Disease overview

Sexual development is determined by a variety of factors. This disorder of sexual development leads to female external genitalia with male and female internal genitalia.

Gene name

HSD17B3

Inheritance

Complex

Signs and symptoms

Affected dogs may exhibit changes in external genitalia, such as clitoral hypertrophy. Abnormal sexual behaviors may be noted.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Ultrasound or other imaging can help diagnose the condition. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

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Citations

Krzeminska P, Nizanski W, Nowacka-Woszuk J, Switonski M. Analysis of testosterone pathway genes in dogs (78,XY; SRY-positive) with ambiguous external genitalia revealed a homozygous animal for 2-bp deletion causing premature stop codon in HSD17B3. Anim Genet. 2019 Dec;50(6):705-711. doi: 10.1111/age.12850. Epub 2019 Sep 2. PMID: 31476086.

Krzeminska P, Nowacka-Woszuk J, Switonski M. Copy number variation of the SRY gene showed an association with disorders of sex development in Yorkshire Terrier dogs. Anim Genet. 2022 Feb;53(1):152-155. doi: 10.1111/age.13147. Epub 2021 Oct 19. PMID: 34664728.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.