Androgen insensitivity syndrome natural history, complications and prognosis

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aravind Reddy Kothagadi M.B.B.S[2]

If left untreated, androgen insensitivity syndrome (AIS) may lead to cancers of the male breast, larynx, liver, testes and bladder. Common complications of AIS include Infertility, psychological and social issues, osteoporosis, and cancers. Prognosis is good after orchidectomy at the proper time. For incomplete AIS patients, it depends on the presence and severity of ambiguous genitalia.

• The symptoms of androgen insensitivity syndrome (AIS) usually develop in the fetal developmental stage and start with non-androgenic aspects of male development such as formation of testes, production of testosterone and anti-müllerian hormone (AMH) by the testes which prevents the uterus and upper vagina from forming, and prostate and other internal male genital ducts fail to form because of lack of testosterone action.
• Childhood growth is normal and the karyotypic incongruity remains unsuspected unless an inguinal lump is discovered to be a testis during surgical repair of an inguinal hernia, appendectomy, or other coincidental surgery.
• If left untreated, androgen insensitivity syndrome may lead to cancers of the male breast, larynx, liver, testes and bladder.

• Infertility
• Psychological and social issues
• Osteoporosis: Reduced Bone mineral density (BMD) at the hip and spine is observed in cases with CAIS (complete androgen insensitivity syndrome). No correlation has been observed between the age of gonadectomy and BMD, and also no drop in BMD has been observed in patients followed up after gonadectomy.^[1]
• Some cancers show somatic alterations in Androgen receptor (AR) gene. Such cancers may result in increasing the function rather than decreasing the function as seen in AIS. Some of these include: ^[2]
  • Prostate cancer
  • Male breast cancer
  • Laryngeal cancer
  • Liver cancer
  • Testicular cancer
  • Bladder cancer

In cases of CAIS the prognosis is usually good after orchidectomy done at the proper time. For incomplete androgen insensitivity syndrome patients, it depends on the presence and severity of ambiguous genitalia.

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