Future directions in the study and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Annals of Internal Medicine

Volumn 136, Issue 4, 2002, Pages 320-334

  Merke, Deborah P ^a   Bornstein, Stefan R ^a   Avila, Nilo A ^a   Chrousos, George P ^a  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN; CORTICOTROPIN; CORTICOTROPIN RELEASING FACTOR; CORTICOTROPIN RELEASING FACTOR ANTAGONIST; ESTROGEN; GLUCOCORTICOID; HYDROCORTISONE; MINERALOCORTICOID; STEROID 21 MONOOXYGENASE;

ADRENAL CORTEX ADENOMA; ADRENAL CORTEX TUMOR; ADRENAL INSUFFICIENCY; ADRENAL MEDULLA; ADRENALECTOMY; ANIMAL MODEL; ANXIETY NEUROSIS; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 6; CONFERENCE PAPER; CONGENITAL ADRENAL HYPERPLASIA; CORTICOTROPIN RELEASE; DEPRESSION; DISEASE SEVERITY; ENZYME DEFECT; ENZYME DEFICIENCY; FEMALE INFERTILITY; GENE THERAPY; GENETIC VARIABILITY; GENOTYPE; HYPERADRENOCORTICISM; HYPERANDROGENISM; MENTAL DISEASE; OVARY POLYCYSTIC DISEASE; PHENOTYPE; PRIORITY JOURNAL; STRUCTURE ACTIVITY RELATION; VIRILIZATION; ANIMAL; CONSENSUS DEVELOPMENT; FEMALE; GENETICS; HUMAN; MALE;

ADRENAL HYPERPLASIA, CONGENITAL; ANIMALS; FEMALE; HUMANS; MALE; MODELS, ANIMAL; STEROID 21-HYDROXYLASE;

EID: 0037133083     PISSN: 00034819     EISSN: None     Source Type: Journal    
DOI: 10.7326/0003-4819-136-4-200202190-00012     Document Type: Conference Paper

References (91)

