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Living with 46,XY ovotesticular disorder of sex development

A rare difference of sex development in which a person with XY chromosomes has both testicular and ovarian tissue.

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Understanding 46,XY ovotesticular disorder of sex development

46,XY ovotesticular disorder of sex development is a rare genetic condition in which a person with XY chromosomes has both male and female gonad tissue.

Some people have both kinds of gonads. More often, one or both gonads hold a mix of testicular and ovarian tissue (ovotestes). External genitalia are usually not clearly male or female, but can range from typically male to typically female. Undescended testes, hypospadias, infertility, and a higher chance of gonadal tumors are often seen. GARD lists onset as during pregnancy and as a newborn.

Signs & symptoms

Symptoms vary from person to person. GARD lists these among the most common:

  • Genitals that are not clearly male or female
  • Ovotestis (gonad with both tissue types)
  • Hypospadias (urethra opening below the tip of the penis)
  • Small penis (micropenis)
  • Gonadoblastoma (a type of gonadal tumor)
  • Differences in the urinary and genital tract (urogenital sinus)

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include genetic specialists, hormone specialists, maternal-fetal medicine specialists and urinary and male reproductive system specialists.

  3. Ask which tests can help

    Your care team will decide which exams and tests can confirm the diagnosis.

Care & treatment

Care team
Genetic specialists (geneticists); Hormone specialists (endocrinologists); Maternal-fetal medicine specialists (pregnancy-related); Urinary and male reproductive system specialists (urologists)
Expert care
Ask about multidisciplinary care centers for rare conditions
Treatment
GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
Research
Clinical trials and observational studies may be options. See the research section below.

General information, not medical advice. Your care team makes the decisions.

Everyday life

Living with a rare condition is easier with support.

  • Connect with rare disease patient organizations for support
  • Keep notes on symptoms, changes and questions for appointments
  • Ask about patient registries that help research
  • Look into financial aid and travel resources for care visits
Bring these questions to your next doctor visit
How often should the gonads be checked for tumors?
Which specialists, such as endocrinology and urology, should be on our team?
What should we know about fertility and hormones?

Quick facts

Symptoms usually startduring Pregnancy and as a Newborn

GARD says changes in genes (also called variants) cause this condition. It occurs in a person with typical male 46,XY chromosomes.

GeneticEndocrineUrinary and Reproductive

Also known as: 46,xy ovotesticular dsd

Patient organizations

Rare-disease groups that can help

Source: NIH GARD · 46,XY ovotesticular disorder of sex developmentGARD ID 21469 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

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Explore research for 46,XY ovotesticular disorder of sex development

Explore actively recruiting 46,XY ovotesticular disorder of sex development studies with HealthSpark.

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