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Sex chromosomes
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SRY gene
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Sex determination Androgen insensitivity syndrome
Leads to ambiguous genitalia
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Sex chromosome abnormalities
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Klinefelter's syndrone
XXY male Infertile or reduced fertility Gynecomastia (breast development) Late development (mental and physical)
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Turner's syndrome X0 (“X-null”) female Infertility
Swollen hands and feet Wide, webbed neck Incomplete puberty No periods
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Congenital Adrenal Hypoplasia
XX females have prenatally high levels of male hormones resulting in varying degrees of external male genitalia
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Androgen insensitivity syndrome
XY chromosomes SRY gene produces testes Testes release testosterone, but the hormone has little or no effect Can be complete or incomplete
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Intersex Both CAH and incomplete AIS can lead to ambiguous genitalia
e.g. partial closing of the outer labia, an enlarged clitoris, and a short vagina
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Gender dysphoria A condition in which a person feels that there is a mismatch between their biological sex and their gender identity
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Body map A strip of cortex holds a complete (though distorted) body map If a body part is amputated it may be experienced as a “phantom limb” because the brain is not altered
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Phantom penis Experienced by 2/3 of men who lose theirs in an accident
Experienced by 1/3 of MTF transsexuals, following surgery Experieneced by 2/3 FTM transsexuals, from childhood
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