hrp0086fc15.2 | Late Breaking | ESPE2016

Mutations in SGPL1, the Gene Encoding Sphingosine-1-Phosphate Lyase, Cause a Novel Form of Primary Adrenal Insufficiency with Steroid Resistant Nephrotic Syndrome

Prasad Rathi , Maharaj Avinaash , Meimaridou Eirini , VanVeldhoven Paul , Buonocore Federica , Barbagaleta Eliana , Bergada Ignacio , Cassinelli Hamilton , Das Urmi , Krone Ruth , Saleem Moin , Hacihamdioglu Bulent , Sari Erkan , Storr Helen , Achermann John , Guasti Leonardo , Braslavsky Debora , Guran Tulay , Ram Nanik , Metherell Lou

Background: Primary adrenal insufficiency (PAI) is most commonly congenital in children. PAI is genetically heterogeneous with some gene defects causing syndromic disease. A third of patients have no genetic diagnosis meaning their prognosis is uncertain. We recently investigated families with a novel combination of PAI and steroid resistant nephrotic syndrome.Objective and hypotheses: To discover the genetic defect underlying this syndrome.<p class=...

hrp0094p1-18 | Bone A | ESPE2021

A rare cause of hypercalcemia: Congenital Lactase Deficiency

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

Background: Congenital lactase deficiency (CLD) occurs as a result of loss of function of intestinal lactase-phlorizin hydrolase (LPH) encoded by LCT gene. Patients usually present with osmotic diarrhea in the first few days of life. Although the exact mechanism is not known, hypercalcemia is a common feature of CLD; with calcium levels up to 14 mg/dl and nephrocalcinosis have been reported. However, CLD is frequently overlooked in the differential diagnosis o...

hrp0094p1-49 | Sex Endocrinology and Gonads A | ESPE2021

Biallelic PPP2R3C mutations are associated with partial and complete gonadal dysgenesis in 46,XY and 46,XX individuals

Cicek Dilek , Warr Nick , Yesil Gozde , Eker Hatice Kocak , Bas Firdevs , Poyrazoglu Sukran , Darendeliler Feyza , Direk Gul , Hatipoglu Nihal , Eltan Mehmet , Tosun Busra Gurpinar , Kaygusuz Sare Betul , Menevse Tuba Seven , Turan Serap , Bereket Abdullah , Greenfield Andy , Guran Tulay ,

Context: PPP2R3C encodes the B”gamma regulatory subunit of the protein phosphatase 2A (PP2A), which is a serine/threonine phosphatase involved in the phospho-regulation processes of mammalian cells. We have recently reported homozygous and heterozygous mutations in PPP2R3C in patients with syndromic 46,XY complete gonadal dysgenesis (MEGD syndrome) and impaired spermatogenesis, respectively. In this study, we have further investigated th...

hrp0094p2-14 | Adrenals and HPA Axis | ESPE2021

Clinical and hormonal evolution of aldosterone synthase deficiency: Is complete remission possible?

Gurpinar Tosun Busra , Demirkol Yasemin Kendir , Menevse Tuba Seven , Kaygusuz Sare Betul , Ozbek Mehmet Nuri , Altincik Selda Ayca , Mammadova Jammala , Cayir Atilla , Doger Esra , Bayramoglu Elvan , Nalbantoglu Ozlem , Mutlu Gul Yesiltepe , Aghayev AghaRza , Turan Serap , Bereket Abdullah , Guran Tulay ,

Background: Aldosterone synthase de&filig;ciency (ASD) caused by mutations in the CYP11B2 gene is characterized by isolated mineralocorticoid deficiency. Data is scarce regarding clinical and biochemical outcomes of the disease in the follow-up.Objective: Assessment of the growth and steroid profiles of patients with ASD at the time of diagnosis and after termination of treatment.Design an...

hrp0094p2-196 | Fat, metabolism and obesity | ESPE2021

Machine Learning Quest for Predictive Markers of Lifestyle Modification Outcomes in Pediatric Obesity Treatment

Gawlik Aneta , Shmoish Michael , Bereket Abdullah , Wasniewska Malgorzata , Antosz Aleksandra , Kırkgoz Tarık , Turan Serap , Guran Tulay , Aversa Tommaso , Corica Domenico , Wudy Stefan A. , Hartmann Michaela F. , Gruszczynska Katarzyna , Hochberg Ze’ev ,

Context: The traditional approach to childhood obesity management is lifestyle modification/LSM. Nevertheless, the response rate is variable and difficult to predict.Aim: A systematic search for markers to predict outcomes of simple LSM in pediatric obesity management.Patients/Methods: Out of 240 children with obesity (BMI>97%), recruited to a prospective ‘multi-OMICS’ study granted b...

