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:
Overview
If left untreated, androgen insensitivity syndrome may lead to cancers of the male breast, larynx, liver, testes and bladder. Common complications of androgen insensitivity syndrome 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 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
- Infertility
- Psychological and social issues
- Osteoporosis: Reduced Bone mineral density (BMD) at the spine and hip in subjects with CAIS. There has been no relationship found between age of gonadectomy and BMD, and also no drop in BMD in subjects followed up after gonadectomy. [1]
- Some cancers show somatic alterations in Androgen receptor (AR) gene. Such cancers may reslut in increasing the function rather than decreasing the function as seen in AIS. Cancers include the following : [2]
Prognosis
For patients with complete androgen insensitivity syndrome, prognosis is good after orchidectomy at the proper time. For incomplete androgen insensitivity syndrome patients, it depends on the presence and severity of ambiguous genitalia.
References
- ↑ 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.
- ↑ 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
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