Sex-Related Disorders Flashcards Preview

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Flashcards in Sex-Related Disorders Deck (30)
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1

Androgen Insensitivity Syndrome (AIS)

46, XY

2

46, XY

Androgen Insensitivity Syndrome (AIS)

3

Androgen Insensitivity Syndrome (AIS) - Symptoms

Phenotypes range from mild under-virilization to full sex reversal

4

Phenotypes range from mild under-virilization to full sex reversal

Androgen Insensitivity Syndrome (AIS) - Symptoms

5

46, XX Ectopic presence of the SRY gene

individual results in a phenotypically normal male

6

46, XY Deletion or absence of SRY

sex reversal and a phenotypically normal female

7

46, XY mutation in WT1 gene

Denys-Drash & Frasier Syndrome

8

Denys-Drash & Frasier Syndrome

46, XY mutation in WT1 gene

9

Denys-Drash & Frasier Syndrome - Symptoms

sex reversal, chronic kidney disease

10

sex reversal, chronic kidney disease

Denys-Drash & Frasier Syndrome - Symptoms

11

5-Alpha Reductase Deficiency

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

12

undervirilized male with increased virilization at the time of puberty

5-Alpha Reductase Deficiency

13

Congenital Adrenal Hyperplasia

Ambiguous genitalia in 46, XX

14

Ambiguous genitalia in 46, XX

Congenital Adrenal Hyperplasia

15

Triple X syndrome

47 XXX

16

47 XXX

Triple X syndrome

17

tall, seizures, LD, delayed speech

Triple X syndrome - Symptoms

18

Triple X syndrome - Symptoms

tall, seizures, LD, delayed speech

19

Jacobs Syndrome

47 XYY

20

47 XYY

Jacobs Syndrome - Symptoms

21

Jacobs Syndrome - Symptoms

LD, behavioral issues, tall, developmental delays, autism

22

LD, behavioral issues, tall, developmental delays, autism

Jacobs Syndrome - Symptoms

23

Turner syndrome

45, X

24

45, X

Turner syndrome

25

Turner syndrome - Symptoms

short, webbed neck, broad chest

26

short, webbed neck, broad chest

Turner syndrome - Symptoms

27

Klinefelter syndrome

47, XXY

28

47, XXY

Klinefelter syndrome

29

Klinefelter syndrome - Symptoms

tall, hypogonadism, sterility, lang. impairment, gynecomastia

30

tall, hypogonadism, sterility, lang. impairment, gynecomastia

Klinefelter syndrome - Symptoms