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  3. Prof. Dr. Hüseyin Demirbilek
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Prof. Dr.

Hüseyin Demirbilek

Pediatric Endocrinology · Kinderklinik

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Publications

Source: Hacettepe University academic database (AVESİS) · All publications (134) ↗

Articles 134

  1. The role of Spexin and Phoenixin-20 in girls during pubertyKoca S. B., Kırkgöz T., Kara L., Gök E., Koçer D., DEMİRBİLEK H.BMC Endocrine Disorders, cilt.26, sa.1, 2026 (SCI-Expanded, Scopus)
  2. Long-term clinical outcomes of primary adrenal insufficiency caused by homozygous CYP11A1 p.R451W variantÇAYIR A., DEMİRBİLEK H., Kurt I., Turkyilmaz A., Koca S. B., Ozbek M. N., et al.European Journal of Endocrinology, cilt.195, sa.1, ss.35-42, 2026 (SCI-Expanded, Scopus)
  3. Evaluation of Artificial Intelligence Answers for Short Stature in Paediatric Endocrinology by Paediatric Endocrinologists.Kaşali K., Özpolat Ö. F., Ülkü M., Dönmez A. S., Kılıç Kaya S., Dişçi E., et al.Journal of clinical research in pediatric endocrinology, cilt.18, ss.30-41, 2026 (SCI-Expanded, Scopus, TRDizin)
  4. The Course of Progranulin Levels at Admission and During Early Period of Insulin Treatment in Children with Newly Diagnosed Type 1 Diabetes Mellitus.Donmez A. S., Cayir A., Laloglu E., Lazoglu Ozkaya A., Dişci E., Kilic Kaya S., et al.Journal of clinical research in pediatric endocrinology, cilt.18, ss.123-128, 2026 (SCI-Expanded, Scopus, TRDizin)
  5. Children With Diabetes and At Least One Non-Autoimmune Feature Should Be Considered for Monogenic Diabetes Testing.Myers R., Yildiz M., Nuri Ozbek M., Manzoor J., Ibrahim M., Yajnik C., et al.The Journal of clinical endocrinology and metabolism, cilt.111, sa.2, 2026 (SCI-Expanded, Scopus)
  6. Long-read sequencing enables trio-assisted phasing of de novo variants in the imprinted gene MAGEL2Laver T. W., Sangha P., Mallin L., Cohen M., ÜNSAL Y., DEMİRBİLEK H., et al.Journal of Medical Genetics, 2026 (SCI-Expanded, Scopus)
  7. Advances in Pharmacotherapy for Congenital Hyperinsulinism.González-Llorens N., Yau D., León M. C., Demirbilek H., Banerjee I., Shah P.Paediatric drugs, cilt.28, sa.1, ss.15-29, 2026 (SCI-Expanded, Scopus)
  8. Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severityBennett J. J., Saint-Martin C., Neumann B., Mannisto J. M. E., Houghton J. A. L., Empting S., et al.GENOME MEDICINE, cilt.17, sa.1, 2025 (SCI-Expanded, Scopus)
  9. Diabetes Insipidus as an Early Clinical Indicator of Wolfram Syndrome Type 1: Evidence From a Symptom-Based Screening Approach.Gundogdu Ogutlu O. B., Cayır A., Donmez A. S., Koca S. B., Yarali O., Demirbilek H.Pediatric diabetes, cilt.2025, ss.8692152, 2025 (SCI-Expanded, Scopus)
  10. Phenotypes Linked to Duplication Upstream of SOX9: New Insights Into Presentation and DiagnosisUnal E., Tekmenuray-Unal A., Cayir A., Papatya Cakir E. D., Beyazit N., Kolbasi B., et al.JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.110, 2025 (SCI-Expanded, Scopus)
  11. Comparison of long-term height and pubertal outcomes in boys with delayed puberty due to constitutional delay in growth and puberty (CDGP) and isolated hypogonadotropic hypogonadism (iHH).Dogan O., Vuralli D., Demirbilek H.European journal of pediatrics, cilt.184, sa.9, ss.545, 2025 (SCI-Expanded, Scopus)
  12. Genotype, Phenotype Characteristics and Long-Term Follow-Up of Patients with Vitamin D-Dependent Rickets Type IA: A Nationwide Multi-Centre Retrospective Cross-Sectional Study.Cayir A., Demirbilek H., Türkyılmaz A., Turan S., Bereket A., Darendeliler F., et al.Hormone research in paediatrics, ss.1-9, 2025 (SCI-Expanded, Scopus)
