{"topic_id":"companion_breed_health_domestic_shorthair_omia1713_cat","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_domestic_shorthair_omia1713_cat\ncategory: companion-breed-health\ntitle: \"Domestic Shorthair — Androgen insensitivity syndrome (AIS) (hereditary; OMIA-verified breed predisposition)\"\nlang: en\nsource: \"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.\"\nsource_file: pdf-raw/breed-health/domestic_shorthair_omia1713_1713.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 419\nverification:\n  method: substring_match\n  claims: 10\n  passed: 10\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_domestic_shorthair_omia1713_cat/01_companion_breed_health_domestic_shorthair_omia1713_cat.md\nsource_document: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\ncitation:\n  authority: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\n  title: \"Domestic Shorthair — Androgen insensitivity syndrome (AIS) (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA000991/9685/\"\n  retrieved: \"2026-08-02\"\n  ref: \"OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70\"\n  doc_type: \"academic animal-genetics database (breed-specific disorder entries)\"\n  needs_review: false\n\n\n# Domestic Shorthair — Androgen insensitivity syndrome (AIS) (hereditary; OMIA-verified breed predisposition)\n\nSource: 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.\n\n## Claims\n\n- `Breed: Domestic Shorthair (Cat)`\n- `Disorder: `\n- `Mode of inheritance: X-linked`\n- `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`\n- `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).`\n- `Defect: yes`\n- `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).`\n- `Prevalence: Rare`\n- `Control: Further breeding of the dam of the affected cat is not recommended.`\n- `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).`\n## Evidence (references)\nDerived from OMIA database dump (omia.xml, local); structured field, not verbatim prose.\n- 1989. Testicular feminization in a cat.. J Am Vet Med Assoc — PubMed:PMID2599922 — OMIA Phene_Article / Article\n- 1993. Genetics of sexual differentiation and anomalies in dogs and cats.. J Reprod Fertil Suppl — PubMed:PMID8229960 — OMIA Phene_Article / Article\n- 1989. Testicular feminization in a cat.. J Am Vet Med Assoc — PubMed:PMID2777713 — OMIA Phene_Article / Article\n\n## Comparative medicine (human OMIM)\nDerived 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.\n- OMIM:300068 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:313700 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n## Evidence (references)\nDerived from OMIA database dump (omia.xml, local); structured field, not verbatim prose.\n- 1989. Testicular feminization in a cat. J Am Vet Med Assoc — PubMed:PMID2599922 — OMIA Phene_Article / Article\n- 1993. Genetics of sexual differentiation and anomalies in dogs and cats. J Reprod Fertil Suppl — PubMed:PMID8229960 — OMIA Phene_Article / Article\n- 1989. Testicular feminization in a cat. J Am Vet Med Assoc — PubMed:PMID2777713 — OMIA Phene_Article / Article\n\n## Comparative medicine (human OMIM)\nDerived 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.\n- OMIM:300068 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:313700 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n## Evidence (references)\nDerived 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.\n- 1989. Testicular feminization in a cat. J Am Vet Med Assoc — PubMed:PMID2599922 — OMIA Phene_Article / Article\n- 1993. Genetics of sexual differentiation and anomalies in dogs and cats. J Reprod Fertil Suppl — PubMed:PMID8229960 — OMIA Phene_Article / Article\n- 1989. Testicular feminization in a cat. J Am Vet Med Assoc — PubMed:PMID2777713 — OMIA Phene_Article / Article\n\n## Comparative medicine (human OMIM)\nDerived 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.\n- OMIM:300068 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:313700 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\nverification_derived:\n  method: derived_from_dataset\n  source: \"OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM\"\n  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.\"\n## Evidence (references)\nDerived 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.\n- 1989. Testicular feminization in a cat. J Am Vet Med Assoc — PubMed:PMID2599922 — OMIA Phene_Article / Article\n- 1993. Genetics of sexual differentiation and anomalies in dogs and cats. J Reprod Fertil Suppl — PubMed:PMID8229960 — OMIA Phene_Article / Article\n- 1989. Testicular feminization in a cat. J Am Vet Med Assoc — PubMed:PMID2777713 — OMIA Phene_Article / Article\n\n## Comparative medicine (human OMIM)\nDerived 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.\n- OMIM:300068 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:313700 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\nverification_derived:\n  method: derived_from_dataset\n  source: \"OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM\"\n  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.\"\n## Evidence (references)\nDerived 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.\n- 1989. Testicular feminization in a cat. J Am Vet Med Assoc — PubMed:PMID2599922 — OMIA Phene_Article / Article\n- 1993. Genetics of sexual differentiation and anomalies in dogs and cats. J Reprod Fertil Suppl — PubMed:PMID8229960 — OMIA Phene_Article / Article\n- 1989. Testicular feminization in a cat. J Am Vet Med Assoc — PubMed:PMID2777713 — OMIA Phene_Article / Article\n\n## Comparative medicine (human OMIM)\nDerived 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.\n- OMIM:300068 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:313700 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\nverification_derived:\n  method: derived_from_dataset\n  source: \"OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM\"\n  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.\"\n","sources":["companion-breed-health — Domestic Shorthair — Androgen insensitivity syndrome (AIS) (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Domestic Shorthair — Androgen insensitivity syndrome (AIS) (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/2599922/","retrieved":"","ref":"PMID 2599922","doc_type":"official source","source_document":"","verification_file":""},"source_document":"","source_file":"","trust":{"authority_tier":"ungraded","fidelity":"verbatim","license":null,"display_grade":"pending"},"tokens_estimated":1508,"generated_at":null,"tip":"Use /api/v1/topics to discover more topics. /api/v1/nutrient for precise single-point queries. /api/v1/cross_compare for 2-3 standard comparisons."}