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 ...

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...

hrp0098rfc3.6 | Pituitary, Neuroendocrinology and Puberty 1 | ESPE2024

Final Height and Endocrine Complications in Children with Pilocytic Astrocytomas: A Retrospective Study

Tugba Canbaz Aylin , Helvacioglu Didem , Gurpinar Tosun Busra , Yavas Abali Zehra , Sahin Yener , Guran Tulay , Bereket Abdullah , Dagcinar Adnan , Turan Serap

Background/aims: Pilocytic astrocytomas (PA) are low-grade neoplasms that affect the precortical visual pathway and are most commonly detected in children and adolescents, representing 2–5% of childhood central nervous system (CNS) tumours. Optic gliomas (OPGs) can occur sporadically, or in association with neurofibromatosis type 1 (NF1). We assessed the prevalence of endocrine dysfunction in children with PA and evaluated outcomes between subgroups of P...

hrp0098rfc4.6 | Adrenals and HPA Axis 1 | ESPE2024

Machine Learning-Based Decision Tree Model for the Diagnosis of Congenital Disorders of Adrenal Steroidogenesis Using LC-MS/MS-based Plasma Steroid Hormone Profiles

Noyan Erçetin Atam , Gurpinar Tosun Busra , Kirkgoz Tarik , Yavas Abali Zehra , Eltan Mehmet , Akbarzade Azad , Yaman Ali , Turan Serap , Bereket Abdullah , Yalcin Arga Kazim , Guran Tulay

Background: Congenital disorders of adrenal steroidogenesis (CDAS) result in various adverse clinical outcomes including adrenal insufficiency, hypertension, androgen excess, or differences in sex development, depending on the specific enzyme deficiency involved. Rapid and precise diagnosis of these conditions facilitates improved short-term and long-term clinical management. The requirement for clinical expertise may lead to delays in the diagnostic process.<...

hrp0098rfc8.2 | Adrenals and HPA Axis 2 | ESPE2024

A Novel Peroxisomal Cause of Primary Adrenal İnsufficiency: Pseudo-neonatal Adrenoleukodystrophy Due to ACOX1 Mutations.

Helvacioglu Didem , Tugba Canbaz Aylin , Tekmenuray-Unal Aysel , Yapici Özge , Genç Emine , Gurpinar Tosun Busra , Ozturk Hismi Burcu , Guran Tulay

Background: Human peroxisomal fatty acyl CoA oxidase 1, encoded by the ACOX1 gene, catalyzes the first and rate limiting step in the beta oxidation of straight chain fatty acids in the peroxisomes. Biallelic mutations in ACOX1 are associated with pseudo-neonatal adrenoleukodystrophy characterized by severe hypotonia, seizures, psychomotor retardation followed by neuroregression, and death in early childhood. To date, primary adrenal insuffici...

hrp0098rfc8.3 | Adrenals and HPA Axis 2 | ESPE2024

Multi-hit Model of Primary Adrenal Insufficiency in CPOX mutations

Kelestemur Elif , Hakki Yarar Murat , Gurpinar Tosun Busra , Karaca Meryem , Mine Yilmaz Goler Ayse , Karademir Yilmaz Betul , Gokcay Gulden , Guran Tulay

Context: Inherited mitochondrial diseases are a group of disorders in which redox homeostasis is disrupted. The adrenal gland is particularly susceptible to oxidative stress associated with mitochondrial dysfunction. Furthermore, all adrenal steroid hormones are synthesized within the mitochondria. Therefore, novel genetic mitochondrial diseases emerge as rare causes of primary adrenal insufficiency (PAI).Objective: Char...

hrp0098p1-95 | Sex Endocrinology and Gonads 1 | ESPE2024

Phenotypes linked to duplication upstream of SOX9: New insights into presentation and diagnosis

Unal Edip , Tekmenuray Unal Aysel , Cayir Atilla , Deniz Papatya Cakir Esra , Beyazit Nurcan , Kolbasi Baris , Gurpinar Tosun Busra , Demirbilek Huseyin , Guran Tulay

Context: Duplications occurring upstream of the SOX9 gene have been identified in a limited subset of patients with 46,XX testicular/ovotesticular differences/disorders of sex development (DSD). However, comprehensive understanding regarding their clinical presentation and diagnosis is limited.Objective: To gain further insight into the diagnosis of a large cohort of 46,XX individuals with duplications upstream ...