Undescended testes have a small chance of becoming cancerous later in life if they are not surgically removed.
- Chromosomal pattern XY is Male genetically but externally female
- Due to lack of androgen receptors (deletion on X chromosome).
- Active breast development (hepatic oestrogens).
- Absent or scanty axillary and pubic hair.
- Usually absent uterus with a very short vagina.
- The gonads are testes or undifferentiated
- Infertile and no periods
- AIS may affect other females in the family.
- Pelvic exam : blind vagina
- Male serum androgen levels.
- A buccal smear and an examination of the polymorphonuclear leucocytes to determine if chromatin positive (probably XX) or chromatin negative (probably XO or XY); in other cases, a full chromosome analysis may be needed to exclude mosaicism and AIS.
- LH, FSH, oestradiol and testosterone levels.
- Psychological support and advice. No treatment for fertility.
- Malignancy prevention: Removal of gonads after puberty: the gonads are testes that are often found inside the abdomen or inguinal canal. Since these testes have a 25% risk of becoming malignant (teratoma or dysgerminoma) they should be removed soon after puberty.
- Surgery: An artificial vagina may be constructed or dilators used to permit sexual intercourse.
- Hormonal: oestrogen should also be given to augment breast development and prevent osteoporosis.