Huseyin Demirbilek

Summary

Publications

  1. ncbi request reprint Evaluation of serum kisspeptin levels in girls in the diagnosis of central precocious puberty and in the assessment of pubertal suppression
    Huseyin Demirbilek
    Division of Pediatric Endocrinology, Hacettepe University Medical School, Sihhiye, Ankara, Turkey
    J Pediatr Endocrinol Metab 25:313-6. 2012
  2. doi request reprint Prepubertal unilateral gynecomastia: report of 2 cases
    Huseyin Demirbilek
    Diyarbakır Children State Hospital, Clinic of Pediatric Endocrinology, Diyarbakir, Turkey E mail
    J Clin Res Pediatr Endocrinol 6:250-3. 2014
  3. pmc Multiple pituitary hormone deficiency due to gunshot injury in a 6-year-old girl
    Huseyin Demirbilek
    Diyarbakır Children s State Hospital, Pediatric Endocrinology, Diyarbakir, Turkey E mail
    J Clin Res Pediatr Endocrinol 5:209-11. 2013
  4. pmc Incidence of type 1 diabetes mellitus in Turkish children from the southeastern region of the country: a regional report
    Huseyin Demirbilek
    Diyarbakır Children State Hospital, Division of Pediatric Endocrinology, Diyarbakir, Turkey
    J Clin Res Pediatr Endocrinol 5:98-103. 2013
  5. ncbi request reprint Hashimoto's thyroiditis in children and adolescents: a retrospective study on clinical, epidemiological and laboratory properties of the disease
    H Demirbilek
    Department of Pediatrics, Division of Endocrinology, Hacettepe University Faculty ofMedicine, Ankara, Turkey
    J Pediatr Endocrinol Metab 20:1199-205. 2007
  6. pmc Hypophosphatasia presenting with pyridoxine-responsive seizures, hypercalcemia, and pseudotumor cerebri: case report
    Huseyin Demirbilek
    Hacettepe University Faculty of Medicine, Department of Pediatrics Endocrinology, Ankara, Turkey
    J Clin Res Pediatr Endocrinol 4:34-8. 2012
  7. doi request reprint Assessment of thyroid function during the long course of Hashimoto's thyroiditis in children and adolescents
    H Demirbilek
    Division of Paediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara, Turkey
    Clin Endocrinol (Oxf) 71:451-4. 2009
  8. doi request reprint Familial isolated growth hormone deficiency due to a novel homozygous missense mutation in the growth hormone releasing hormone receptor gene: clinical presentation with hypoglycemia
    Huseyin Demirbilek
    Developmental Endocrinology Research Group H D, S T, M S, P S, V B A, K H, Clinical and Molecular Genetics Unit, Institute of Child Health, University College London, WC1N 1EH London, United Kingdom Department of Paediatric Endocrinology H D, P S, V B A, K H, Great Ormond Street Hospital for Children, NHS Foundation Trust, WC1N 3JH London, United Kingdom Department of Paediatric Endocrinology H D, R T B, M N O and Department of Radiology N H, A B, Diyarbakır Children s State Hospital, 21100 Diyarbakir, Turkey
    J Clin Endocrinol Metab 99:E2730-4. 2014
  9. ncbi request reprint 17beta-hydroxysteroid dehydrogenase type 3 deficiency as a result of a homozygous 7 base pair deletion in 17betaHSD3 gene
    Ayfer Alikasifoglu
    Hacettepe University Faculty of Medicine, Division of Pediatric Endocrinology, Ankara, 06100 Turkey
    J Pediatr Endocrinol Metab 25:561-3. 2012
  10. ncbi request reprint Two pediatric patients with Von Hippel-Lindau disease type 2b: from patient to screening, from screening to patient
    Nazli Gonc
    Department of Pediatric Endocrinology, Hacettepe University, Faculty of Medicine, Ankara, Turkey
    J Pediatr Endocrinol Metab 24:109-12. 2011

