KEGG   DISEASE: H00608Help
Entry
H00608                      Disease                                

Name
46,XY disorders of sex development (Disorders in androgen synthesis or action), including:
Congenital adrenal hyperplasias;
Leydig cell hypoplasia;
Androgen insensitivity syndrome (AIS)
Description
46,XY disorders of sex development (46,XY DSD) can be endocrine-related. Several enzymatic defects that result in insufficient production of testosterone have been reported. These androgen defects and impaired differentiation of Leydig cell, which secretes testosterone, can lead to ambiguous or completely feminized genitalia in 46,XY individuals. Furthermore, defective androgen action due to androgen receptor defects also cause feminization of 46,XY fetuses although they have normal levels of testosterone.
Category
Reproductive system disease
Brite
Human diseases [BR:br08402]
 Reproductive system diseases
  Reproductive system disease
   H00608  46,XY disorders of sex development (Disorders in androgen synthesis or action)
Human diseases in ICD-10 classification [BR:br08403]
 4. Endocrine, nutritional and metabolic diseases (E00-E90)
  E20-E35  Disorders of other endocrine glands
   E25  Adrenogenital disorders
    H00608  46,XY disorders of sex development (Disorders in androgen synthesis or action)
   E34  Other endocrine disorders
    H00608  46,XY disorders of sex development (Disorders in androgen synthesis or action)
 17. Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
  Q50-Q56  Congenital malformations of genital organs
   Q56  Indeterminate sex and pseudohermaphroditism
    H00608  46,XY disorders of sex development (Disorders in androgen synthesis or action)
  Q80-Q89  Other congenital malformations
   Q87  Other specified congenital malformation syndromes affecting multiple systems
    H00608  46,XY disorders of sex development (Disorders in androgen synthesis or action)
BRITE hierarchy
Pathway
Oocyte meiosis
Steroid hormone biosynthesis
Calcium signaling pathway
Neuroactive ligand-receptor interaction
Gene
(AIS) AR [HSA:367] [KO:K08557]
(Leydig) LHCGR [HSA:3973] [KO:K04248]
STAR [HSA:6770] [KO:K16931]
CYP11A1 [HSA:1583] [KO:K00498]
CYP17 [HSA:1586] [KO:K00512]
HSD3B2 [HSA:3284] [KO:K00070]
HSD17B3 [HSA:3293] [KO:K10207]
POR [HSA:5447] [KO:K00327]
SRD5A2 [HSA:6716] [KO:K12344]
DHCR7 [HSA:1717] [KO:K00213]
Other DBs
Reference
PMID:18279784 (description, gene)
  Authors
Hughes IA
  Title
Disorders of sex development: a new definition and classification.
  Journal
Best Pract Res Clin Endocrinol Metab 22:119-34 (2008)
Reference
PMID:18811725 (description, gene)
  Authors
Mendonca BB, Domenice S, Arnhold IJ, Costa EM
  Title
46,XY disorders of sex development (DSD).
  Journal
Clin Endocrinol (Oxf) 70:173-87 (2009)
Reference
PMID:20301714 (description, gene)
  Authors
Ostrer H
  Title
46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis
  Journal
(1993)
Reference
PMID:21397195 (description, gene)
  Authors
Rey RA, Grinspon RP
  Title
Normal male sexual differentiation and aetiology of disorders of sex development.
  Journal
Best Pract Res Clin Endocrinol Metab 25:221-38 (2011)
Reference
PMID:16327292 (description)
  Authors
Frimberger D, Gearhart JP
  Title
Ambiguous genitalia and intersex.
  Journal
Urol Int 75:291-7 (2005)

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