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...

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...

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 AlbrightÂ’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 ...

hrp0092p2-52 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

A rare cause of hypophosphatemia: Raine Syndrome

Eltan Mehmet , Ata Pinar , Kirkgoz Tarik , Alavanda Ceren , Betul Kaygusuz Sare , Seven Menevse Tuba , Gurpinar Tosun Busra , Abali Zehra Yavas , Helvacioglu Didem , Guran Tulay , Elcioglu H.Nursel , Bereket Abdullah , Turan Serap

Background: Raine Syndrome (RS) is characterized by hypophosphatemia and typical facial dysmorphic features. Subperiostal thickening and diffuse generalized osteosclerosis are the most common radiological findings. Biallelic loss of function mutations in FAM20Cgene cause RS and by reduction of the transcription of DMP1 leads to FGF23-related hypophosphatemia. Here we present a new case with RS.Case: A 9-month-ol...

hrp0092p3-202 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

A Case Of Syndromic Hypopituitarism

Kaygusuz Sare Betul , Arslan Ateş Esra , Kirkgöz Tarik , Eltan Mehmet , Abali Zehra Yavas , Helvacioğlu Didem , Seven Menevse Tuba , Tosun Busra Gurpinar , Tutar Engin , Volkan Burcu , Tuney Davut , Turan Serap , Bereket Abdullah , Guran Tulay

Objectives: Forkhead box A2 (Foxa2) is a transcription factor that plays a key role in foregut, pancreatic and central nervous system development. Here, we describe a 7 years old boy whose phenotype is consistent with FOXA2 defect.Case: A 3 months old boy was referred for recurrent hypoglycemic events. He was born to unrelated parents at term with a birth weight of 3690 gr. At 6 hours of life he had severe hypoglycemia (...

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...

hrp0097p1-34 | 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 ...

hrp0094p1-2 | Adrenal A | ESPE2021

Adrenocortical hormone profiles do not predict the molecular etiology in non-CAH primary adrenal insufficiency

Seven Menevse Tuba , Demirkol Yasemin Kendir , Tosun Busra Gurpinar , Bayramoglu Elvan , Yildiz Melek , Acar Sezer , Karaca Seda Erisen , Orbak Zerrin , Onder Asan , Sobu Elif , Anik Ahmet , Atay Zeynep , Bugrul Fuat , Demir Korcan , Dogan Durmus , Emeksiz Hamdi Cihan , Kirmizibekmez Heves , Murat Nurhan Ozcan , Yaman Akan , Turan Serap , Bereket Abdullah , Guran Tulay ,

Background: Primary adrenal insufficiency other than congenital adrenal hyperplasia (non-CAH PAI) is very uncommon in children but associated with a variety of molecular defects. Biosynthesis of adrenocortical hormones is reduced although the relation of steroid profiles with underlying molecular etiology is not yet studied.Objective: Investigation of clinical and steroid hormone profiles of a multicenter cohort of child...