Congenital adrenal hyperplasia in children – a survey on the current practice in the UK

Artikel in diesem Heft

1. Frontmatter
2. Highlight: Thyroid
3. Thyroid disorders revisited
4. Genetic analysis of the paired box transcription factor (PAX8) gene in a cohort of Polish patients with primary congenital hypothyroidism and dysgenetic thyroid glands
5. Prognostic factors in pediatric differentiated thyroid cancer patients with pulmonary metastases
6. Reclassification of cytologically atypical thyroid nodules based on radiologic features in pediatric patients
7. Evaluation of inflammatory and oxidative biomarkers in children with well-controlled congenital hypothyroidism
8. Investigation of autoimmune diseases accompanying Hashimoto’s thyroiditis in children and adolescents and evaluation of cardiac signs
9. Neonatal thyroid storm accompanied with severe anaemia
10. Functional characterization of the novel sequence variant p.S304R in the hinge region of TSHR in a congenital hypothyroidism patients and analogy with other formerly known mutations of this gene portion
11. Subclinical hypothyroidism as a rare cofactor in chronic kidney disease (CKD) – related anemia
12. Cytometric analysis of perforin expression in NK cells, CD8+, and CD4+ lymphocytes in children with autoimmune Hashimoto’s thyroiditis – a preliminary study
13. Papillary thyroid cancer and autoimmune polyglandular syndrome
14. Review article
15. Should radioiodine be the first-line treatment for paediatric Graves’ disease?
16. Image in pediatric endrocrinology
17. Diffusion-weighted magnetic resonance imaging in a case of severe classic maple syrup urine disease
18. Original articles
19. Novel mutations of DAX1 (NR0B1) in two Chinese families with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
20. Rickets and vitamin D deficiency in Alaska native children
21. Persistent elevation of fibroblast growth factor 23 concentrations in healthy appropriate-for-gestational-age preterm infants
22. Parents’ experiences of having a baby with ambiguous genitalia
23. Effect of GnRHa 3.75 mg subcutaneously every 6 weeks on adult height in girls with idiopathic central precocious puberty
24. Congenital adrenal hyperplasia in children – a survey on the current practice in the UK
25. Randomized clinical trial evaluating metformin versus oral contraceptive pills in the treatment of adolescents with polycystic ovarian syndrome
26. Influence of the body weight on the onset and progression of puberty in boys
27. Therapy monitoring in congenital adrenal hyperplasia by dried blood samples
28. Hyperinsulinemic hypoglycemia: think of hyperinsulinism/hyperammonemia (HI/HA) syndrome caused by mutations in the GLUD1 gene
29. Sulfonylurea in the treatment of neonatal diabetes mellitus children with heterogeneous genetic backgrounds
30. Monitoring gonadotropin-releasing hormone analogue (GnRHa) treatment in girls with central precocious puberty: a comparison of four methods
31. Dietary intake, body composition, and physical activity among young patients with type 1 diabetes mellitus
32. Metabolic syndrome in obese children and adolescents in Serbia: prevalence and risk factors
33. Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophy
34. Patient reports
35. 17α-Hydroylase/17,20-lyase deficiency related to P.Y27*(c.81C>A) mutation in CYP17A1 gene
36. A patient developing anaphylaxis and sensitivity to two different GnRH analogues and a review of literature
37. Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene
38. Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty
39. Case report: long-term follow-up of a 45,X male with SHOX haploinsufficiency
40. Antenatal Bartter syndrome presenting as hyperparathyroidism with hypercalcemia and hypercalciuria: a case report and review
41. Successful use of continuous subcutaneous hydrocortisone infusion after bilateral adrenalectomy secondary to bilateral pheochromocytoma
42. Donohue syndrome: a new case with a new complication
43. Euprolactinemic galactorrhea secondary to domperidone treatment
44. 17βHSD-3 enzyme deficiency due to novel mutations in the HSD17B3 gene diagnosed in a neonate
45. Two different patterns of mini-puberty in two 46,XY newborns with 17β-hydroxysteroid dehydrogenase type 3 deficiency
46. Short communication
47. Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1