hrp0097rfc1.4 | Adrenals and HPA Axis | ESPE2023

Lack of NAD(P)+ transhydrogenase activity in patients with primary adrenal insufficiency due to NNT mutations

Francisco Annelise , Mine Yilmaz Goler Ayse , Daniele Carvalho Navarro Claudia , Onder Asan , Yildiz Melek , Kendir Demirkol Yasemin , Karademir Yilmaz Betul , Seven Menevse Tuba , Guran Tulay , Frigério Castilho Roger

Background: Mutations in the nicotinamide nucleotide transhydrogenase (NNT) gene are a rare cause of primary adrenal insufficiency (PAI), as well as cardiomyopathies and functional impairment of the gonads.Objective: Despite the description of different NNT mutations in homozygosis and compound heterozygosis in PAI patients, it remains to be clarified to which extent the function and expression of the m...

hrp0097p1-20 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Non-Osteogenesis Imperfecta Primary Osteoporosis in Children: Clinical and Genetic Features

Gurpinar Tosun Busra , Betul Kaygusuz Sare , Alavanda Ceren , Kahveci Ahmet , Kurt Ilknur , Kelestemur Elif , Yavas Abali Zehra , Helvacioglu Didem , Arman Ahmet , Guran Tulay , Bereket Abdullah , Ata Pınar , Turan Serap

Keywords: children, primary osteoporosis, next-generation sequencingBackground: Primary osteoporosis (POP) is a rare bone fragility disorder of childhood and is mainly related to osteogenesis imperfecta (OI). However, patients without clinical OI features with recurrent long bone and/or vertebral fractures who comply with the osteoporosis criteria are considered to have non-OI POP. Diagnosis and classification of non-OI ...

hrp0097p1-34 | Diabetes and Insulin | ESPE2023

Evaluation of Mitochondrial Bioenergetic Function in Mitochondrial and Type 1 Diabetes

Gurpinar Tosun Busra , Francisco Annelise , D. C. Navarro Claudia , Seven Menevse Tuba , Polat Hamza , Ozturk Hismi Burcu , Kahveci Ahmet , Turan Serap , Haliloglu Belma , Mine Yilmaz Ayse , Karademir Yilmaz Betul , Bereket Abdullah , F. Castilho Roger , Guran Tulay

Background and hypothesis: Mitochondrial disorders are multisystemic conditions associated with sensorineural hearing loss, encephalomyopathy, lactic acidosis, and non-autoimmune diabetes. The majority of molecular etiologies involve mutations in the genes encoding the oxidative phosphorylation system's components. Superoxide generation is significantly increased and causes oxidative damage in the affected tissues in these disorders. The establishment of ...

hrp0097p1-383 | Thyroid | ESPE2023

Clinical and molecular characteristics of 147 patients with primary congenital hypothyroidism: A single-center experience

Yavaş Abalı Zehra , Alavanda Ceren , Eltan Mehmet , Arslan Ateş Esra , Helvacioglu Didem , Gurpinar Tosun Busra , Kahveci Ahmet , Kurt İlknur , Keleştemur Elif , Guran Tulay , Bereket Abdullah , Turan Serap

Background: Next-generation sequencing (NGS) technologies have improved our knowledge about the genetic basis of congenital hypothyroidism (CH). The objective of our study was to evaluate the molecular genetic etiology in our primary CH cohort by using the NGS-based panel.Subjects and Methods: The clinical and genetic characteristics of 147 patients (61 female) from 129 unrelated families were evaluated. The patients wer...

hrp0089p1-p058 | Diabetes &amp; Insulin P1 | ESPE2018

Comprehensive Genetic Testing Shows One in Five Children with Diabetes and Non-Autoimmune Extra-Pancreatic Features Have Monogenic Aetiology

Patel Kashyap A , Colclough Kevin , Nuri Ozbek Mehmet , Yildiz Melek , Guran Tulay , Kocyigit Cemil , Acar Sezer , Siklar Zeynep , Atar Muge , Johnson Matt B , Flanagan Sarah E , Ellard Sian , Mine Cizmecioglu Filiz , Berberoglu Merih , Demir Korcan , Catli Gonul , Bas Serpil , Akcay Teoman , Demirbilek Huseyin , Weedon Michael N , Hattersley Andrew T

Background/Aim: Diabetes with extra-pancreatic features in children can have a monogenic aetiology. Single gene testing is undertaken when children present with the characteristic clinical features suggestive of the underlying aetiology. We aim to assess the utility of comprehensive genetic testing for all monogenic diabetes genes in children with diabetes and any non-autoimmune extra-pancreatic features from a population with a high rate of consanguinity.<p class="abstext...