  13. Global, multi-center, repeat-dose, phase 2 study of RZ358 (ersodetug), an insulin receptor antibody, for congenital hyperinsulinism.Demirbilek H., Melikyan M., Iotova V., Galcheva S., Ozbek M. N., Dastamani A., et al.Med (New York, N.Y.), cilt.6, sa.6, ss.100611, 2025 (ESCI, Scopus)
  14. Assessment of Quadriceps Muscle Strength and Thickness in Adolescents with Polycystic Ovary Syndrome: A Case-control and Longitudinal Follow-up Study.Güven A. G., Kara M., Güneri S., Aygün Arı D., Karabulut E., Demirbilek H., et al.Journal of clinical research in pediatric endocrinology, cilt.17, sa.2, ss.202-210, 2025 (SCI-Expanded, Scopus, TRDizin)
  15. Clinical Characteristics and Genotype-phenotype Correlation in Turkish Patients with a Diagnosis of Resistance to Thyroid Hormone BetaBuyukyilmaz G., Çavdarlı B., Koca S. b., Toksoy K., topaloglu o., Aydın C., et al.Journal of Clinical Research in Pediatric Endocrinology, cilt.17, sa.2, ss.191-201, 2025 (SCI-Expanded, Scopus, TRDizin)
  16. Late Effects Following Hematopoietic Stem Cell Transplantation Among Childhood Transplant Survivors with Fanconi AnemiaOzkocer C., Visal Okur F. V., Demirbilek H., Altintas B., Cetin N., Kuskonmaz B. B., et al.TURKISH JOURNAL OF HEMATOLOGY, cilt.42, sa.1, ss.15-24, 2025 (SCI-Expanded, Scopus, TRDizin)
  17. Three Birds With One Stone: Successful Management Of Peritonitis Induced Pediatric Septic Shock With Peritoneal WashingDEMİR O. O., Erdemir G. N., KESİCİ S., BOYBEYİ TÜRER Ö., ÖZSÜREKCİ Y., DEMİRBİLEK H.KLINISCHE PADIATRIE, 2024 (SCI-Expanded, Scopus)
  18. Author's reply "Comment on diagnostic utility of the average peak LH levels measured during GnRH stimulation test"Koca S. B., DEMİRBİLEK H.JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.37, ss.988-989, 2024 (SCI-Expanded, Scopus)
  19. Evaluation of clinical characteristics and genotype-phenotype correlation of resistance to thyroid hormone receptor Beta (RTHβ) due to THRβ gene mutationsGulal G., Cavdarli B. E., Koca S. B., Adiguzel K. T., TOPALOĞLU O., AYDIN C., et al.HORMONE RESEARCH IN PAEDIATRICS, ss.530-531, 2024 (SCI-Expanded, Scopus)
  20. Phenotypes linked to duplication upstream of SOX9: New insights into presentation and diagnosisUnal E., Unal A. T., Cayir A., Cakir E. D. P., Beyazit N., Kolbasi B., et al.HORMONE RESEARCH IN PAEDIATRICS, ss.203, 2024 (SCI-Expanded, Scopus)
  21. Genotype and phenotype characteristics and long-term follow-up of patients with Vitamin D Dependent Rickets Type II (VDDRII): A nationwide multicenter retrospective cross-sectional studyCayir A., DEMİRCİOĞLU S., EKLİOĞLU B. S., BAYRAMOĞLU E., Unal E., Yildiz M., et al.HORMONE RESEARCH IN PAEDIATRICS, ss.483-484, 2024 (SCI-Expanded, Scopus)
  22. Diagnostic utility of the average peak LH levels measured during GnRH stimulation testKoca S. B., DEMİRBİLEK H.JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.37, sa.9, ss.773-778, 2024 (SCI-Expanded, Scopus)
  23. Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p.Arg1163_ Ala1168del) INSR gene mutation in an adolescent girl and her motherKoca S. B., Kulali M. A., Göğüş B., DEMİRBİLEK H.Archives of Endocrinology and Metabolism, cilt.68, 2024 (SCI-Expanded, Scopus)
  24. Severe Early-Onset Obesity and Diabetic Ketoacidosis due to a Novel Homozygous c.169C>T p.Arg57*Variant in CEP19 GeneCayir A., TÜRKYILMAZ A., Rabenstein H., Guven F., Karagoz Y. S., VURALLI KARAOĞLAN D., et al.MOLECULAR SYNDROMOLOGY, cilt.15, sa.2, ss.104-113, 2023 (SCI-Expanded, Scopus)
