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Rare Disease Makes People Look Like A Woman, With Male Genitals, University of Granada Reveals


2/7/2013 7:46:25 AM

University of Granada researchers have designed a guideline for physicians and patients on the Androgen Insensitivity Syndrome (AIS), a rare disease that makes the subject develop reverse sex, which occurs when a subject looks like a woman but has male genes. AIS has low prevalence (it only affects one in 2000 people), and it is characterized by the inability of tissues to respond to the action of male hormones. This prevents individuals with XY sex hormones (i.e. 46,XY) to develop male genitalia. This disorder is caused by a mutation in the gene that codifies the receptor of androgens, and diagnosis is confirmed by the identification of such mutation. This disease is transmitted y a recessive gene associated to gender i.e. it is transmitted by women but it is only developed by men.



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