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Domestic Shorthair — Androgen insensitivity syndrome (AIS) (hereditary; OMIA-verified breed predisposition)

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--- license: permission_granted topic_id: companion_breed_health_domestic_shorthair_omia1713_cat category: companion-breed-health title: "Domestic Shorthair — Androgen insensitivity syndrome (AIS) (hereditary; OMIA-verified breed predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-02 from local OMIA database dump." source_file: pdf-raw/breed-health/domestic_shorthair_omia1713_1713.txt date_parsed: 2026-08-02 tokens_estimated: 419 verification: method: substring_match claims: 10 passed: 10 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_domestic_shorthair_omia1713_cat/01_companion_breed_health_domestic_shorthair_omia1713_cat.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Domestic Shorthair — Androgen insensitivity syndrome (AIS) (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA000991/9685/" retrieved: "2026-08-02" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false

Domestic Shorthair — Androgen insensitivity syndrome (AIS) (hereditary; OMIA-verified breed predisposition)

Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.

Claims

  • Breed: Domestic Shorthair (Cat)
  • Disorder:
  • Mode of inheritance: X-linked
  • Summary: Testicular feminization syndrome is a type of XY Disorder of Sexual Development (DSD) in which the androgen receptor is nonfunctional, causing complete androgen insensitivity syndrome (CAIS). Affected cats have a normal male karyotype (38,XY) and develop testes, but develop into phenotypic females that are sterile. It is an X-linked trait. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT
  • Clin feat: Affected cats appear to be phenotypically normal females, but fail to exhibit estrous cycles at the age of puberty (primary anesrus). Affected cats have a male karyotype (38,XY) and undescended testes, but no other male or female reproductive organs are found internally (Meyers-Wallen et al., 1989).
  • Defect: yes
  • Pathology: As the androgen receptor is nonfunctional, the testosterone signaling pathway is interrupted, which causes complete failure of androgen-dependent masculinization in the internal and external genitalia. Affected cats lack epididymides and vasa deferentia and develop labia, a clitoris and a blind-ending caudal vagina. As the testes produce Müllerian inhibiting substance as expected, the Müllerian duct system regresses normally, causing absence of the oviducts, uterus, and cranial vagina (Meyers-Wallen et al., 1989).
  • Prevalence: Rare
  • Control: Further breeding of the dam of the affected cat is not recommended.
  • Gen test: Cats can be tested for a qualitative or quantitative defect in the androgen receptor by testing androgen binding in genital fibroblasts (Meyers-Wallen et al., 1989).

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose.

  • 1989. Testicular feminization in a cat.. J Am Vet Med Assoc — PubMed:PMID2599922 — OMIA Phene_Article / Article
  • 1993. Genetics of sexual differentiation and anomalies in dogs and cats.. J Reprod Fertil Suppl — PubMed:PMID8229960 — OMIA Phene_Article / Article
  • 1989. Testicular feminization in a cat.. J Am Vet Med Assoc — PubMed:PMID2777713 — OMIA Phene_Article / Article

Comparative medicine (human OMIM)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. Links this animal disorder to its human OMIM entry for comparative/translational context.

  • OMIM:300068 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:313700 (type: gene) — OMIA Group_OMIM (via OMIA_ID)

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose.

  • 1989. Testicular feminization in a cat. J Am Vet Med Assoc — PubMed:PMID2599922 — OMIA Phene_Article / Article
  • 1993. Genetics of sexual differentiation and anomalies in dogs and cats. J Reprod Fertil Suppl — PubMed:PMID8229960 — OMIA Phene_Article / Article
  • 1989. Testicular feminization in a cat. J Am Vet Med Assoc — PubMed:PMID2777713 — OMIA Phene_Article / Article

Comparative medicine (human OMIM)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. Links this animal disorder to its human OMIM entry for comparative/translational context.

  • OMIM:300068 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:313700 (type: gene) — OMIA Group_OMIM (via OMIA_ID)

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

  • 1989. Testicular feminization in a cat. J Am Vet Med Assoc — PubMed:PMID2599922 — OMIA Phene_Article / Article
  • 1993. Genetics of sexual differentiation and anomalies in dogs and cats. J Reprod Fertil Suppl — PubMed:PMID8229960 — OMIA Phene_Article / Article
  • 1989. Testicular feminization in a cat. J Am Vet Med Assoc — PubMed:PMID2777713 — OMIA Phene_Article / Article

Comparative medicine (human OMIM)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

  • OMIM:300068 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:313700 (type: gene) — OMIA Group_OMIM (via OMIA_ID)

verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

  • 1989. Testicular feminization in a cat. J Am Vet Med Assoc — PubMed:PMID2599922 — OMIA Phene_Article / Article
  • 1993. Genetics of sexual differentiation and anomalies in dogs and cats. J Reprod Fertil Suppl — PubMed:PMID8229960 — OMIA Phene_Article / Article
  • 1989. Testicular feminization in a cat. J Am Vet Med Assoc — PubMed:PMID2777713 — OMIA Phene_Article / Article

Comparative medicine (human OMIM)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

  • OMIM:300068 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:313700 (type: gene) — OMIA Group_OMIM (via OMIA_ID)

verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

  • 1989. Testicular feminization in a cat. J Am Vet Med Assoc — PubMed:PMID2599922 — OMIA Phene_Article / Article
  • 1993. Genetics of sexual differentiation and anomalies in dogs and cats. J Reprod Fertil Suppl — PubMed:PMID8229960 — OMIA Phene_Article / Article
  • 1989. Testicular feminization in a cat. J Am Vet Med Assoc — PubMed:PMID2777713 — OMIA Phene_Article / Article

Comparative medicine (human OMIM)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

  • OMIM:300068 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:313700 (type: gene) — OMIA Group_OMIM (via OMIA_ID)

verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."

Sources

Domestic Shorthair — Androgen insensitivity syndrome (AIS) (hereditary; OMIA-verified breed predisposition)
companion-breed-healthPMID 2599922

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