Karyotype Abnormalities/Sexual Differentiation

Question 1

Karyotype of Turner’s Syndrome

Answer 1

45yo XO

Question 2

Karyotype of Swyers

Answer 2

46 XY

Question 3

Karyotype of 17 Hydroxalase Deficiency

Answer 3

46 XX or 46 XY

Question 4

Karyotype of 17-20 Desmolase Deficiency

Answer 4

46 XY

Question 5

Karyotype of androgen insensitivity syndrome

Answer 5

46 XY

Question 6

Karyotype of Mullerian Agenesis

Answer 6

46 XX

Question 7

Do they have breasts? Turners syndrome

Answer 7

No

Question 8

Do they have breasts? Swyers

Answer 8

No

Question 9

Do they have breasts? 17 Hydryoxylasse Deficiency

Answer 9

No

Question 10

Do they have breasts? 17-20 Desmolase Deficiency

Answer 10

No

Question 11

Do they have breasts? Androgen insensitivity syndrome

Answer 11

Yes

Question 12

Do they have breasts? Mullerian agenesis

Answer 12

Yes

Question 13

Do they have a uterus? Swyers

Answer 13

Yes

Question 14

Do they have a uterus? Turners

Answer 14

Yes

Question 15

Do they have a uterus? 17-Hydroxalase (XX karyotype)

Answer 15

Yes

Question 16

Do they have a uterus? 17-

Question 17

Do they have a uterus? 17-hydroxalase deficiency (XY karyotype)

Answer 17

No

Question 18

Do they have a uterus? 17-20 Desmolase deficiency

Answer 18

No

Question 19

Do they have a uterus? Androgen insensitivity syndrome

Answer 19

No

Question 20

Do they have a uterus? Mullerian agenesis

Answer 20

No

Question 21

Abnormal labs found in Turner’s

Answer 21

Increased FSH

Question 22

Abnormal labs found in Swyers

Answer 22

Increased FSH

Question 23

Abnormal labs found in 17 hydroxalase deficiency (XX and XY)

Answer 23

Increased FSH

Question 24

Abnormal labs found in 17-20 Desmolase deficiency

Answer 24

Increased FSH

Question 25

Abnormal labs found in Androgen insensitivity syndrome

Answer 25

Male testosterone levels

Question 26

Abnormal labs found in Mullerian agenesis

Answer 26

Not really abnormal, but female testosterone levels

Question 27

Is gondaectomy required? Turner’s syndrome

Answer 27

No

Question 28

Is gondaectomy required? Swyers

Answer 28

Yes

Question 29

Is gondaectomy required? 17 hydroxalase deficiency (XX)

Answer 29

No

Question 30

Is gondaectomy required? 17-hydroxalase deficiency (XY)

Answer 30

Yes

Question 31

Is gondaectomy required? 17-20 Desmolase deficiency

Answer 31

No, there are NO GONADS to remove

Question 32

Is gondaectomy required? Androgen insensitivity syndrome

Answer 32

Yes (after puberty)

Question 33

Is gondaectomy required? Mullerian agenesis

Answer 33

No

Question 34

Key word - “streak-gonads,” hyper-hypo

Answer 34

Turner’s syndrome

Question 35

Key word - deficiency of SRY gene, hyper-hypo

Answer 35

Swyers

Question 36

Key word - HTN

Answer 36

17-hydroxalase deficiency (XX and XY)

Question 37

Key word - autosomal recessive, female testosterone, rare

Answer 37

17-20 Desmolase deficiency

Question 38

Key word - androgen receptor defect

Answer 38

Androgen insensitivity syndrome

Question 39

Key word - MRKH, scoliosis, renal anomalies

Answer 39

Mullerian agenesis