Detail Information

Publications17

  1. ncbi request reprint Evaluation of serum kisspeptin levels in girls in the diagnosis of central precocious puberty and in the assessment of pubertal suppression
    Huseyin Demirbilek
    Division of Pediatric Endocrinology, Hacettepe University Medical School, Sihhiye, Ankara, Turkey
    J Pediatr Endocrinol Metab 25:313-6. 2012
    ..Onset of puberty is dependent on pulsatile secretion of gonadotropin releasing hormone (GnRH). The kisspeptin-GPR54 signaling system has a considerable role in GnRH physiology and induction of puberty...
  2. doi request reprint Prepubertal unilateral gynecomastia: report of 2 cases
    Huseyin Demirbilek
    Diyarbakır Children State Hospital, Clinic of Pediatric Endocrinology, Diyarbakir, Turkey E mail
    J Clin Res Pediatr Endocrinol 6:250-3. 2014
    ..Although an extremely rare and generally benign condition, patients with prepubertal unilateral gynecomastia should have a full endocrine and oncologic work-up. ..
  3. pmc Multiple pituitary hormone deficiency due to gunshot injury in a 6-year-old girl
    Huseyin Demirbilek
    Diyarbakır Children s State Hospital, Pediatric Endocrinology, Diyarbakir, Turkey E mail
    J Clin Res Pediatr Endocrinol 5:209-11. 2013
    ..Evaluation of other pituitary hormones revealed central hypothyroidism and growth hormone deficiency. Pituitary hormone deficiency must be kept in mind in patients injured by a gunshot to the sellar/parasellar region. ..
  4. pmc Incidence of type 1 diabetes mellitus in Turkish children from the southeastern region of the country: a regional report
    Huseyin Demirbilek
    Diyarbakır Children State Hospital, Division of Pediatric Endocrinology, Diyarbakir, Turkey
    J Clin Res Pediatr Endocrinol 5:98-103. 2013
    ..To define the incidence, demographic and clinical characteristics of T1DM in children 0-14 years of age in Diyarbakir, one of the largest cities in the Southeast region of Turkey...
  5. ncbi request reprint Hashimoto's thyroiditis in children and adolescents: a retrospective study on clinical, epidemiological and laboratory properties of the disease
    H Demirbilek
    Department of Pediatrics, Division of Endocrinology, Hacettepe University Faculty ofMedicine, Ankara, Turkey
    J Pediatr Endocrinol Metab 20:1199-205. 2007
    ....
  6. pmc Hypophosphatasia presenting with pyridoxine-responsive seizures, hypercalcemia, and pseudotumor cerebri: case report
    Huseyin Demirbilek
    Hacettepe University Faculty of Medicine, Department of Pediatrics Endocrinology, Ankara, Turkey
    J Clin Res Pediatr Endocrinol 4:34-8. 2012
    ..Herein, we report a case of HPP who presented with pyridoxine-responsive seizures in the early neonatal period and was found to have hypercalcemia, skeletal demineralization and increased intracranial pressure...
  7. doi request reprint Assessment of thyroid function during the long course of Hashimoto's thyroiditis in children and adolescents
    H Demirbilek
    Division of Paediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara, Turkey
    Clin Endocrinol (Oxf) 71:451-4. 2009
    ..The prognosis of Hashimoto's thyroiditis (HT) in children and adolescents is not well known and studies reporting long-term outcome of the disease are scarce...
  8. doi request reprint Familial isolated growth hormone deficiency due to a novel homozygous missense mutation in the growth hormone releasing hormone receptor gene: clinical presentation with hypoglycemia
    Huseyin Demirbilek
    Developmental Endocrinology Research Group H D, S T, M S, P S, V B A, K H, Clinical and Molecular Genetics Unit, Institute of Child Health, University College London, WC1N 1EH London, United Kingdom Department of Paediatric Endocrinology H D, P S, V B A, K H, Great Ormond Street Hospital for Children, NHS Foundation Trust, WC1N 3JH London, United Kingdom Department of Paediatric Endocrinology H D, R T B, M N O and Department of Radiology N H, A B, Diyarbakır Children s State Hospital, 21100 Diyarbakir, Turkey
    J Clin Endocrinol Metab 99:E2730-4. 2014
    ..Mutations in the growth hormone releasing hormone receptor (GHRHR) gene are a relatively rare cause of isolated growth hormone deficiency (IGHD)...
  9. ncbi request reprint 17beta-hydroxysteroid dehydrogenase type 3 deficiency as a result of a homozygous 7 base pair deletion in 17betaHSD3 gene
    Ayfer Alikasifoglu
    Hacettepe University Faculty of Medicine, Division of Pediatric Endocrinology, Ankara, 06100 Turkey
    J Pediatr Endocrinol Metab 25:561-3. 2012
    ..777-783del_GATAACC). Our patient had one of the very rare mutations, which was previously unencountered in Turkish patients with 17betaHSD type 3, and she is the second reported case with this deletion...
