Androgen insensitivity refers to an inability of the body to respond properly to male sex hormones (androgens) produced during pregnancy. This occurs because of a change (mutation) in a gene involved in the production of the protein inside cells that receives the androgen hormone and instructs the cell in how to use it.

Causes

It is caused due to various genetic defects on the X-chromosome which causes the body to unable to respond to the hormones which are responsible for male appearance.

It has two main categoties

• Complete
• Incomplete.

In complete type there will be absence of development of penis and other male body parts. The child will have appearanc eof that of a girl. It occur sin about one in 20,000 live births.

In incomplete type the degree of ambiguity varies widely. This type of incomplete or partial variety of anrogen insenitivity is called Gilbert Dreyfus syndrome, Incomplete Testicular Feminization, Lubs Syndrome, Rosewater Syndrome, Reifenstein Syndrome.

Incomplete AIS is discovered during childhood because the person may have both male and female physical characteristics.

Diagnosis

• Blood tests for testosterone levels, lutenizing hormones and follicle stimulating hormone.
• Genetic testing or karyotyping.
• Ultrsound scan of pelvis.

Symptoms of partail testicular feminization

• Ambigious genitalia (malwe genotype).
• Amenorrhea.
• Cryptorchism.
• Follicle stimulating hormenes are icnreased.
• Gynecomastia
• Male infetility.
• Raised serumt estosterone levels.
• Raised serum lutenizing hormones.

Complications

• Testicular cancer.
• Infertility
• Complex psychosocial issues.

Treatment

• Estrogen replacement is given after puberty.
• Gender assignment.