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Female genitalia with XY chromosome, fluid and salt retention, hypertension

User Keven Wang
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Final answer:

Sex chromosome abnormalities such as Androgen Insensitivity Syndrome (AIS) can result in female genitalia in an individual with XY chromosomes. AIS leads to externally female characteristics with internal male sex organs.

Step-by-step explanation:

The phenotypical presentation of female genitalia with XY chromosomes, including conditions like fluid and salt retention and hypertension, can be associated with a type of chromosomal intersex disorder, such as Androgen Insensitivity Syndrome (AIS). Individuals with AIS have the external sex characteristics of females but do not have a uterus and are incapable of menstruation or conception. They are usually raised as females and have female gender identities, even though they have male internal sex organs (testes) which are typically undescended. This condition occurs due to the body’s inability to respond to androgens, which are male sex hormones. The XY chromosome complement remains the same, but the body's response to it is altered.

Other sex chromosome abnormalities involve various anomalies such as Klinefelter syndrome (XXY) and Turner syndrome (XO). In Klinefelter syndrome, an extra X chromosome undergoes inactivation to form Barr bodies to compensate for the excess genetic material. Turner syndrome females typically present with short stature, webbed neck, and are often sterile.

User Narea
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