All Stories

  1. A nonsense variant in FGFR1: a rare cause of combined pituitary hormone deficiency
  2. Graves’ disease following allogenic hematopoietic stem cell transplantation for severe aplastic anemia: case report and literature review
  3. Clinical Heterogeneity and Phenotypic Expansion of NaPi-IIa-Associated Disease
  4. Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations
  5. Levothyroxine replacement in primary congenital hypothyroidism: the higher the initial dose the higher the rate of overtreatment
  6. Relationship between oxidative stress and blood glucose fluctuations evaluated with daily glucose monitoring in children with type 1 diabetes mellitus
  7. YENİ TİP 1 DİABETES MELLİTUS TEŞHİSİ KONULAN ÇOCUKLARIN BESLENME VE AĞIZ HİJYENİ EĞİTİMİNİN DEĞERLENDİRİLMESİ
  8. Changes in Salivary Flow Rate and Buffering Capacity in Children with Newly Diagnosed Type 1 Diabetes Mellitus
  9. A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel
  10. Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort
  11. Genetic Diagnosis Using Whole Exome Analysis in Two Cases with Malignant Osteopetrosis of Infancy
  12. Complete Idiopathic Hypogonadotropic Hypogonadism due to Homozygous GNRH1 Mutations in the Mutational Hot Spots in the Region Encoding the Decapeptide
  13. The Role of Thyrotropin-Releasing Hormone Stimulation Test in Management of Hyperthyrotropinemia in Infants
  14. The Missense Alteration A5T of the Thyroid Peroxidase Gene is Pathogenic and Associated with Mild Congenital Hypothyroidism
  15. Novel CYP27B1 Gene Mutations in Patients with Vitamin D-Dependent Rickets Type 1A
  16. Current Practice in Diagnosis and Treatment of Growth Hormone Deficiency in Childhood: A Survey from Turkey
  17. Molecular diagnosis of maturity-onset diabetes of the young (MODY) in Turkish children by using targeted next-generation sequencing
  18. A novel mutation of AMH in three siblings with persistent Mullerian duct syndrome
  19. Two different patterns of mini-puberty in two 46,XY newborns with 17β-hydroxysteroid dehydrogenase type 3 deficiency
  20. GPR30 Gene Polymorphisms Are Associated with Gynecomastia Risk in Adolescents
  21. Importance of Insulin Immunoassays in the Diagnosis of Factitious Hypoglycemia
  22. Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome
  23. Can ambulatory blood pressure monitoring detect early diastolic dysfunction in children with type 1 diabetes mellitus: correlations with B-type natriuretic peptide and tissue Doppler findings
  24. Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in theKISS1Rgene in three unrelated families
  25. Acceleration of Puberty During Growth Hormone Therapy in a Child with Septo-Optic Dysplasia
  26. Genetic variants of estrogen beta and leptin receptors may cause gynecomastia in adolescent
  27. Nadir Görülen Bir Turner Sendromu Karyotipi: 45,X/47,XXX
  28. Management of central diabetes insipidus with oral desmopressin lyophilisate in infants
  29. Autoimmune thyroiditis in T1DM is associated with elevated IgG4 but not with low vitamin D.
  30. Psychomotor Retardation Caused by a Defective Thyroid Hormone Transporter: Report of Two Families with Different MCT8 Mutations
  31. The Role of Initial Clinical and Laboratory Findings in Infants With Hyperthyrotropinemia to Predict Transient or Permanent Hypothyroidism
  32. Celiac disease underlying rickets in an adolescent
  33. Thyroid dyshormonogenesis is mainly caused byTPOmutations in consanguineous community
  34. Diabetes Care, Glycemic Control, Complications, and Concomitant Autoimmune Diseases in Children with Type 1 Diabetes in Turkey: A Multicenter Study
  35. A novel mutation in a mother and a son with Aarskog-Scott syndrome
  36. Severe short stature due to 3-M syndrome with a novel OBSL1 gene mutation
  37. Concurrent protracted febrile myalgia syndrome in a child with diabetic ketoacidosis
  38. Hyperprolactinemia in children: clinical features and long-term results
  39. Clinical profile and etiologies of children with central diabetes insipidus: a single-center experience from Turkey
  40. Evaluation of neutrophil gelatinase-associated lipocalin in normoalbuminuric normotensive type 1 diabetic adolescents
  41. Vitamin D Dependent Rickets Type I: Two Cases Report
  42. TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis
  43. The Exon 3-Deleted/Full-Length Growth Hormone Receptor Polymorphism and Response to Growth Hormone Therapy in Growth Hormone Deficiency and Turner Syndrome: A Multicenter Study
  44. Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism
  45. Tamoxifen as First-line Treatment in a Premenarchal Girl with Juvenile Breast Hypertrophy
  46. A 2-Year-Old Boy with a Testicular Mass
  47. Growth of Children with Type 1 Diabetes Mellitus
  48. A Novel Mutation in theAVPR2Gene (222delA) Associated with X-Linked Nephrogenic Diabetes Insipidus in A Boy with Growth Failure
  49. Metabolic Alterations During Valproic Acid Treatment: A Prospective Study
  50. Clarithromycin, montelukast, and pentoxifylline combination treatment ameliorates experimental neonatal hyperoxic lung injury
  51. Chemical burn in domestic setting with an uncommon agent: hydrofluoric acid
  52. Predictive value of clinical and laboratory variables for vesicoureteral reflux in children
  53. Multisystemic Leukocytoclastic Vasculitis Affecting the Central Nervous System
  54. Sigmoid Sinus Thrombosis Following Mastoiditis
  55. A case of Takayasu disease with findings of incomplete Alagille syndrome