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Complete androgen insensitivity syndrome

Congenital Malformations and Chromosomal Abnormalities

Complete androgen insensitivity syndrome, or CAIS, is a condition in which the body's cells are completely unable to respond to androgens. The insensitivity becomes clinically significant only in individuals exposed to significant amounts of testosterone at some point in their lives, since the lack of cellular response to androgenic hormones prevents the masculinization of male genitalia in the developing fetus and blocks the development of male secondary sexual characteristics at puberty, while allowing female genital and sexual development to proceed largely without impairment.

Facts
Classification
Body System
Endocrine System 1
ICD-10 Chapter
XVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2
Communicable or Non-communicable
Non-Communicable 3
Transmission Route
Non-Transmissible 3
First Described
1817 5
Prevalence Band
Rare (Under 1 in 2000) 6
Causative Agent
Causative Agent (category)
Genetic / Hereditary 4
Sources
1. National Cancer Institute (NCI Thesaurus): Complete androgen insensitivity syndrome - NCI Thesaurus concept C120191
National Cancer Institute (NCI Thesaurus)Role: Disease_Has_Primary_Anatomic_Site
Quote, Role: Disease_Has_Primary_Anatomic_Site
"type": "Disease_Has_Primary_Anatomic_Site", "relatedCode": "C12705", "relatedName": "Endocrine System"
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2. Wikipedia: ICD-10
WikipediaList of chapters, Chapter XVII
Quote, List of chapters, Chapter XVII
Congenital malformations, deformations and chromosomal abnormalities
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3. Wikipedia: Non-communicable disease
Wikipedia
  • Lead section, transmission-route statement (inferred from disease-category)
    Genetic disorders are caused by errors in genetic information that produce diseases in the affected people.
  • Inherited/genetic diseases section
    Genetic disorders are caused by errors in genetic information that produce diseases in the affected people.
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4. Orphanet (INSERM): Orphanet: Complete androgen insensitivity syndrome (ORPHA:99429)
Orphanet (INSERM)DisorderGeneAssociation
Quote, DisorderGeneAssociation
"DisorderGeneAssociationType": "Disease-causing germline mutation(s) in"
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5. Complete androgen insensitivity syndrome (Wikipedia)
History section
Quote, History section
The first definitive description of CAIS was reported in 1817.
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6. Orphadata (Orphanet): Orphadata epidemiology for ORPHA:99429 Complete androgen insensitivity syndrome
Orphadata (Orphanet)Prevalence, Worldwide
Quote, Prevalence, Worldwide
"PrevalenceClass": "1-9 / 1 000 000", "PrevalenceGeographic": "Worldwide"
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