hrp0082p1-d3-12 | Adrenals & HP Axis (1) | ESPE2014

Adrenal Rest Tumors in Patients with Primary Adrenal Insufficiency

Abali Zehra Yavas , Saka Nurcin , Erol Oguz Bulent , Aydin Banu Kucukemre , Guran Tulay , Bas Firdevs , Poyrazoglu Sukran , Bundak Ruveyde , Darendeliler Feyza

Background: Gonads containing adrenal rests may enlarge in response to chronic overstimulation by ACTH in diseases with ACTH hypersecretion such as poorly controlled congenital adrenal hyperplasia (CAH), Addison’s disease and Nelson’s syndrome. Testicular adrenal rest tumors (TART) are present in childhood in CAH patients and frequency in adults may be up to 50–95%. Ovarian adrenal rest tumors (ART) are less frequently detected. TART is decribed less in patients...

hrp0084p2-206 | Bone | ESPE2015

Hereditary Vitamin D-Resistant Rickets: Report of Four Cases with Successful Use of Intermittent Intravenous Calcium Via Peripheral Route

Abali Saygin , Tamura Mayuko , Atay Zeynep , Isguven Pinar , Guran Tulay , Haliloglu Belma , Bas Serpil , Isojima Tsuyoshi , Turan Serap , Kitanaka Sachiko , Bereket Abdullah

Background: Hereditary vitamin D-resistant rickets (HVDRR) is a rare disease caused by mutations in vitamin d receptor (VDR). Patients with HVDRR are usually treated with intravenous calcium (i.v.-Ca) therapy via a central catheter. However, central catheter-related complications can cause important morbidity. In this report, we described four patients with HVDRR from different families. In three of these cases we used a novel therapeutic regime of intermittent IV-Ca ...

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 ...

hrp0094p2-25 | Adrenals and HPA Axis | ESPE2021

Genotypic Sex and Severity of the Disease Determine the Time of Clinical Presentation in Steroid 17α-Hydroxylase/17,20-Lyase Deficiency

Kurnaz Erdal , Baykan Emine Kartal , Turkyılmaz Ayberk , Yaralı Oğuzhan , Yavaş Abalı Zehra , Turan Serap , Bereket Abdullah , Cayır Atilla , Guran Tulay ,

Context: Steroid 17α-hydroxylase/17,20-lyase deficiency (17OHD) is characterized by decreased sex steroids and cortisol, and excessive mineralocorticoid action. The clinical symptoms of hypocortisolemia are subtle.Aim: The clinical, biochemical, and molecular characteristics of patients with 17OHD were evaluated to determine the factors influencing the time of diagnosis and the management.Pati...

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 ...

hrp0097p1-420 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Exploring Childhood Hypoparathyroidism: Stepwise Genetic Evaluation Approach

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

Background: Primary hypoparathyroidism (HP) is a rare disease characterized by hypocalcemia, hyperphosphatemia and low/inappropriately normal parathyroid hormone (PTH) levels. We aim to characterize the clinical findings and molecular aetiology of childhood HP in our cohort.Method: DiGeorge-VCFS FISH analysis was performed on all patients (n=28) as the initial step after the diagnosis. In whom, FISH analysis was...

hrp0097p1-340 | Multisystem Endocrine Disorders | ESPE2023

Long-Term Endocrine Complications of Medulloblastoma and The Effect of Growth Hormone Therapy on Final Height

Kelestemur Elif , Helvacioglu Didem , Gurpinar Tosun Busra , Kahveci Ahmet , Kurt Ilknur , Yavas Abali Zehra , Haliloglu Belma , Guran Tulay , Bereket Abdullah , Turan Serap

Introduction: Medulloblastoma is the most common central nervous system tumour in children representing, approximately 20% of childhood brain tumours. Cure can be achieved with surgery, chemotherapy and radiotherapy. However, disease survivors encounter long term endocrine complications including short stature due to growth hormone (GH) deficiency and spinal radiotherapy.Patients and Methods: We aimed to investigate long...

hrp0097p1-530 | Multisystem Endocrine Disorders | ESPE2023

Anthropometric, clinical, and molecular genetic characteristics of 42 patients with RASopathies

Yavas Abali Zehra , Bilge Geckinli Bilgen , Eltan Mehmet , Kahveci Ahmet , Gurpinar Tosun Busra , Helvacioglu Didem , Guran Tulay , Bereket Abdullah , Turan Serap

Background: RASopathies are a group of diseases with common clinical features that occur as a result of pathogenic variants in genes encoding components of the RAS/MAPK pathway. The aim of this study was to evaluate the clinical and molecular features of RASopathy cases in our pediatric endocrinology unit.Subjects and Methods: The clinical and molecular data of 42 patients (18 girls) from 39 families were evaluated, retr...

hrp0097p2-190 | Adrenals and HPA Axis | ESPE2023

Evaluation of two cases with 46,XX and 46,XY karyotypes diagnosed with 17α-hydroxylase deficiency

Kurt Ilknur , Sagsak Elif , Murat Nurhan , Gurpinar Tosun Busra , Helvacioglu Didem , Yavas Abali Zehra , Kahveci Ahmet , Kelestemur Elif , Haliloglu Belma , Turan Serap , Bereket Abdullah , Guran Tulay

Introduction: 17α-hydroxylase deficiency (17OHD) is a rare form of congenital adrenal insufficiency characterized with decreased cortisol and sex steroid biosynthesis, overproduction of ACTH, and increased mineralocorticoids. The overproduction of corticosterone hinders the symptoms of glucocorticoid deficiency and causes sodium retention, hypertension, and hypokalemia in severe cases. Affected 46,XX and 46,XY individuals are phenotypically female in the...

hrp0097p2-46 | Thyroid | ESPE2023

Admission Characteristics and Rates of Transient/Permanent Hypothyroidism in Infants from Congenital Hypothyroidism Screening

Kahveci Ahmet , Helvacıoglu Didem , Kurt Ilknur , Kelestemur Elif , Gurpınar Tosun Busra , Yavas Abalı Zehra , Haliloglu Belma , Guran Tulay , Bereket Abdullah , Turan Serap

Introduction and Aim: In this study, we aimed to investigate the admission characteristics, the ratio of permanent/transient hypothyroidism, and the predictors of permanent or transient hypothyroidism at initial evaluation in newborns admitted in 2013 and 2014 from neonatal TSH screening program.Method and Results: During two years period, 985 babies were admitted to our clinic with screening results for evaluation, and ...