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Reifenstein syndrome   

Overview | Symptoms | Treatment | Prevention

Alternative names:

Partial androgen insensitivity syndrome; Incomplete male pseudohermaphroditism

Definition:

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.

Causes and Risks

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.

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