  25. Evaluation Of Long-term Height and Pubertal Outcome Of Boys Presented With Delayed Puberty Due To Constitutional Delay In Growth And Puberty And Isolated Hypogonadotropic HypogonadismDOĞAN Ö., VURALLI KARAOĞLAN D., DEMİRBİLEK H.HORMONE RESEARCH IN PAEDIATRICS, ss.387, 2023 (SCI-Expanded, Scopus)
  26. Clinical characteristics, molecular genetics analysis results and long-term follow-up of a large cohort of congenital hyperinsulinism from Turkey: A nationwide cross-sectional studyDEMİRBİLEK H., Ozbek M. N., Yildiz M., Houghton J. L. A., Onal H., GÜRBÜZ F., et al.HORMONE RESEARCH IN PAEDIATRICS, ss.589, 2023 (SCI-Expanded, Scopus)
  27. Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-yearÖzalkak Ş., Demiral M., Ünal E., Taş F. F., Onay H., DEMİRBİLEK H., et al.Journal of clinical research in pediatric endocrinology, cilt.15, sa.3, ss.329-333, 2023 (SCI-Expanded, Scopus, TRDizin)
  28. Serum kisspeptin, neurokinin B and inhibin B levels can be used as alternative parameters to distinguish idiopathic CPP from premature thelarche in the early stages of pubertyVuralli D., Ciftci N., DEMİRBİLEK H.Clinical Endocrinology, cilt.98, sa.6, ss.788-795, 2023 (SCI-Expanded, Scopus)
  29. Managing Severe Hypoglycaemia in Patients with Diabetes: Current Challenges and Emerging TherapiesDEMİRBİLEK H., Vuralli D., Haris B., Hussain K.Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy, cilt.16, ss.259-273, 2023 (SCI-Expanded, Scopus)
  30. Incidence and Risk Factors of Hyperglycemia in Severe Multisystem Inflammatory Syndrome in Children: A Retrospective Case-Control StudySARITAŞ NAKİP Ö., KESİCİ S., BOZKURT B. S., ÖZSÜREKCİ Y., DEMİRBİLEK H., BAYRAKCİ B.Journal of Pediatric Infectious Diseases, cilt.18, sa.1, ss.31-37, 2023 (SCI-Expanded, Scopus)
  31. TWO OPPOSITE PHENOTYPES OF GLUCOSE DISORDERS IN A FAMILY WITH HETEROZYGOUS P.SER453LEU (C.1358C> T) MUTATION IN THE GLUCOKINASE (GCK) GENE: MATURITY ONSET DIABETES IN YOUNG AND INSULINOMA.Demiral M., Çelebi H. B. G., Cander S., Yerci O., Eren E., Demirbilek H.Acta endocrinologica (Bucharest, Romania : 2005), cilt.18, sa.4, ss.458-465, 2022 (SCI-Expanded, Scopus)
  32. Demographic, Clinical, Hormonal And Genetic Characteristics Of Children And Adolescents With Congenital Adrenal Hyperplasia Due To 11-Beta Hydroxylase DeficiencyKendirci H. N. P., BAYRAMOĞLU E., Aycan Z., HATİPOĞLU N., Ucakturk S. A., Ozalkak S., et al.HORMONE RESEARCH IN PAEDIATRICS, cilt.95, sa.SUPPL 2, ss.119-120, 2022 (SCI-Expanded, Scopus)
  33. Genotype, phenotype characteristics and long-term follow-up of patients with Vitamin D Dependent Rickets Type IA (VDDR1a): A nationwide multicentre retrospective cross-sectional studyCayir A., DEMİRBİLEK H., TÜRKYILMAZ A., DEMİRCİOĞLU S., BEREKET A., Darendeliler F., et al.HORMONE RESEARCH IN PAEDIATRICS, cilt.95, sa.SUPPL 2, ss.100, 2022 (SCI-Expanded, Scopus)
  34. Severe early-onset obesity and diabetic ketoacidosis due to a novel homozygous c.169C > T p.Arg57*mutation in CEP19 geneCayir A., Turkyilmaz A., Rabenstein H., GÜVEN F., Karagoz Y. S., Wabitsch M., et al.HORMONE RESEARCH IN PAEDIATRICS, cilt.95, sa.SUPPL 2, ss.216, 2022 (SCI-Expanded, Scopus)
  35. Results from a Global, Multi-Center, Phase 2b Study (RIZE) in Congenital Hyperinsulinism: Characterization of a High Unmet Treatment Need and Glycemic Response to RZ358DEMİRBİLEK H., Melikyan M., Galcheva S., Dastamani A., Thornton P., De Leon D., et al.HORMONE RESEARCH IN PAEDIATRICS, cilt.95, sa.SUPPL 2, ss.32-33, 2022 (SCI-Expanded, Scopus)
