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Reifenstein syndrome
Definition:
Reifenstein syndrome is an inherited disorder that causes underdevelopment of the male reproductive tract and sexual dysfunction in males, which includes an inability to make sperm, undescended testicles (the testicles do not descend into the scrotum), and development of breasts. See also testicular feminization. Alternative Names:
Partial androgen insensitivity syndrome; Incomplete male pseudohermaphroditism Text Continues Below
Causes, incidence, and risk factors:
Reifenstein syndrome is one of a group of diseases in which the body is unable to respond appropriately to the male sex hormones (androgens), which include testosterone. In this genetic disease, the affected gene codes for the androgen receptor, which allows cells to respond to androgens. This particular mutation makes the cells less responsive to these hormones -- hence the alternative name, Partial Androgen Insensitivity Syndrome. During normal fetal development, male hormones (androgens) are made by the testes of male fetuses and as a result, male sexual organs develop. If the hormones cannot be processed normally as a result of a genetic mutation in the androgen receptor, probelems occur with the development of the male sex organs. At birth, this may result in confusion over the sex of the baby due to ambiguous genitalia. The disease is inherited in an X-linked recessive manner, which means that women are not affected but may carry the gene, and males who inherit the gene from their mothers will have the condition. There is a 1 in 2 (or 50%) chance that a male child of a carrier mother will be affected. Family history is important in determining risk factors.
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