Androgen insensitivity syndrome natural history, complications and prognosis

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

Overview

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.

Natural History, Complications, and Prognosis

Natural History

  • 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.

Complications

Prognosis

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.

References

  1. King TFJ, Wat WZM, Creighton SM, Conway GS (2017). "Bone mineral density in complete androgen insensitivity syndrome and the timing of gonadectomy". Clin Endocrinol (Oxf). doi:10.1111/cen.13368. PMID 28493277.
  2. Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean L, Bird TD, Ledbetter N, Mefford HC, Smith R, Stephens K, Gottlieb B, Trifiro MA. PMID 20301602. Vancouver style error: initials (help); Missing or empty |title= (help)

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