  36. Serum kisspeptin, neurokinin B and inhibin B levels can be used as an auxiliary parameter to distinguish idiopathic CPP from premature thelarche in the early stages of pubertyVURALLI KARAOĞLAN D., Ciftci N., DEMİRBİLEK H.HORMONE RESEARCH IN PAEDIATRICS, cilt.95, sa.SUPPL 2, ss.62-63, 2022 (SCI-Expanded, Scopus)
  37. The effects of the covid-19 pandemic on puberty: a cross-sectional, multicenter study from TurkeyMutlu G. Y., Eviz E., Haliloglu B., Kirmizibekmez H., Dursun F., Ozalkak S., et al.ITALIAN JOURNAL OF PEDIATRICS, cilt.48, sa.1, 2022 (SCI-Expanded, Scopus)
  38. RZ358 in Congenital Hyperinsulinism: Results from a Multi-Center, Global, Phase 2b Study (RIZE)Thornton P., DEMİRBİLEK H., Christesen H. T., Melikian M., Galcheva S., Dastamani A., et al.HORMONE RESEARCH IN PAEDIATRICS, cilt.95, sa.SUPPL 1, ss.265-266, 2022 (SCI-Expanded, Scopus)
  39. Revisiting the Annual Incidence of Type 1 Diabetes Mellitus in Children from the Southeastern Anatolian Region of Turkey: A Regional ReportOzalkak S., Yildirim R., Tunc S., Unal E., Tas F. F., DEMİRBİLEK H., et al.JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.14, sa.2, ss.172-178, 2022 (SCI-Expanded, Scopus, TRDizin)
  40. Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57 gene: relapse at prepubertal ageKontbay T., Atar M., DEMİRBİLEK H.JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.35, ss.695-698, 2022 (SCI-Expanded, Scopus)
  41. Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemiaMcGlacken-Byrne S. M., Mohammad J. K., Conlon N., Gubaeva D., Siersbaek J., Schou A. J., et al.EUROPEAN JOURNAL OF ENDOCRINOLOGY, cilt.186, sa.4, ss.417-427, 2022 (SCI-Expanded, Scopus)
  42. Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinicsPatel K. A., Ozbek M. N., Yildiz M., GÜRAN T., Kocyigit C., ACAR S., et al.DIABETOLOGIA, cilt.65, sa.2, ss.336-342, 2022 (SCI-Expanded, Scopus)
  43. Clinical, biochemical, and echocardiographic evaluation of neonates with vitamin D deficiency due to maternal vitamin D deficiencyCayir A., Akyigit A., Gullu U. U., Kahveci H., Yildiz D., Kurnaz E., et al.CARDIOLOGY IN THE YOUNG, cilt.32, sa.1, ss.88-93, 2022 (SCI-Expanded, Scopus)
  44. NUTRITIONAL HABITS, COMPLIANCE WITH HEALTHY DIET AND INSULIN THERAPY, DEPRESSION AND FAMILY FUNCTIONALITY IN CHILDREN WITH TYPE 1 DIABETES MELLITUS DURING THE COVID-19 PANDEMIC PERIODKoca S. B., Bukulmez A., Oflu A. T., Tahta E. G., Demirbilek H.ACTA ENDOCRINOLOGICA-BUCHAREST, cilt.18, sa.1, ss.40-48, 2022 (SCI-Expanded, Scopus)
  45. Continuous Hepatogonodal and Splenogonogal Fusion: A Rare Cause of Bilateral Infra-Abdominal Testis in an 18-Month-Old BoyDurmus G., BOYBEYİ TÜRER Ö., ÖZCAN H. N., GÖZMEN O., DEMİRBİLEK H., SOYER T.EUROPEAN JOURNAL OF PEDIATRIC SURGERY REPORTS, cilt.10, sa.01, 2022 (ESCI)
  46. A rare and preventable aetiology of neurodevelopmental delay and epilepsy: familial glucocorticoid deficiencyOzbek M. N., Demiral M., Unal E., Karasin N. D., Baran R. T., DEMİRBİLEK H.JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.34, sa.11, ss.1463-1468, 2021 (SCI-Expanded, Scopus)
  47. Clinical and Hormonal Profiles Correlate With Molecular Characteristics in Patients With 11 beta-Hydroxylase DeficiencyYILDIZ M., Isik E., Abali Z. Y., KESKİN M., Ozbek M. N., Bas F., et al.JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.106, sa.9, 2021 (SCI-Expanded, Scopus)
  48. Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families; the Role of Homozygosity Mapping in the Early Diagnosis.Sherif M., Demirbilek H., Cayir A., Tahir S., Cavdarli B., Demiral M., et al.Journal of clinical research in pediatric endocrinology, cilt.13, ss.34-43, 2021 (SCI-Expanded, Scopus, TRDizin)
