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12 years ago
Candace is a normal-looking 15-year-old girl but has never had a menstrual period, though she has other signs of puberty such as breasts and pubic and axillary hair. During a pelvic exam her physician determines that she has no uterus. Blood tests reveal that she has elevated amounts of testosterone in her blood, similar to that expected in young adult males. Name two typical sources of testosterone. Given the lack of a uterus, what is the likely source of testosterone in this case? What may be wrong with her? (Hint: Consider general principles of hormone secretion and action.) Why is there no uterus? What genetic test may confirm this suspicion?
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12 years ago
The lack of a uterus suggests two possibilities. Two tests are required to distinguish between these two causes of primary amenorrhea, determining the karyotype (chromosome analysis) and measuring the testosterone levels.

The first possibility in a girl with breasts but without a uterus is that she is genetically female, 46XX, but had abnormal mullerian development of the reproductive organs. If this is the case, testosterone levels will be normal.

The second possibility is that she is genetically male, 46XY, but her androgen receptors are insensitive to the male hormones that would have caused her to develop male genitalia. This condition is called Complete Androgen Insensitivity Syndrome. Because she has the Y chromosome she will have high levels of testosterone when tested, she is simply insensitive to this hormone.
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12 years ago
Testosterone is produced by adrenal glands and testes. The presence of elevated testosterone combined with absence of a uterus suggests that she has testes rather than ovaries. The lack of masculinization indicates that her tissues do not respond to the testosterone that is present. There is no uterus because she is genetically male. This can be confirmed by examining her chromosomes.
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