hrp0097p1-248 | Fat, Metabolism and Obesity | ESPE2023

Single Gene Variations in Etiology in Children with Severe Obesity

Kahveci Ahmet , Kelestemur Elif , Kurt Ilknur , Guran Tulay , Turan Serap , Bereket Abdullah , Haliloglu Belma

Background: Obesity is a multifactorial disease caused by environmental and genetic factors. Single gene defects explain approximately 5-13% of early-onset obesity and these rates vary according to genetic panel used and the rate of consanguinity in the population studied. As the new treatment modalities emerge for monogenic obesity, it is important to identify the molecular etiology of obesity.Materials and Methods: Buc...

hrp0097p2-192 | Adrenals and HPA Axis | ESPE2023

Neonatal CAH screening in patients with rare causes of inherited primary adrenal insufficiency

Kurt Ilknur , Eser Metin , Kahveci Ahmet , Ucar Ahmet , Bulus Derya , Ozcabi Bahar , Guran Tulay

Background and objective: 21alpha-hydroxylase deficiency congenital adrenal hyperplasia (21OHD-CAH) is the most common etiology of inherited primary adrenal insufficiency (PAI) in children. Neonatal CAH screening is important for early diagnosis of salt-wasting 21OHD and other virilizing CAH (11beta-hydroxylase, 3beta-hydroxysteroid dehydrogenase deficiencies) and for avoiding mortality, especially in salt-wasting CAH. Neonatal CAH screening has become nationw...

hrp0097p2-66 | Diabetes and Insulin | ESPE2023

Physician and Family Awareness in the Diagnostic Process of Newly Diagnosed Type-1 Diabetes Mellitus

Kahveci Ahmet , Helvacıoglu Didem , Kelestemur Elif , Kurt Ilknur , Turan Serap , Guran Tulay , Bereket Abdullah , Haliloglu Belma

Aim and Method: Diagnosis of type 1 diabetes (T1DM) may be delayed in some children, despite seeking medical care by the family. In this prospective/observational study, the time and process from consulting with a doctor to getting diagnosed with diabetes was investigated in patients hospitalized for newly diagnosed T1DM between 2021-2022.Results: During the study period total of 114 newly diagnosed T1DM patients (49%F, ...

hrp0097p2-184 | Diabetes and Insulin | ESPE2023

An Obese HNF1β Case Presenting with Diabetic Ketoacidosis

Kahveci Ahmet , Kaplan Gunay , Arslan Ateş Esra , Bilge Geckinli Bilgen , Guran Tulay , Turan Serap , Bereket Abdullah , Haliloglu Belma

Background: Hepatocyte nuclear factor 1β (HNF1β) is a critical transcription factor that regulates the development of the kidneys, pancreas, liver and genital tract. Patients with deletions and mutations in the HNF1 β gene present with renal and extrarenal manifestations. The most important extrarenal finding is diabetes, also known as MODY5. Although it is generally diagnosed with hyperglycemia, diabetic ketoacidosis is rarely seen.<p class...

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 ...

hrp0097p2-275 | Late Breaking | ESPE2023

Comparison of efficacy and safety of Leuprolide acetate depot 3.75 mg four-weekly versus 11.25 mg twelve-weekly in girls with central precocious puberty: A randomized-prospective study.

Helvacıoğlu Didem , Demircioğlu Serap , Güran Tülay , Haliloğlu Belma , Gürpınar Tosun Busra , Kahveci Ahmet , Bereket Abdullah

Context: Clinical experience is limited regarding the efficacy of different depot Leuprolide acetate (dLA) treatment protocols in girls with central precocious puberty (CPP).Aim: To compare the 3.75 mg/4 weeks versus 11.25 mg/12 weeks &imath;ntramuscular injection of dLA in suppressing gonadotropins and pubertal development.Subjects and Methods: In a prospective study, 92 girls wit...