The historical term “true hermaphrodite” is an outdated descriptor for a complex biological variation. This condition is now medically referred to as Ovotesticular Disorder of Sex Development, or Ovotesticular DSD. It represents a specific variation where an individual possesses both testicular and ovarian tissue.
Modern Terminology for the Condition
Ovotesticular DSD is defined by the presence of both ovarian tissue and testicular tissue in the same individual. This co-existence of tissue is the defining feature, regardless of the individual’s external appearance or chromosomal makeup. The older term “hermaphrodite” is considered obsolete. The current nomenclature falls under the broader category of Differences of Sex Development (DSDs). This revised terminology focuses on the underlying biological characteristics and helps remove the stigma associated with historical labels. Ovotesticular DSD is a rare condition, representing a small percentage of all DSD cases.
The Biological Causes
The underlying mechanisms for Ovotesticular DSD are heterogeneous, involving various disruptions in the genetic pathways of gonadal formation. The most frequent chromosomal pattern observed is 46,XX, accounting for more than half of all reported cases. In these individuals, testicular tissue develops despite the absence of the Y chromosome, which normally carries the testis-determining SRY gene.
In a small fraction of 46,XX cases, the SRY gene has translocated onto another chromosome. However, the majority of 46,XX Ovotesticular DSD cases are SRY-negative, pointing to other genetic factors that promote testicular development or suppress ovarian development. The second most common cause is a mosaic or chimeric karyotype, such as 46,XX/46,XY, where the presence of both XX and XY cells leads to mixed gonadal development. The rarest cases are those with a 46,XY karyotype, resulting from defects in genes that govern testicular differentiation or function.
Physical Manifestations
The hallmark anatomical finding is the ovotestis, a single gonad containing both ovarian and testicular tissue components. This mixed gonad is the most commonly identified structure, though individuals may have a testis on one side and an ovary on the other, or bilateral ovotestes. The testicular portion is typically dysgenetic.
The location of these gonads is highly variable, potentially residing in the abdominal cavity, the inguinal canal, or the labioscrotal folds. The hormonal output dictates the development of the internal reproductive ducts. Individuals often exhibit derivatives of both Müllerian structures (like a uterus) and Wolffian structures (like the vas deferens), though these are often underdeveloped.
The external genitalia show a wide spectrum of presentation, almost universally displaying some degree of ambiguity. The appearance often tends toward masculinization, with common features including hypospadias and cryptorchidism (undescended gonads). If assigned female at birth, the condition may not be recognized until puberty, when signs of virilization or mixed breast development occur due to the hormonal environment.
Diagnosis and Medical Management
Diagnosis
Diagnosis typically begins at birth with the observation of atypical or ambiguous external genitalia, which prompts a clinical investigation. Initial diagnostic steps involve a physical examination to assess the external anatomy and palpate for any gonadal tissue. Subsequent laboratory testing includes karyotype analysis to determine the chromosomal configuration, such as 46,XX or 46,XX/46,XY mosaicism. Hormone level assessments, including testosterone and Anti-Müllerian Hormone (AMH), help determine the functional activity of the gonadal tissues present. Imaging studies, such as ultrasound or MRI, are used to locate internal structures and identify the position and size of the gonads. The definitive diagnosis of Ovotesticular DSD requires a gonadal biopsy and histological examination to confirm the co-existence of both ovarian and testicular tissue.
Medical Management
Medical management necessitates a coordinated, multidisciplinary approach involving pediatric endocrinologists, geneticists, surgeons, and mental health professionals. The primary goal is establishing a gender assignment, which is a complex decision made in consultation with the family. This decision is based on the potential for hormonal function, the configuration of the external genitalia, and the potential for future fertility. Surgical intervention, known as genitoplasty, is often performed to align the external genitalia with the assigned gender. A significant component of care is managing the gonadal tissue, which involves considering the risk of tumor development and the potential for spontaneous puberty.
Gonadal Tissue Management
Gonadectomy, or the removal of the dysgenetic gonadal tissue, particularly the testicular component, may be recommended to reduce the risk of germ cell tumors and prevent the production of unwanted hormones. If the ovarian tissue is functional and the individual is assigned female, it may be preserved to facilitate spontaneous puberty and potential fertility. Long-term care involves hormone replacement therapy if the remaining gonadal tissue is insufficient for pubertal development, alongside continuous psychological support.