Sex-Related Disorders Flashcards

1
Q

Androgen Insensitivity Syndrome (AIS)

A

46, XY

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2
Q

46, XY

A

Androgen Insensitivity Syndrome (AIS)

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3
Q

Androgen Insensitivity Syndrome (AIS) - Symptoms

A

Phenotypes range from mild under-virilization to full sex reversal

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4
Q

Phenotypes range from mild under-virilization to full sex reversal

A

Androgen Insensitivity Syndrome (AIS) - Symptoms

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5
Q

46, XX Ectopic presence of the SRY gene

A

individual results in a phenotypically normal male

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6
Q

46, XY Deletion or absence of SRY

A

sex reversal and a phenotypically normal female

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7
Q

46, XY mutation in WT1 gene

A

Denys-Drash & Frasier Syndrome

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8
Q

Denys-Drash & Frasier Syndrome

A

46, XY mutation in WT1 gene

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9
Q

Denys-Drash & Frasier Syndrome - Symptoms

A

sex reversal, chronic kidney disease

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10
Q

sex reversal, chronic kidney disease

A

Denys-Drash & Frasier Syndrome - Symptoms

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11
Q

5-Alpha Reductase Deficiency

A

46, XY, undervirilized male with increased virilization at the time of puberty

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12
Q

undervirilized male with increased virilization at the time of puberty

A

5-Alpha Reductase Deficiency

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13
Q

Congenital Adrenal Hyperplasia

A

Ambiguous genitalia in 46, XX

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14
Q

Ambiguous genitalia in 46, XX

A

Congenital Adrenal Hyperplasia

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15
Q

Triple X syndrome

A

47 XXX

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16
Q

47 XXX

A

Triple X syndrome

17
Q

tall, seizures, LD, delayed speech

A

Triple X syndrome - Symptoms

18
Q

Triple X syndrome - Symptoms

A

tall, seizures, LD, delayed speech

19
Q

Jacobs Syndrome

A

47 XYY

20
Q

47 XYY

A

Jacobs Syndrome - Symptoms

21
Q

Jacobs Syndrome - Symptoms

A

LD, behavioral issues, tall, developmental delays, autism

22
Q

LD, behavioral issues, tall, developmental delays, autism

A

Jacobs Syndrome - Symptoms

23
Q

Turner syndrome

A

45, X

24
Q

45, X

A

Turner syndrome

25
Q

Turner syndrome - Symptoms

A

short, webbed neck, broad chest

26
Q

short, webbed neck, broad chest

A

Turner syndrome - Symptoms

27
Q

Klinefelter syndrome

A

47, XXY

28
Q

47, XXY

A

Klinefelter syndrome

29
Q

Klinefelter syndrome - Symptoms

A

tall, hypogonadism, sterility, lang. impairment, gynecomastia

30
Q

tall, hypogonadism, sterility, lang. impairment, gynecomastia

A

Klinefelter syndrome - Symptoms