Reifenstein syndrome
Alternate Names : Partial androgen insensitivity syndrome, Incomplete male pseudohermaphroditism
Definition
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.
Overview, Causes, & Risk Factors
As a male baby grows in the womb, male hormones (androgens) are made. This leads to the development of male sex organs. In this condition, there is a change in the gene that helps the body recognize and use male hormones properly. This leads to problems with the development of the male sex organs. At birth, the baby may have ambiguous genitals, which leads to confusion over the baby's sex.
The syndrome is passed down through families (inherited). Women are not affected but may carry the gene. Males who inherit the gene from their mothers will have the condition. There is a 50% chance that a male child of a mother with the gene will be affected. Every female child has a 50% chance of carrying the gene. Family history is important in determining risk factors. The syndrome is estimated to affect 1 in 99,000 people.
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