From the Research
Hermaphroditism in humans is most accurately described as intersex conditions or disorders of sex development (DSDs), which can result from several genetic conditions, including 46,XX/46,XY chimerism or mosaicism, 46,XX ovotesticular DSD, 46,XY partial gonadal dysgenesis, and mutations in genes involved in sex determination like SRY, SOX9, NR5A1, and WNT4, as reported in a study published in 2001 1. The most common genetic finding associated with true hermaphroditism (now called ovotesticular DSD) is 46,XX/46,XY chimerism or mosaicism, where an individual has some cells with XX chromosomes and others with XY chromosomes.
- Other genetic conditions include:
- 46,XX ovotesticular DSD (caused by translocation of SRY gene material to an X chromosome)
- 46,XY partial gonadal dysgenesis
- Mutations in genes involved in sex determination like SRY, SOX9, NR5A1, and WNT4 These conditions lead to the development of both ovarian and testicular tissue in the same individual, as described in a study published in 2001 1. The presentation varies widely, with individuals showing a spectrum of internal and external genital development.
- Management is individualized and multidisciplinary, focusing on:
- Gender identity development
- Potential fertility preservation
- Addressing any functional or health concerns Early diagnosis through genetic testing and hormonal evaluation is important for appropriate care, though many interventions are now delayed until the individual can participate in decision-making, as discussed in a study published in 2007 2. It is essential to note that the term "hermaphroditism" is no longer preferred, and "disorders of sex development" (DSDs) is the more commonly used term, as mentioned in a study published in 2007 2. However, the most recent study provided, published in 2025 3, does not directly address the question of hermaphroditism, but rather focuses on the treatment of congenital adrenal hyperplasia, which is a different condition. Therefore, the recommendation is based on the highest quality study available that directly addresses the question, which is the study published in 2001 1.