46,XX intersex is a condition where a person has two X chromosomes (typically found in females) but develops male or ambiguous external genitalia. This is caused by exposure to excess male hormones in utero or other genetic factors.
Understanding 46,XX Intersex
- Chromosomes: Individuals with 46,XX intersex have the typical female chromosomal makeup of two X chromosomes.
- Genitalia: Despite the female chromosomes, their external genitalia can appear male, ranging from completely male to ambiguous (a mix of male and female characteristics). Internal reproductive organs may also be affected, sometimes including testes.
- Causes: The primary cause is often exposure to high levels of androgens (male hormones) during fetal development. This can result from various genetic or hormonal imbalances. Other genetic factors can also contribute.
- Examples: This condition encompasses several specific variations, including 46,XX testicular disorder of sex development (DSD) and 46,XX ovotesticular DSD (formerly known as true hermaphroditism). In 46,XX ovotesticular DSD, individuals possess both ovarian and testicular tissue.
The condition is classified as a difference of sex development (DSD), reflecting the variation from typical male or female development. It's crucial to understand that 46,XX intersex is one specific type of DSD, and other genetic and chromosomal variations can also lead to DSD. Some individuals with 46,XX intersex may identify as male, female, or intersex depending on their personal experiences and identities.
The provided references confirm that 46,XX intersex involves a discrepancy between chromosomal sex (XX) and phenotypic sex (male or ambiguous). This is a result of factors impacting prenatal hormonal exposure or underlying genetics, resulting in the development of male-appearing external genitalia despite the typical female chromosome pattern.
