First aid reproductive

Question 1

Kallman syndrome

Answer 1

failure to complete puberty

Question 2

how does Kallman syndrome cause anosmia

Answer 2

defective migration of neurons and subsequent failure of olfactory bulbs to develop

Question 3

klinefelter karyotype

Answer 3

47, XXY

think (extra X)

Question 4

clinical signs of klinefelter

Answer 4

testicular atrophy, eunuchoid body shape, tall, long extremities, gynecomastia, female hair distribution.

Question 5

karyotype of turner syndrome

Answer 5

Female = 45 XO, a form of hypogonadotropic hypogonadism

Question 6

gene involved in Turner syndrome

Answer 6

SHOX (SH for short stature and shox)

Question 7

46 XY DSD

Answer 7

androgen insensitivity syndrome

Question 8

androgen insensitivity syndrome

Answer 8

defect in androgen receptor resulting in normal female (46, XY DSD); female external genitalia with scant axillary and pubic hair, anti mullerian hormone from testes

Question 9

5 alpha reductase deficiency

Answer 9

inability to convert testosterone to DHT until puberty when the GnRH axis is activated and increased testosterone causes masculinization and growth of external genetalia

Question 10

inheritance pattern of 5 alpha reductase deficiency

Answer 10

autosomal recessives, sex limited to genetic males

Question 11

most primary cause of primary amennorhea

Answer 11

turner syndrome