Ovotesticular DSD: Meaning, Anatomy, and Development

For example, a person may have:

• one ovotestis;
• two ovotestes;
• one ovary and one testis;
• an ovotestis together with an ovary or testis.

The person’s chromosomes, external genitals, internal reproductive organs, hormones, puberty, fertility, and gender identity can vary considerably.

• ovo-, relating to an egg or ovary;
• testicular, relating to a testis;
• DSD, meaning difference or disorder of sex development.

The abbreviation is usually written in capital letters:

• The child was diagnosed with ovotesticular DSD.
• OT-DSD can present in different ways.

The plural usually refers to people or cases rather than changing the abbreviation:

• Several cases of ovotesticular DSD were reviewed.

Ovotestis is singular, while ovotestes is plural:

• One gonad was an ovotestis.
• The examination identified two ovotestes.

Ovarian tissue may contain structures such as follicles, while testicular tissue may contain seminiferous tubules or other testicular cells. Microscopic tissue examination is commonly used to confirm that both tissue types are present.

An ovotestis may be:

• located in the abdomen;
• located in the groin;
• located in the scrotum or labial area;
• connected to reproductive structures that developed in different ways.

The amount and function of each tissue type vary.

These can include:

• 46,XX;
• 46,XY;
• combinations of XX and XY cells;
• other mosaic or chimeric patterns.

MedlinePlus notes that a person with ovotesticular DSD may have XX chromosomes, XY chromosomes, or both.

Chromosomes alone do not determine the person’s genital appearance, gonadal function, gender identity, or reproductive ability.

Mosaicism develops when cells within one fertilized embryo later divide into groups with different chromosome patterns.

Chimerism occurs when cells originating from more than one fertilized egg become part of the same individual.

Either process may contribute to the presence of ovarian and testicular tissue, although many cases do not have a clearly identified genetic cause.

Possible mechanisms may involve:

• differences in genes guiding gonadal development;
• changes involving genes associated with testicular development;
• mosaic or chimeric chromosome patterns;
• differences in how ovarian and testicular pathways develop before birth.

A review of ovotesticular DSD describes substantial genetic and physical variability, and many individuals do not receive one simple explanation for why the variation developed.

The condition is not caused by parenting, behavior, clothing, sexual activity, or anything the person did.

A person may be born with genitals that appear:

• typically female;
• typically male;
• intermediate or not easily categorized according to conventional male–female expectations.

Possible characteristics may include:

• an enlarged clitoris or small penis;
• hypospadias;
• partially fused labial or scrotal tissue;
• one or both gonads located outside the abdomen;
• differences in the location of the urethral opening.

Genital appearance does not reveal the complete internal anatomy or chromosome pattern.

A person may have some combination of:

• a uterus;
• fallopian tubes;
• a vaginal canal;
• structures derived from male reproductive ducts;
• an ovary;
• a testis;
• one or more ovotestes.

Different structures may be present on opposite sides of the body.

Medical imaging, hormone testing, surgery, and tissue examination may be used to understand the anatomy when clinically necessary.

• before birth through testing or imaging;
• at birth because of genital differences;
• during childhood;
• at puberty;
• during fertility assessment;
• during surgery for another reason;
• in adulthood.

Evaluation may include:

• physical examination;
• chromosome analysis;
• hormone testing;
• ultrasound or magnetic resonance imaging;
• genetic testing;
• laparoscopy;
• microscopic examination of gonadal tissue.

The presence of both ovarian and testicular tissue is the defining feature.

Possible developments include:

• breast growth;
• facial or body hair;
• voice changes;
• menstruation;
• increased muscle development;
• mixed secondary sex characteristics;
• delayed or incomplete puberty.

Some people produce enough hormones for spontaneous puberty, while others may need hormone-related medical support.

Puberty should be monitored according to the person’s health and goals rather than an assumption that all bodies must develop in one standard way.

Fertility potential varies greatly. Factors include:

• whether ovarian or testicular tissue produces functional reproductive cells;
• the presence and condition of internal reproductive organs;
• hormone function;
• reproductive-tract anatomy;
• previous surgery.

Pregnancy has been reported in some individuals with functioning ovarian tissue, while sperm production is less commonly functional. Fertility should be assessed individually rather than assumed from appearance or chromosome pattern.

Possible areas requiring attention include:

• hormone production;
• puberty;
• urinary function;
• menstrual flow;
• fertility;
• gonadal position;
• pain;
• risk of changes or tumors in gonadal tissue;
• emotional well-being.

The risk associated with gonadal tissue depends on chromosome pattern, tissue type, location, age, and other clinical factors. Decisions about monitoring or surgery should therefore be individualized rather than automatic.

Such procedures may permanently affect:

• sexual sensation;
• fertility;
• hormone production;
• urinary function;
• future surgical choices;
• the person’s ability to participate in decisions.

When there is no urgent medical need, irreversible treatment should be approached carefully. Healthcare should distinguish necessary treatment for health or function from surgery performed mainly to satisfy social expectations about genital appearance.

However, assigned gender does not guarantee future gender identity.

A person with ovotesticular DSD may identify as:

• a woman;
• a man;
• nonbinary;
• intersex as an identity;
• transgender;
• cisgender;
• another gender.

Gender identity should be respected even when it differs from the original assignment or earlier medical decisions.

However, intersex can function as:

• a biological umbrella term;
• a community term;
• a social or political identity;
• a personal identity.

Not every person with an ovotesticular variation uses the word for themselves.

Respectful language follows the person’s stated preference.

Other differences in sex development may involve:

• atypical hormone production;
• reduced hormone response;
• chromosome variations;
• gonadal development without both tissue types;
• genital differences caused by another biological pathway.

For example, having XXY chromosomes does not by itself mean that someone has ovotesticular DSD. Both ovarian and testicular tissue must be present for this diagnosis.

A person may experience:

• typical or altered genital sensation;
• pain or discomfort;
• concerns about body image;
• anxiety about disclosure;
• satisfaction and pleasure;
• different reproductive or contraceptive needs.

Partners should not assume what anatomy the person has or what sexual activities are possible or desired.

Consent and clear communication are essential, as they are in every intimate relationship.

Others should not:

• request genital photographs;
• demand an explanation of anatomy;
• reveal the diagnosis without permission;
• use outdated labels;
• treat the person as a medical curiosity;
• assume gender identity or sexual orientation;
• ask whether the person is “really” male or female.

The person is more than a diagnosis or combination of tissues.

Every person has visibly atypical genitals.
No. External appearance may be typically female, typically male, or intermediate.

The condition always causes infertility.
No. Fertility varies, and some people with functioning ovarian tissue have reproductive potential.

Chromosomes must be both XX and XY.
No. A person may have XX, XY, mosaic, chimeric, or another chromosome pattern.

Ovotesticular DSD determines gender identity.
No. Gonadal tissue and gender identity are different concepts.

Surgery is always required in infancy.
No. Treatment depends on actual health and functional needs, and nonurgent irreversible procedures require careful ethical consideration.

1. Ovotesticular DSD is defined by the presence of both ovarian and testicular tissue.
2. A person with ovotesticular DSD may have an ovotestis, an ovary, a testis, or a combination.
3. Does ovotesticular DSD always produce visibly atypical genitals?
4. Their ovotesticular DSD was identified during an examination in adulthood.
5. Chromosome patterns in ovotesticular DSD may include XX, XY, or more than one cell line.
6. Ovotesticular DSD does not determine gender identity or sexual orientation.
7. The healthcare team discussed hormone function and fertility without assuming a particular gender.
8. Understanding ovotesticular DSD helps readers discuss intersex anatomy accurately and respectfully.

It is connected to sexuality and reproductive health because the variation may affect puberty, hormone production, genital sensation, menstruation, fertility, sexual comfort, and intimate disclosure. These effects differ greatly between individuals.

Understanding ovotesticular DSD helps readers distinguish bodily sex characteristics from gender identity and sexual orientation while respecting privacy, bodily autonomy, informed decision-making, and each person’s preferred language.