Late onset X-linked adrenal hypoplasia congenita with hypogonadotropic hypgonadism due to a novel 4-bp deletion in exon 2 of NR0B1

Articles in the same Issue

1. Frontmatter
2. Highlight: Cushing syndrome
3. Fundamental principles of clinical and biochemical evaluation underlie the diagnosis and therapy of Cushing’s syndrome
4. Cushing syndrome secondary to CRH-producing Wilms tumor in a 6 year old
5. Cushing’s disease presenting as cholestatic hepatitis
6. How early can one diagnose Cushing’s disease? An early diagnosis in a case of prepubertal Cushing’s disease
7. Review article
8. Subclinical hypothyroidism in childhood and adolescense
9. Original articles
10. Energy substrate metabolism in pyruvate dehydrogenase complex deficiency
11. Chromosome 6q24 transient neonatal diabetes mellitus and protein sensitive hyperinsulinaemic hypoglycaemia
12. Measures of pituitary gland and stalk: from neonate to adolescence
13. Are preterm newborns who have relative hyperthyrotropinemia at increased risk of brain damage?
14. Pseudohypoparathyroidism vs. tricho-rhino-phalangeal syndrome: patient reclassification
15. Association of serum 25-hydroxyvitamin D with race/ethnicity and constitutive skin color in urban schoolchildren
16. A nonsense thyrotropin receptor gene mutation (R609X) is associated with congenital hypothyroidism and heart defects
17. Acanthosis nigricans, vitamin D, and insulin resistance in obese children and adolescents
18. Clinical characteristics and chromosome 11p15 imprinting analysis of Silver-Russell syndrome – a Chinese experience
19. Change in reference body mass index percentiles and deviation in overweight and obesity over 3 years in Turkish children and adolescents
20. Long-term outcomes of pediatric Graves’ disease
21. Accessibility of the reference center as a protective factor against ketoacidosis at the onset of diabetes in children
22. Vitamin D, parathormone, and insulin resistance in children born large for gestational age
23. Prevalence of vitamin D deficiency in apparently healthy children in north India
24. Prevalence of autoantibodies in type 1 diabetes patients and its association with the clinical presentation – UAE Eastern Region experience
25. Clinical and molecular studies related to bone metabolism in patients with congenital adrenal hyperplasia
26. Islet neogenesis-associated protein-related pentadecapeptide improves the function of allograft after islets transplantation
27. Anti-Mullerian hormone may be a useful adjunct in the diagnosis of polycystic ovary syndrome in nonobese adolescents
28. Early infant feeding practice and childhood obesity: the relation of breast-feeding and timing of solid food introduction with childhood obesity
29. Late onset X-linked adrenal hypoplasia congenita with hypogonadotropic hypgonadism due to a novel 4-bp deletion in exon 2 of NR0B1
30. The correlation between GnRH stimulation testing and obstetric ultrasonographic parameters in precocious puberty
31. The DATAC study: a new growth database. Description of the epidemiology, diagnosis and therapeutic attitude in a group of Spanish children with short stature
32. Concentrations of tumour necrosis factor-α and its soluble receptors in the serum of teenagers with atherosclerosis risk factors: obesity or obesity combined with hypertension
33. Are HDL levels lower in children with type 1 diabetes and concurrent celiac disease compared with children with type 1 diabetes only?
34. Patient reports
35. Hereditary vitamin D rickets: a case series in a family
36. Two heterozygous mutations of the AMH gene in a Japanese patient with persistent Müllerian duct syndrome
37. Two case reports of severe pediatric hyperosmolar hyperglycemia and diabetic ketoacidosis accompanied with rhabdomyolysis and acute renal failure
38. Acquired hypothyroidism due to iodine deficiency in an American child
39. Continuous subcutaneous IGF-1 therapy via insulin pump in a patient with Donohue syndrome
40. Amylase/creatinine clearance ratio in diabetic ketoacidosis: a case report
41. Worsening hypertriglyceridemia with oral contraceptive pills in an adolescent with HIV-associated lipodystrophy: a case report and review of the literature
42. Congenital hyperinsulinism in a newborn with a novel homozygous mutation (p.Q392H) in the ABCC8 gene
43. Short communications
44. Polyglandular autoimmune syndrome type I – a novel AIRE mutation in a North American patient
45. Post-hemorrhagic hydrocephalus and diabetes insipidus in preterm infants
46. Two novel mutations in acid α-glucosidase gene in two patients with Pompe disease
47. Letter to the Editor
48. And what about septin 9 (SEPT9) as a binding partner of survivin in heart regeneration?