46,XX testicular disorder of sex development (46,XX DSD) is a rare condition in which a person with two X chromosomes in each cell has male physical characteristics. It is caused by a genetic mutation that results in the body producing hormones normally associated with male development. People with 46,XX DSD may have male genitalia, but their internal reproductive organs are female. They may also have other physical characteristics that are not typically male or female. Treatment for 46,XX DSD typically involves hormone therapy and sometimes surgery.

The symptoms of 46,XX testicular disorder of sex development vary depending on the individual, but may include:

-Ambiguous genitalia at birth

-Underdeveloped testes

-Infertility

-Abnormal development of secondary sex characteristics

-Abnormal hormone levels

-Abnormal development of the uterus and fallopian tubes

-Abnormal development of the breasts

-Abnormal development of the external genitalia

-Abnormal development of the internal reproductive organs

-Abnormal development of the urinary tract

-Abnormal development of the skeletal system

-Abnormal development of the brain and nervous system

-Psychological and behavioral issues

The exact cause of 46,XX testicular disorder of sex development is unknown. However, it is believed to be caused by a combination of genetic and environmental factors. Possible causes include:

• Abnormalities in the SRY gene, which is responsible for male sex determination

• Abnormalities in the genes responsible for the production of testosterone

• Exposure to environmental toxins or hormones during fetal development

• Abnormalities in the structure of the testes or the hormones that regulate them

• Chromosomal abnormalities, such as an extra X chromosome or a missing Y chromosome

The treatment for 46,XX testicular disorder of sex development depends on the individual's specific needs. Generally, treatment may include hormone replacement therapy, gender-affirming surgery, psychological counseling, and/or educational support. Hormone replacement therapy may involve taking testosterone to help develop male characteristics, such as facial hair and a deeper voice. Gender-affirming surgery may involve the removal of the uterus and ovaries, and the construction of a penis and scrotum. Psychological counseling can help individuals cope with the physical and emotional changes associated with the disorder. Educational support can help individuals understand their condition and learn how to manage it.

1. Family history of 46,XX testicular disorder of sex development
2. Maternal exposure to certain medications or environmental toxins
3. Abnormalities in the SRY gene
4. Abnormalities in the SOX9 gene
5. Abnormalities in the DMRT1 gene
6. Abnormalities in the NR5A1 gene
7. Abnormalities in the WT1 gene
8. Abnormalities in the AR gene
9. Abnormalities in the DAX1 gene
10. Abnormalities in the SF1 gene
11. Abnormalities in the MAP3K1 gene
12. Abnormalities in the GATA4 gene
13. Abnormalities in the NR0B1 gene
14. Abnormalities in the HSD17B3 gene
15.

There is no cure for 46,XX testicular disorder of sex development, but there are medications that can help manage the symptoms. These medications include hormone replacement therapy, anti-androgens, and gonadotropin-releasing hormone agonists. Additionally, surgery may be recommended to remove the testes and create a more feminine appearance.