  10. ncbi request reprint Two pediatric patients with Von Hippel-Lindau disease type 2b: from patient to screening, from screening to patient
    Nazli Gonc
    Department of Pediatric Endocrinology, Hacettepe University, Faculty of Medicine, Ankara, Turkey
    J Pediatr Endocrinol Metab 24:109-12. 2011
    ..Screening of patients and at-risk family members for VHL-associated tumors should be essential in management of VHL...
  11. pmc The role of the resistive index in Hashimoto's thyroiditis: a sonographic pilot study in children
    Basar Sarikaya
    Department of Radiology, Medical Faculty, Hacettepe University, Ankara, Turkey
    Clinics (Sao Paulo) 67:1253-7. 2012
    ..We examined gray-scale and Doppler ultrasound findings in Hashimoto's thyroiditis in children in an attempt to understand the feasibility of future prospective controlled studies...
  12. doi request reprint Assessment of gonadotrophin suppression in girls treated with GnRH analogue for central precocious puberty; validity of single luteinizing hormone measurement after leuprolide acetate injection
    Huseyin Demirbilek
    Division of Pediatric Endocrinology, Hacettepe University Medical School, Ankara, Turkey
    Clin Endocrinol (Oxf) 76:126-30. 2012
    ....
  13. pmc GnRH stimulation test in precocious puberty: single sample is adequate for diagnosis and dose adjustment
    Nurgun Kandemir
    Pediatric Endocrinology Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
    J Clin Res Pediatr Endocrinol 3:12-7. 2011
    ..The aim of this study was to simplify the intravenous gonadotropin-releasing hormone (GnRH) stimulation test in the diagnosis of precocious puberty and in the assessment of pubertal suppression...
  14. doi request reprint Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations
    Huseyin Demirbilek
    Departments of NeonatologyPaediatric EndocrinologyGreat Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, UKDevelopmental Endocrinology Research GroupMolecular Genetics Unit, The Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UKDepartments of Paediatric EndocrinologyAnkara Children s Hematology and Oncology Training Hospital, Ankara, TurkeyDepartments of Paediatric EndocrinologyChildren State Hospital, Diyarbakir, TurkeyDepartments of Paediatric EndocrinologyInönü University, Malatya, TurkeyDepartments of Paediatric EndocrinologyYüzüncü Yıl University, Van, TurkeyInstitute of Biomedical and Clinical ScienceUniversity of Exeter Medical School, Exeter EX2 5DW, UKDepartment of Medical Biology and GeneticsDicle University, Diyarbakir, TurkeyDepartments of NeonatologyPaediatric EndocrinologyGreat Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, UKDevelopmental Endocrinology Research GroupMolecular Genetics Unit, The Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UKDepartments of Paediatric EndocrinologyAnkara Children s Hematology and Oncology Training Hospital, Ankara, TurkeyDepartments of Paediatric EndocrinologyChildren State Hospital, Diyarbakir, TurkeyDepartments of Paediatric EndocrinologyInönü University, Malatya, TurkeyDepartments of Paediatric EndocrinologyYüzüncü Yıl University, Van, TurkeyInstitute of Biomedical and Clinical ScienceUniversity of Exeter Medical School, Exeter EX2 5DW, UKDepartment of Medical Biology and GeneticsDicle University, Diyarbakir, TurkeyDepartments of NeonatologyPaediatric EndocrinologyGreat Ormond Street Hospital for Children NHS Trust, Australia
    Eur J Endocrinol 170:885-92. 2014
    ..The aim of this study was to describe the clinical characteristics, analyse the genotype-phenotype correlations and describe the treatment outcome of Turkish CHI patients...
  15. ncbi request reprint Vitamin D-deficient rickets mimicking ankylosing spondylitis in an adolescent girl
    Huseyin Demirbilek
    Division of Paediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara, Turkey
    Turk J Pediatr 54:177-9. 2012
    ..Complete clinical and biochemical resolution was achieved with vitamin D replacement...
  16. doi request reprint Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families
    Huseyin Demirbilek
    Division of Pediatric Endocrinology, Children s State Hospital, Diyarbakir, Turkey
    Clin Endocrinol (Oxf) 82:429-38. 2015
    ..However, KISS1R mutations remain rare. The aim of this study was to understand the molecular basis of normosmic idiopathic hypogonadotropic hypogonadism...
  17. ncbi request reprint Oncologic manifestations in children with neurofibromatosis type 1 in Turkey
    Faruk Incecik
    Divisions of 1Pediatric Neurology, Department of Pediatrics, Faculty of Medicine, Cukurova University, Adana, Turkey
    Turk J Pediatr 55:266-70. 2013
    ..Patients with NF1 are predisposed to both benign and malignant tumors of neurogenic and non-neurogenic origin. Therefore, systematic medical follow-up in patients with NF1 is important. ..