Androgen insensitivity syndrome medical therapy

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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

A multidisciplinary approach is recommended for clinical management from infancy through to adulthood. Hormone replacement therapy is needed following gonadectomy. Patients who choose to retain the gonads are at risk of developing germ cell tumors for which sensitive circulating tumor markers may soon become available.

Medical Therapy

General management

Management of androgen insensitivity syndrome should address:

• • 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 individualised, flexible, and holistic.
  • Management is dependent wholly on a multidisciplinary team.

Specific management based on the type of AIS

Management of CAIS

Treatment of manifestations:

• In order to prevent testicular malignancy, treatment of CAIS may include either removal of the testes after puberty when feminization is complete or prepubertal gonadectomy accompanied by estrogen replacement therapy.
• As the risk of malignancy is low, however, removal of gonads is increasingly controversial.
• Additional treatment for CAIS may include vaginal dilatation to avoid dyspareunia.

Management of PAIS

• Treatment of PAIS in individuals with predominantly female genitalia is similar to treatment of CAIS, but is more likely to include prepubertal gonadectomy to help avoid increasing clitoromegaly at the time of puberty.
• 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 who are raised as males may undergo urologic surgery such as orchiopexy and hypospadias repair.
• Individuals with PAIS who are raised as females and who undergo gonadectomy after puberty may need combined estrogen and androgen replacement therapy.

Management of MAIS

• 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.

Prevention of secondary manifestations

Regular weight-bearing exercises and supplemental calcium and vitamin D are recommended to optimize bone health; bisphosphonate therapy may be indicated for those with evidence of decreased bone mineral density and/or multiple fractures.

Surveillance

Periodic reevaluation for gynecomastia during puberty in individuals assigned a male sex; monitoring of bone mineral density through DEXA scanning in adults.

Evaluation of relatives at risk

In an apparently asymptomatic older or younger sibling who has normal external female genitalia and who has not yet undergone menarche, a karyotype can be done first. For those phenotypic females who have a 46,XY karyotype, molecular genetic testing for the known AR variant in the family can be pursued next. If the AR variant in the family is not known, androgen binding assays could be considered.