diabetes, also known as MODY5. Although it is generally diagnosed with hyperglycemia, diabetic ketoacidosis is rarely seen.<p class...

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...