Androgen insensitivity syndrome medical therapy

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Androgen insensitivity syndrome Microchapters


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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]


A multidisciplinary approach is recommended for clinical management from infancy up to adulthood. Hormone replacement therapy is needed following gonadectomy. Patients who have decided to retain their gonads are considered to be at risk for developing germ cell tumors and for these the sensitive circulating tumor markers may become available soon.

Medical Therapy

General management

Management of androgen insensitivity syndrome should address:[1]

  • Functional issues
  • Sexual issues
  • Psychological issues such as disclosure
  • Gonadectomy and subsequent hormone replacement
  • Creation of a functional vagina, and provision of genetic advice
  • Care needs to be individualized, flexible, and holistic
  • Management is dependent wholly on a multidisciplinary team

Specific management based on the type of AIS

Management of CAIS (complete androgen insensitivity syndrome)

Treatment of manifestations:

Management of PAIS (partial androgen insensitivity syndrome)

  • Treatment of PAIS is similar to treatment of CAIS in individuals with predominantly female genitalia, but in order to help avoid increasing clitoromegaly at the time of puberty. The pre-pubertal gonadectomy procedure is advised.
  • In individuals with PAIS and ambiguous or predominantly male genitalia, the tendency has been for parents and healthcare professionals to assign sex of rearing after an expert evaluation has been completed.
  • Individuals with PAIS and raised as males may undergo urologic surgery such as orchipexy and hypospadias repair. [1]
  • Individuals with PAIS and raised as females and who undergo gonadectomy after puberty may need combined estrogen and androgen replacement therapy.[1]

Management of MAIS (mild androgen insensitivity syndrome)

  • Males with MAIS may require mammoplasty for gynecomastia.
  • A trial of androgen pharmacotherapy may help improve virilization in infancy.
  • It is best if the diagnosis of AIS is explained to the affected individual and family in an empathic environment, with both professional and family support.

Psychosocial management

  • Psychosocial support plays a major role in a multidisciplinary approach in managing complete androgen insensitivity syndrome.
  • When the diagnosis is made, adolescents and parents of children with the disorder would have to make crucial decisions regarding treatments, timing and the extent of any surgical interventions. Major focus has to be laid on assimilation of the disparities between chromosomal, gonadal, and phenotypic sex and its implications. Specialist psychological support is provided in most centers caring for patients with disorders of sex development (DSD).[1]

Prevention of secondary manifestations


Evaluation of relatives at risk

A karyotype analysis can be done first In an apparently asymptomatic older or younger sibling who has normal external female genitalia and who has not yet undergone menarche. Molecular genetic testing for androgen receptor (AR) variant in the family would be advised next for the phenotypic females who have a 46,XY karyotype. Androgen binding assays should be considered if the androgen receptor (AR) variant in the family is undocumented.

Genetic counseling

  • Androgen receptor (AR) mutations are inherited and transmitted in an X linked manner.
  • In XY-offspring, 50% are affected and XX offspring 50% of them are a healthy carrier. [4]
  • Affected 46XY individuals are almost always infertile.
  • The risk of transmission is negligible in sporadic cases. [4]
  • In any case of de-novo mutation of the androgen receptor (AR) gene, germline mosaicism cannot be excluded and counseling the families has to be handled cautiously. [4]
  • The children of a female known to carry an androgen receptor (AR) pathogenic variant (heterozygote) are at a 25% risk for:
    • Getting affected and having 46XY karyotype
    • Getting affected and having 46XY karyotype
    • Would be a carrier and has a 46XX karyotype
    • Would not be a carrier and has a 46XX karyotype
  • If the pathogenic variant in the family is known, prenatal testing for pregnancies at increased risk and also carrier testing for at-risk relatives are possible .


  1. 1.0 1.1 1.2 1.3 1.4 Hughes IA, Davies JD, Bunch TI, Pasterski V, Mastroyannopoulou K, MacDougall J (2012). "Androgen insensitivity syndrome". Lancet. 380 (9851): 1419–28. doi:10.1016/S0140-6736(12)60071-3. PMID 22698698.
  2. 2.0 2.1 Hughes IA, Werner R, Bunch T, Hiort O (2012). "Androgen insensitivity syndrome". Semin Reprod Med. 30 (5): 432–42. doi:10.1055/s-0032-1324728. PMID 23044881.
  3. 3.0 3.1 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)
  4. 4.0 4.1 4.2 Akella RR (2017). "Mutational Analysis of Androgen Receptor Gene in Two Families with Androgen Insensitivity". Indian J Endocrinol Metab. 21 (4): 520–523. doi:10.4103/ijem.IJEM_345_16. PMC 5477437. PMID 28670533.

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