KEGG   DISEASE: Congenital adrenal hyperplasia
Entry
H00216                      Disease                                
Name
Congenital adrenal hyperplasia
  Subgroup
Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete [DS:H02314]
Disordered steroidogenesis due to cytochrome P450 oxidoreductase [DS:H02315]
  Supergrp
46,XY disorder of sex development due to testosterone secretion defect [DS:H00608]
Male hypogonadism [DS:H02027]
Description
Congenital adrenal hyperplasia (CAH) is a group of monogenic autosomal recessive disorders due to an enzyme deficiency in steroid biosynthesis. All the adrenal hyperplasia syndromes are examples of mixed hypo- and hyperadrenocorticism.
Category
Endocrine and metabolic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Disorders of the adrenal glands or adrenal hormone system
    5A71  Adrenogenital disorders
     H00216  Congenital adrenal hyperplasia
Pathway-based classification of diseases [BR:br08402]
 Lipid/glycolipid metabolism
  nt06019  Steroid hormone biosynthesis
   H00216  Congenital adrenal hyperplasia
Pathway
hsa00140  Steroid hormone biosynthesis
Network
nt06019 Steroid hormone biosynthesis
Gene
STAR [HSA:6770] [KO:K16931]
HSD3B2 [HSA:3284] [KO:K00070]
CYP21A2 [HSA:1589] [KO:K00513]
CYP11B1 [HSA:1584] [KO:K00497]
CYP17A1 [HSA:1586] [KO:K00512]
Drug
Triamcinolone acetonide [DR:D00983]
Dexamethasone [DR:D00292]
Dexamethasone sodium phosphate [DR:D00975]
Prednisolone [DR:D00472]
Prednisolone sodium phosphate [DR:D00981]
Prednisone [DR:D00473]
Methylprednisolone [DR:D00407]
Methylprednisolone sodium succinate [DR:D00751]
Methylprednisolone acetate [DR:D00979]
Cortisone acetate [DR:D00973]
Crinecerfont [DR:D12366]
Other DBs
ICD-11: 5A71.01
ICD-10: E25.0
MeSH: D000312
OMIM: 201710 201810 201910 202010 202110
Reference
PMID:18844712
  Authors
Demirci C, Witchel SF
  Title
Congenital adrenal hyperplasia.
  Journal
Dermatol Ther 21:340-53 (2008)
DOI:10.1111/j.1529-8019.2008.00216.x
Reference
PMID:18574213
  Authors
Lin-Su K, Nimkarn S, New MI
  Title
Congenital adrenal hyperplasia in adolescents: diagnosis and management.
  Journal
Ann N Y Acad Sci 1135:95-8 (2008)
DOI:10.1196/annals.1429.021
Reference
PMID:15554890
  Authors
Charmandari E, Brook CG, Hindmarsh PC
  Title
Classic congenital adrenal hyperplasia and puberty.
  Journal
Eur J Endocrinol 151 Suppl 3:U77-82 (2004)
DOI:10.1530/eje.0.151U077
Reference
PMID:12930931
  Authors
Speiser PW, White PC
  Title
Congenital adrenal hyperplasia.
  Journal
N Engl J Med 349:776-88 (2003)
DOI:10.1056/NEJMra021561
Reference
PMID:16906539
  Authors
Williamson L, Arlt W, Shackleton C, Kelley RI, Braddock SR
  Title
Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency.
  Journal
Am J Med Genet A 140A:1797-803 (2006)
DOI:10.1002/ajmg.a.31385
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