1. Congenital adrenal hyperplasia
2. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Newborn screening and its relationship to the diagnosis and treatment of the disorder
3. Diagnosis and management of congenital adrenal hyperplasia
4. Congenital adrenal hyperplasia (1)
5. Further studies on the treatment of congenital adrenal hyperplasia with cortisone: IV. Effect of cortisone and compound B in infants with disturbed electrolyte metabolism
6. Further studies on the treatment of congenital adrenal hyperplasia with cortisone: IV. Effect of cortisone and compound B in infants with disturbed electrolyte metabolism
7. Lethal deletion of the complement component C4 and steroid 21-hydroxylase genes in the mouse H-2 class III region, caused by meiotic recombination
8. Prenatal dexamethasone treatment does not prevent alterations of the hypothalamic pituitary adrenal axis in steroid 21-hydroxylase deficient mice
9. Adrenomedullary function is severely impaired in 21-hydroxylase-deficient mice
10. Restoration of adrenal steroidogenesis by adenovirus-mediated transfer of human cytochrome P450 21-hydroxylase into the adrenal gland of 21-hydroxylase-deficient mice
11. Adrenomedullary dysplasia and hypofunction in patients with classic 21-hydroxylase deficiency
12. New approaches to the treatment of congenital adrenal hyperplasia
13. Growth and final height in classical and nonclassical 21-hydroxylase deficiency
14. Final height in 69 patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
15. Glucocorticoid treatment of girls with congenital adrenal hyperplasia: Effects on height, sexual maturation, and fertility
16. Fertility rates in female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
17. A preliminary study of fluramide, testolactone, and reduced hydrocortisone dose in the treatment of congenital adrenal hyperplasia
18. Fluramide, testolactone, and reduced hydrocortisone dose maintain normal growth velocity and bone maturation despite elevated androgen levels in children with congenital adrenal hyperplasia
19. The use of adrenalectomy as a treatment for congenital adrenal hyperplasia
20. Chronic effects of a nonpeptide corticotropin-releasing hormone type I receptor antagonist on pituitary-adrenal function, body weight, and metabolic regulation
21. Delayed diagnosis in congenital adrenal hyperplasia. Need for newborn screening
22. Late-onset 21-hydroxylase deficiency is an allelic variant of congenital adrenal hyperplasia characterized by attenuated clinical expression and different HLA haplotype associations
23. Testicular adrenal rest tissue in congenital adrenal hyperplasia: Findings at Grayscale and color Doppler US
24. Testicular adrenal-like tissue (TALT) in congenital adrenal hyperplasia: Detection by ultrasonography
25. Congenital adrenal hyperplasia (2)
26. Polymorphism of the human complement C4 and steroid 21-hydroxylase genes. Restriction fragment length polymorphisms revealing structural deletions, homoduplications, and size variants
27. Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): Implications for diagnosis, prognosis and treatment
28. Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency
29. Steroid 21-hydroxylase deficiency: Genotype may not predict phenotype
30. Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: Implications for genetic diagnosis and association with disease manifestation
31. Two steroid 21-hydroxylase genes are located in the murine S region
32. Steroid 21-hydroxylase deficiency in mice
33. The pathophysiology and genetics of congenital lipoid adrenal hyperplasia
34. Environmental influences in the development of neural crest derivatives: Glucocorticoids, growth factors, and chromaffin cell plasticity
35. Stress hormones: Their interaction and regulation
36. Control of enzymatic synthesis of adrenaline in the adrenal medulla by adrenal cortical steroids
37. Adrenocortical control of the biosynthesis of epinephrine and proteins in the adrenal medulla
38. Glucocorticoids stimulate transcription of the rat phenylethanolamine N-methyltransferase (PNMT) gene in vivo and in vitro
39. Epinephrine deficiency in hypocorticotropic hypopituitary children
40. Plasma catecholamines in patients with Addison's disease
41. Survival of steroid 21-hydroxylase-deficient mice without endogenous corticosteroids after neonatal treatment and genetic rescue by transgenesis as a model system for treatment of congenital adrenal hyperplasia in humans
42. Successful expression of beta-galactosidase and factor IX transgenes in fetal and neonatal sheep after ultrasound-guided percutaneous adenovirus vector administration into the umbilical vein
43. Clinical review 104: Adrenocorticotropin (ACTH)- and non-ACTH-mediated regulation of the adrenal cortex: Neural and immune inputs
44. Adrenocortical tumors: Recent advances in basic concepts and clinical management
45. Intraadrenal interactions in the regulation of adrenocortical steroidogenesis
46. Paracrine and neuroendocrine regulation of the adrenal gland - Basic and clinical aspects
47. Functional innervation of the adrenal cortex by the splanchnic nerve
48. Effects of splanchnic nerve stimulation on the adrenal cortex may be mediated by chromaffin cells in a paracrine manner
49. Knocking out the stress response
50. Prenatal diagnosis and management of congenital adrenal hyperplasia
51. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
52. Therapeutic controversy: The role of laparoscopic surgery in adrenal disease
53. Adrenal lymphocytic infiltration and adrenocortical tumors in a patient with 21-hydroxylase deficiency
54. Prophylactic adrenalectomy of a three-year-old girl with congenital adrenal hyperplasia: Pre- and postoperative studies
55. 11 Beta-hydroxylase deficiency: Management of a difficult case by laparoscopic bilateral adrenalectomy
56. Adrenalectomy as therapy in refractory adrenogenital syndrome
57. Ovarian steroidogenesis in an adrenalectomized girl with 21-hydroxylase deficiency
58. Late-onset 21-hydroxylase deficiency mimicking idiopathic hirsutism or polycystic ovarian disease
59. The hypothalamic-pituitary adrenal axis in partial (late-onset) 21-hydroxylase deficiency
60. Clinical review 56: Nonclassic adrenal hyperplasia: Current concepts
61. Genotyping steroid 21-hydroxylase deficiency: Hormonal reference data
62. Screening for 21-hydroxylase-deficient nonclassic adrenal hyperplasia among hyperandrogenic women: A prospective study
63. The effects of long term testosterone administration on pulsatile luteinizing hormone secretion and on ovarian histology in eugonadal female to male transsexual subjects
64. Evaluation of the infant who has ambiguous genitalia, and principles of operative management
65. Congenital adrenal hyperplasia in the adult patient
66. Hyperandrogenism and manifesting heterozygotes for 21-hydroxylase deficiency
67. High incidence of molecular defects of the CYP21 gene in patients with premature adrenarche
68. Isolated precocious pubarche: An approach
69. Unilateral testicular enlargement resulting from inapparent 21-hydroxylase deficiency
70. Adrenal incidentaloma and patients with homozygous or heterozygous congenital adrenal hyperplasia
71. Extensive personal experience: Adrenocortical tumors
72. Tumors of the adrenogenital syndrome: An aggressive conservative approach
73. The testicular "tumor" of the adrenogenital syndrome. A report of six cases and review of the literature on testicular masses in patients with adrenocortical disorders
74. Steroidogenic enzyme activities, morphology, and receptor studies of a testicular adrenal rest in a patient with congenital adrenal hyperplasia
75. Bilateral testicular tumours in congenital adrenal hyperplasia: A continuing diagnostic and therapeutic dilemma
76. Celiac accessory adrenal glands
77. Accessory adrenal cortex in the broad ligament: Incidence and functional significance
78. An adrenal cortical rest within the fetal ovary: Report of a case
79. Ovarian adrenal-like tissue in congenital adrenal hyperplasia
80. Testicular adrenal rest tissue in congenital adrenal hyperplasia: Comparison of MR imaging and sonographic findings
81. Testicular adrenal rest tissue in congenital adrenal hyperplasia: Serial sonographic and clinical findings
82. Gonadal and adrenal catheterization during adrenal suppression and gonadal stimulation in a patient with bilateral testicular tumors and congenital adrenal hyperplasia
83. Cortisol production by testicular tumors in a patient with congenital adrenal hyperplasia (21-hydroxylase deficiency)
84. Benign testicular tumors in children with congenital adrenal hyperplasia
85. Intratesticular masses associated with abnormally functioning adrenal glands
86. The testicular 'tumour' of adrenogenital syndrome: An unusual cause of male infertility
87. The concepts of stress and stress system disorders. Overview of physical and behavioral homeostasis
88. In vivo and in vitro characterization of antalarmin, a nonpeptide corticotropinreleasing hormone (CRH) receptor antagonist: Suppression of pituitary ACTH release and peripheral inflammation
89. The impact of the nonpeptide corticotropin-releasing hormone antagonist antalarmin on behavioral and endocrine responses to stress
90. Interactions between the hypothalamicpituitary-adrenal axis and the female reproductive system: Clinical implications