Trait
True hermaphroditism
The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism.
Summary
- Also called
- Testicular and ovarian tissue present
- Body system
- Abnormality of the genitourinary system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to True hermaphroditism, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome Test21 genes linked to True hermaphroditism
Changes in these genes cause rare conditions in which True hermaphroditism is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| NR5A1nuclear receptor subfamily 5 group A member 1 | Very often (80–99%) | In 1 condition |
| SOX9SRY-box transcription factor 9 | Very often (80–99%) | In 2 conditions |
| SRYsex determining region Y | Very often (80–99%) | In 2 conditions |
| B9D1B9 domain containing 1 | Sometimes (5–29%) | In 1 condition |
| B9D2B9 domain containing 2 | Sometimes (5–29%) | In 1 condition |
| CC2D2Acoiled-coil and C2 domain containing 2A | Sometimes (5–29%) | In 1 condition |
| CEP290centrosomal protein 290 | Sometimes (5–29%) | In 1 condition |
| CSPP1centrosome and spindle pole associated protein 1 | Sometimes (5–29%) | In 1 condition |
| MKS1MKS transition zone complex subunit 1 | Sometimes (5–29%) | In 1 condition |
| RPGRIP1RPGR interacting protein 1 | Sometimes (5–29%) | In 1 condition |
| RPGRIP1LRPGRIP1 like | Sometimes (5–29%) | In 1 condition |
| TCTN1tectonic family member 1 | Sometimes (5–29%) | In 1 condition |
| TCTN2tectonic family member 2 | Sometimes (5–29%) | In 1 condition |
| TCTN3tectonic family member 3 | Sometimes (5–29%) | In 1 condition |
| TMEM107transmembrane protein 107 | Sometimes (5–29%) | In 1 condition |
| TMEM216transmembrane protein 216 | Sometimes (5–29%) | In 1 condition |
| TMEM231transmembrane protein 231 | Sometimes (5–29%) | In 1 condition |
| TMEM237transmembrane protein 237 | Sometimes (5–29%) | In 1 condition |
| TMEM67transmembrane protein 67 | Sometimes (5–29%) | In 1 condition |
| TXNDC15thioredoxin domain containing 15 | Sometimes (5–29%) | In 1 condition |
| WT1WT1 transcription factor | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks