Hermaphroditism: Causes, Diagnosis and Treatment

Currently termed a sexual development disorder TDS, it is defined by the presence in a single individual of both testicular and ovarian gonadal tissue.

In patients with TDS, the seminiferous tubules characterize testicular tissue and ovarian tissue due to follicles. When both types of tissue are present within the same gonad, it is known as ovotestis.

The percentage of occurrence of bilateral ovotestis is 20%, an ovotestis with an ovary or contralateral testicle has an event of 50%, and the presence of an ovary and testicle one against the other occurs 30% of the time.

The TDS or hermaphroditism is a rare condition, and it is in southern Africa, where the appearance of this intersexual condition has been observed more in individuals. In contrast, in the world, around 500 people have been reported.


True hermaphroditism is rare and has its origin in a genetic mechanism, usually caused by chimerism.

Possible explanations include translocation during paternal meiosis.

This is a simple binary decision, with only two options: the activity or the lack of action of the SRY gene (Sexual region of the Y).


Affected individuals have sex chromosomes that show male-female mosaicism (where an individual possesses male XY pairs and female XX chromosomes).

Very often, but not always, the chromosomal complement is 46, XX. There is also evidence of Y chromosome material in each of these individuals in one of the autosomes (any of the 22 pairs of chromosomes other than sex chromosomes).

Diagnosis of Hermaphroditism

The only way to obtain a definitive diagnosis of TDS is by confirming the gonadal tissue in which they are examined exhaustively and requires the coincidence of both testicular cords and ovarian follicles.

The phenotype of the genitals, both internal and external, is controlled by the hormonal state of the gonad and almost always reflects the asymmetric mixing of ovarian and testicular tissue within the gonads.

In all patients, regression of the incomplete Müllerian duct is observed, the uterus remains immature, and anomalies, such as the unicorn uterus (a single fallopian tube), are frequent findings.

In patients with female phenotypic characteristics, the organs and vagina are generally better developed, and approximately 50% of patients with female phenotypic characteristics menstruate.

Patients with a marked degree of masculinity may have some uterine remains, such as the presence of a prostatic utricle (prostatic vagina).

Individuals with male phenotypic characteristics tend to have bilateral palpable gonads or at least one descending gonad.

When we are in the presence of an undescended gonad, it may be an intra-abdominal ovary or an ovotestis, which may be located at any point of the testicular descent route.

Sex assignment and treatment

The most critical situation, which is presented with these characteristics, is the assignment of gender.

A decision of the sex for the upbringing must be based so much on the findings obtained in the medical examinations as on the possibility of developing suitable organs in the adult age.

Another important consideration, which must be kept in mind, is that true hermaphrodites have fertility potential.

Pregnancy is possible and normal babies have been delivered. The sex assignment and the subsequent treatment depend on the age at the diagnosis.

Many patients are referred to a specialist in the neonatal period.

The assignment of the male sex should be made taking into account in addition to the excellent size of the penis and the presence of enough testicular tissue that could descend to the scrotum at sexual maturity.

Testicular tissue protection should allow normal virilization at puberty.

The sexual upbringing of feminine nature would be conditioned to the presence of the uterus with the vagina, especially if it is possible to preserve sufficient ovarian tissue.

In some patients in whom the ovary portion of the gonad was preserved, they exhibited spontaneous puberty.

In these patients raised as women, partial gonadectomy limited to the testicular component should be performed in childhood through reconstructive surgery.

Once the lack of post-operative testosterone secretion was confirmed, the complete elimination would be carried out once the lack of post-operative testosterone secretion was assured.

In addition to the surgical interventions, in both cases, a substitute therapy with sex steroids is necessary for the period of adolescence, which will depend on the functional activity of the residual tissue.

The patient’s consent on hermaphroditism is increasingly important in decisions about sex assignment, so surgery should be delayed until adolescence or adulthood, when the individual can consider their gender and make informed decisions about the treatment by itself.