An inherited disorder that causes underdevelopment of the male reproductive tract and sexual dysfunction in males . In severe cases, the genitals can even start to look female-like. It includes an inability to make sperm, undescended testicles (testicles do not descend into the scrotum), and development of breasts. See also testiclular feminization .
Alternative Names
Partial androgen insensitivity syndrome; Incomplete male pseudohermaphroditism
Causes, incidence, and risk factors
This disease is one of a spectrum of diseases that are due to loss of normal response to the male sex hormones, called androgens (of which testosterone is the best known). In this genetic disease, the affected gene codes for the androgen "receptor." This is the key protein inside cells that receives the androgen hormone and instructs the cell how to respond to androgen hormones. Mutations in the gene render the receptor (and therefore the cell) less responsive -- hence the alternative name Partial Androgen Insensitivity Syndrome. The disease is inherited in an x-linked recessive manner.
Treatment
Early and continuous testosterone treatment may improve the chance that a boy will grow up to be fertile.
Support groups
Androgen Insensitivity Support Group: 978-455-2012
Expectations (prognosis)
Androgens are most important during early development in the womb. One can live into adulthood and be healthy without androgens and with Reifenstein syndrome, with the exception of infertility. In severe cases, almost female-like external genitals poses problems for individuals whose chromosomes are those of males. In these extreme cases children have been raised as females, but most affected adults have been raised as males.
Complications
Infertility and failure to develop normal male gonads/genitals. Breast development in men can be a cosmetic concern.
Calling your health care provider
Call your health care provider if you, your son or a male family member have infertility or incomplete development of male external organs despite high blood testosterone. Genetic testing and counseling is recommended if there is a strong suspicion that this disease is present.
Prevention
There is no simple prevention for genetic diseases. Prenatal testing is available for known androgen receptor mutations. Testosterone treatment that is started early may prevent some infertility.