Domestic Shorthair — Congenital adrenal hypoplasia (CAH) (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_domestic_shorthair_congenital_adrenal_hypoplasia_cah_cat category: companion-breed-health title: "Domestic Shorthair — Congenital adrenal hypoplasia (CAH) (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_congenital_adrenal_hypoplasia_cah_3272.txt date_parsed: 2026-08-02 tokens_estimated: 345 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_domestic_shorthair_congenital_adrenal_hypoplasia_cah_cat/01_companion_breed_health_domestic_shorthair_congenital_adrenal_hypoplasia_cah_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 — Congenital adrenal hypoplasia (CAH) (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001661/9685/" 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 — Congenital adrenal hypoplasia (CAH) (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: Congenital adrenal hypoplasia (CAH)
• Mode of inheritance: Autosomal recessive
• Clin feat: Key clinical features reflect the deficiency of the enzyme (11β-hydroxylase) and consequential impaired biosynthesis of cortisol and changes to androgen levels (Owens et al., 2012; Stachowiak, 2022), including presence of indeterminant or secondary sex characteristics post desexing, including gynecomastia (enlarged breast tissue) concurrent with fully formed penis with barbs (Knighton, 2004; Owens et al., 2012); intermale aggression (Owens et al., 2012); unexplained hypertension and excess salt and water retention (Owens et al., 2012); polyuria and polydipsia (Knighton, 2004; Owens et al., 2012); foul-smelling and minimally concentrated urine (Owens et al., 2012); small body frame, thickened skin and greasy haircoat (Owens et al., 2012); decreased baseline and stimulated serum cortisol and aldosterone concentrations (Owens et al., 2012); increased baseline and stimulated progesterone and androstenedione concentrations (Owens et al., 2012) and increased serum urea nitrogen concentration, hypernatremia, hyperglobulinemia (Owens et al., 2012). IT thanks DVM student Angela Jeppesen, who provided the basis of this contribution in May 2023.
• Defect: yes

Associated gene(s)

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.

• Gene: Entrez Gene ID 389841199 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: Adopting the comparative candidate-gene strategy (based on the similarity of diagnostic signs of a single affected cat with the homologous human disorder), Owens et al. (2012) sequenced the feline <em>CYP11B1</em> gene (encoding 11β-hydroxylase) in that single affected cat and a healthy control cat, identifying the causal mutation as a G&gt;A missense SNP in exon 7 (omia.variant:117) "that results…

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.

• 2004. Congenital adrenal hyperplasia secondary to 11beta-hydroxylase deficiency in a domestic cat. J Am Vet Med Assoc — PubMed:PMID15323380 — OMIA Phene_Article / Article
• 2012. Congenital adrenal hyperplasia associated with mutation in an 11β-hydroxylase-like gene in a cat. J Vet Intern Med — PubMed:PMID22827537 | DOI:10.1111/j.1939-1676.2012.00971.x — OMIA Phene_Article / Article
• 2020. Genetic disorders of sex development in cats: An update. Anim Reprod Sci — PubMed:PMID32414464 | DOI:10.1016/j.anireprosci.2020.106353 — OMIA Phene_Article / Article
• 2022. Cytogenetic and molecular insight into the genetic background of disorders of sex development in seventeen cats. Sci Rep — PubMed:PMID36280698 | DOI:10.1038/s41598-022-21718-y — OMIA Phene_Article / Article
• 2024. Development and validation of animal variant classification guidelines to objectively evaluate genetic variant pathogenicity in domestic animals. Front Vet Sci — PubMed:PMID39703406 | DOI:10.3389/fvets.2024.1497817 — 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:202010 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:610613 (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."