  49. Frequency of Celiac Disease and Spontaneous Normalization Rate of Celiac Serology in Children and Adolescent Patients with Type 1 Diabetes.Unal E., Demiral M., Baysal B., Agın M., Devecioğlu E., Demirbilek H., et al.Journal of clinical research in pediatric endocrinology, cilt.13, ss.72-79, 2021 (SCI-Expanded, Scopus, TRDizin)
  50. INTENSIVE PHYSICAL EXERCISE AND KETOSIS IN TYPE 1 DIABETES: LITERATURE REVIEW ON A CASE AFTER COVID-19 QUARANTINECivil T., ÖZEN G., DEMİRBİLEK H.INTERNATIONAL JOURNAL OF LIFE SCIENCE AND PHARMA RESEARCH, ss.276-280, 2021 (ESCI)
  51. CORRELATION OF STRENGTH, MOBILITY AND BONE MINERAL DENSITY IN DUCHENNE MUSCULAR DYSTROPHYBaran R. T., Kutluk M. G., Toraman N. F., Filiz M. B., Filiz S., DEMİRBİLEK H.ACTA MEDICA MEDITERRANEA, cilt.37, sa.6, ss.3647-3654, 2021 (SCI-Expanded, Scopus)
  52. Clinical characteristics and molecular genetic analysis of a cohort with idiopathic congenital hypogonadismTurkyilmaz A., Cayir A., Yarali O., Kurnaz E., Baykan E. K., Ates E. A., et al.JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.34, sa.6, ss.771-780, 2021 (SCI-Expanded, Scopus)
  53. Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To PTF1A Enhancer Mutations.Demirbilek H., Cayir A., Flanagan S., Yıldırım R., Kor Y., Gurbuz F., et al.The Journal of clinical endocrinology and metabolism, cilt.105, 2020 (SCI-Expanded, Scopus)
  54. Neonatal diabetes due to homozygousINSgene promoter mutations: Highly variable phenotype, remission and early relapse during the first 3 years of lifeDemiral M., DEMİRBİLEK H., Celik K., Okur N., Hussain K., Ozbek M. N.PEDIATRIC DIABETES, cilt.21, sa.7, ss.1169-1175, 2020 (SCI-Expanded, Scopus)
  55. Validity of Six Month L-Thyroxine Dose for Differentiation of Transient or Permanent Congenital HypothyroidismAsena M., Demiral M., Unal E., Ocal M., DEMİRBİLEK H., Ozbek M. N.JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.12, sa.3, ss.275-280, 2020 (SCI-Expanded, Scopus, TRDizin)
  56. Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A > C(c.1957-2A > C) Mutation in the GLI2 GeneDemiral M., DEMİRBİLEK H., Unal E., Durmaz C. D., Ceylaner S., Ozbek M. N.JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.12, sa.3, ss.319-328, 2020 (SCI-Expanded, Scopus, TRDizin)
  57. Evaluation of the Final Adult Height and Its Determinants in Patients with Growth Hormone Deficiency: A Single-centre Experience from the South-Eastern Region of TurkeyDemiral M., Unal E., Baysal B., Baran R. T., DEMİRBİLEK H., Ozbek M. N.JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.12, sa.3, ss.295-302, 2020 (SCI-Expanded, Scopus, TRDizin)
  58. A novel diagnostic tool for the evaluation of hypothalamic-pituitary region and diagnosis of growth hormone deficiency: pons ratioDemiral M., Karaca M. S., Unal E., Baysal B., Baran R. T., DEMİRBİLEK H., et al.JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.33, sa.6, ss.735-742, 2020 (SCI-Expanded, Scopus)
  59. Cystoscopy-Guided Laparoscopic Excision of Prostatic Utricle: Report of a CaseBoybeyi-Turer O., DEMİRBİLEK H., SOYER T.EUROPEAN JOURNAL OF PEDIATRIC SURGERY REPORTS, cilt.8, sa.1, ss.35-38, 2020 (ESCI)
  60. Clinical, biochemical and echocardiographic evaluation of patients with congenital rickets due to maternal vitamin D deficiencyCayir A., Akyigit A., Gullu U. U., Kahveci H., Yildiz D., Kurnaz E., et al.HORMONE RESEARCH IN PAEDIATRICS, cilt.91, ss.163, 2019 (SCI-Expanded, Scopus)

All 134 on AVESİS →

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