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 ...

hrp0098rfc2.4 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

CYP24A1 MUTATIONS: CLINICAL AND LABORATORY FEATURES IN PATIENTS PRESENTING WITH HYPERCALCEMIA

Kurt Ilknur , Eltan Mehmet , Yavas Abalı Zehra , Alavanda Ceren , Demir Senol , Ata Pınar , Haliloglu Belma , Guran Tulay , Bereket Abdullah , Turan Serap

Background: The inactivating mutations of CYP24A1 (OMIM*126065) were first identified in idiopathic infantile hypercalcemia (IH) and named IH-type1 (IH1). However, biallelic mutations were later associated with hypercalcemia at various ages. In our study, we aimed to present the clinical and laboratory findings of our patients who presented with hypercalcemia and were found to have a mutation in CYP24A1.Methods and Resul...

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.<...

hrp0092p1-175 | Bone, Growth Plate and Mineral Metabolism (1) | ESPE2019

Rare Causes of Osteogenesis Imperfecta are Common in Consanguineous Pedigrees

Kaygusuz Sare Betul , Arman Ahmet , Abali Saygin , Ata Pinar , Kirkgoz Tarik , Eltan Mehmet , Abali Zehra Yavas , Helvacioglu Didem , Tosun Busra Gurpinar , Menevse Tuba Seven , Guran Tulay , Bereket Abdullah , Turan Serap

Background: Osteogenesis imperfecta (OI) is characterized by low bone mass and bone fragility mainly due to COL1A1/COL1A2 gene defects. However, >17 genes have been identified in the pathogenesis of OI. Here, we aim to characterize genotypic spectrum of our OI cohort.Methods: Forty-nine OI patients (28 males) from 38 different families (13 consanguineous/9 multiplex) were screened with the next-gene...

hrp0092p1-273 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

Hypergonadotropic Hypogonadism in 46, XX Adolescents Without Gonadotoxic Therapy: Clinical Features and Molecular Etiologies

Abali Zehra Yavas , Jolly Angad , Guran Tulay , Bayram Yavuz , Abali Saygin , Bas Serpil , Akdemir Zeynep Coban , Posey Jennifer Ellen , Helvacioglu Didem , Kirkgoz Tarik , Eltan Mehmet , Kaygusuz Sare Betul , Lupski James R , Bereket Abdullah , Turan Serap

Background: Hypergonadotropic hypogonadism(HH) in females results from primary gonadal failure related to genetic defects affecting ovarian development and function or acquired gonadal damage; limited knowledge exist regarding underlying genes involved or potential gene X environment interactions responsible for disease trait manifestations. While pathogenic variants in single genes, chromosomal abnormalities such as Turner syndrome and acquired gonadal damage...

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...