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:

Overview

• Androgen insensitivity syndrome (AIS) results from androgen receptor dysfunction and is a common cause of disorder of sex development.
• The AIS phenotype largely depends on the degree of residual androgen receptor (AR) activity.

Medical Therapy

Complete Androgen Insensitivity Syndrome

Estrogen replacement

Once testes have been removed, estrogen needs to be taken in order to support pubertal development, bone development, and completion of growth. Among estrogen preparations available, transdermal patches are gaining in popularity. Since there is no uterus, progesterone is not considered necessary.

Osteoporosis

CAIS women appear to have a higher than average risk of thinning of the bones (osteoporosis) but possibly not with an associated tendency to increased fracture. The low bone density does not always relate to poor compliance with an HRT regimen or to the timing of gonadectomy. It has been speculated that the lack of androgen action might be a contributing factor since women with the partial form (PAIS) seem to fare better in this respect. More research is needed in this area.