A novel AVPR2 missense mutation in a Chinese boy with severe inherited nephrogenic diabetes insipidus

Artikel in diesem Heft

1. Editorial
2. IGF-I in extremely low birth weight (ELBW): a long-term observation
3. Original Articles
4. A potential role for adjunctive vitamin D therapy in the management of weight gain and metabolic side effects of second-generation antipsychotics
5. Intracranial hypertension in pediatric patients treated with recombinant human growth hormone: data from 25 years of the Genentech National Cooperative Growth Study
6. Effects of recombinant human growth hormone on protein turnover in the fasting and fed state in adolescents with Crohn disease
7. Circular IGFBP-3 level affected by the gene transfer of different growth hormone isoforms
8. Changes in plasma FGF23 in growth hormone deficient children during rhGH therapy
9. Insulin-like growth factor-1 (IGF-1) serum concentration among 7-year-old extremely low birth weight children – an indicator of growth problems
10. The effect of the length of the prodromal period on the metabolic control within the first 2 years in children with diabetic ketoacidosis manifestation
11. Clinical characteristics at presentation of type 1 diabetes mellitus in children younger than 15 years in Croatia
12. Umbilical cord oxidative stress in infants of diabetic mothers and its relation to maternal hyperglycemia
13. The relationship between serum magnesium levels wıth childhood obesity and insulin resistance: a review of the literature
14. Fulminant type 1 diabetes mellitus in Korean adolescents
15. Retinol-binding protein 4 correlates with triglycerides but not insulin resistance in prepubertal children with and without premature adrenarche
16. The energy expenditure of an activity-promoting video game compared to sedentary video games and TV watching
17. Acanthosis nigricans and truncal fat in overweight and obese children
18. The effects of antiepileptic drugs on the relationships between leptin levels and bone turnover in prepubertal children with epilepsy
19. The association between morning cortisol and adiposity in children varies by weight status
20. Evaluation of two dietary treatments in obese hyperinsulinemic adolescents
21. Early cardiac abnormalities and serum N-terminal pro B-type natriuretic peptide levels in obese children
22. Multivariate analyses of factors that affect neonatal screening thyroid stimulating hormone
23. Establishment of reference range of plasma amino acids for younger Chinese children by reverse phase HPLC
24. Differentiated thyroid carcinomas in childhood: clinicopathologic results of 26 patients
25. Differentiated thyroid carcinoma: presentation and follow-up in children and adolescents
26. Two cases of Fanconi-Bickel syndrome: first report from China with novel mutations of SLC2A2 gene
27. Short Communications
28. Idiopathic Fanconi’s syndrome with nephrogenic diabetes insipidus in a child who presented as vitamin D resistant rickets – a case report and review of literature
29. U.S. News and World Report’s rankings of the top 50 children’s hospitals for diabetes and endocrinology reflect reputation more than objective measures
30. Patient Reports
31. A V59M KCNJ11 gene mutation leading to intermediate DEND syndrome in a Chinese child
32. Congenital hypopituitarism presenting as dilated cardiomyopathy in a child
33. Seventeen-year-old adolescent with pituitary abscess
34. Blastomycosis of the central nervous system in a child: a rare cause of hypopituitarism
35. A novel homozygous HESX1 mutation causes panhypopituitarism without midline defects and optic nerve anomalies
36. Poorly differentiated thyroid carcinoma in a 9-year-old boy: case report
37. Congenital hypothyroidism in association with chromosome 3p25.3-pter deletion
38. Membranoproliferative glomerulonephritis associated with autoimmune thyroiditis
39. Report of two unrelated patients with hereditary vitamin D resistant rickets due to the same novel mutation in the vitamin D receptor
40. Vitamin D dependent rickets, diagnostic and therapeutic difficulties: two case reports
41. A novel AVPR2 missense mutation in a Chinese boy with severe inherited nephrogenic diabetes insipidus
42. From idiopathic diabetes insipidus to neurodegenerative Langerhans cell histiocytosis – an unusual presentation and progression of disease
43. Unique concurrent appearance of two rare conditions in a young girl: central precocious puberty due to hypothalamic hamartoma and uncommon type of diabetes
44. Hyperinsulinism associated with gestational exposure to bupropion in a newborn infant
45. Child abuse suspicion masquerading new onset insulin dependent diabetes mellitus
46. Identification of two novel BCKDHA mutations in a Chinese patient with maple syrup urine disease
47. Unexpected finding of an intact distal vagina in an infant with mixed gonadal dysgenesis
48. Acrogigantism and facial asymmetry: McCune-Albright syndrome
49. Surgical enucleation of testicular leydigioma in a young child: case report and literature review
50. A rare case of severe lactic acidosis in a preterm infant: lack of thiamine during total parenteral nutrition
51. Autoimmune polyendocrinopathy associated with ring chromosome 18
52. SADDAN syndrome
53. Primary adrenal insufficiency in a child after busulfan and cyclophosphamide-based conditioning for hematopoietic stem cell transplantation
54. Letters to the Editor
55. Maple syrup urine disease in mainland China
56. Evidence does not support the conclusion that soy is an endocrine disruptor
57. Medical iodophobia is contagious
58. Meetings
59. Meetings Calendar