Overview
46,XY ovotesticular difference of sex development (DSD), previously known as 46,XY true hermaphroditism, is a rare condition in which a person has a male chromosome pattern (46,XY) but develops both ovarian and testicular tissue in their body. This means the gonads (sex organs) contain a mix of egg-producing (ovarian) and sperm-producing (testicular) tissue, sometimes in the same gonad (called an ovotestis) or as separate ovary and testis on different sides. Because of this mixed gonadal tissue, the body may produce both male and female hormones, leading to differences in how the external and internal reproductive organs develop. Some individuals may have ambiguous genitalia at birth, meaning the external sex organs do not look clearly male or female. Others may have genitalia that appear mostly male or mostly female but with some atypical features. Internal structures such as a uterus, fallopian tubes, or male reproductive ducts may be partially or fully present. Puberty can bring unexpected changes, such as breast development in someone raised as male, or lack of expected development. Treatment is individualized and may include hormone therapy, surgical options to align the body with the person's gender identity, psychological support, and long-term monitoring of gonadal tissue for health risks. A team of specialists works together to support each person's physical and emotional well-being.
Key symptoms:
Ambiguous genitalia at birthOne gonad that contains both ovarian and testicular tissuePresence of both a testis and an ovary on different sidesUndescended testicle or inguinal hernia in infancyA uterus or partial uterus found on imagingBreast development during puberty in someone raised as maleIrregular or unexpected menstrual bleedingInfertility or reduced fertilityDifferences in genital appearance that become more noticeable at pubertySmall penis or enlarged clitorisOpening of the urethra in an unusual position (hypospadias)Hormonal imbalances during pubertyPsychological distress related to body differences or gender identity
Clinical phenotype terms (19)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
1 eventErin Rowell
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for 46,XY ovotesticular difference of sex development.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Specialists
View all specialists →No specialists are currently listed for 46,XY ovotesticular difference of sex development.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to 46,XY ovotesticular difference of sex development.
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Caregiver Resources
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Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What type of gonadal tissue does my child have, and what does that mean for their health?,Is there a risk of gonadal tumors, and how will we monitor for that?,What are the options for hormone therapy, and when should it start?,Should any surgery be considered now, or is it better to wait until my child can participate in the decision?,What genetic testing has been done, and should additional testing be considered?,Are there fertility preservation options we should discuss?,Can you refer us to a psychologist or support group experienced with differences of sex development?
Common questions about 46,XY ovotesticular difference of sex development
What is 46,XY ovotesticular difference of sex development?
46,XY ovotesticular difference of sex development (DSD), previously known as 46,XY true hermaphroditism, is a rare condition in which a person has a male chromosome pattern (46,XY) but develops both ovarian and testicular tissue in their body. This means the gonads (sex organs) contain a mix of egg-producing (ovarian) and sperm-producing (testicular) tissue, sometimes in the same gonad (called an ovotestis) or as separate ovary and testis on different sides. Because of this mixed gonadal tissue, the body may produce both male and female hormones, leading to differences in how the external and
At what age does 46,XY ovotesticular difference of sex development typically begin?
Typical onset of 46,XY ovotesticular difference of sex development is neonatal. Age of onset can vary across affected individuals.
Are there clinical trials for 46,XY ovotesticular difference of sex development?
Yes — 1 recruiting clinical trial is currently listed for 46,XY ovotesticular difference of sex development on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.