Clinical Aspects

Question 1

Common female causes of infertility?

Answer 1

Pituitary hormones
Polycistic ovaries
Cervical (anti seaman antibodies)

Question 2

Male causes of infertility?

Answer 2

Endocrine
Sperm autoimmunity
Obstruction

Question 3

Initial tests?

Answer 3

FSH/LH in women

Seman analysis men

Question 4

Normal sperm count?

Answer 4

20x10^6/ml

Question 5

What is azoospermia?

Answer 5

No sperm

Question 6

What is oligospermia?

Answer 6

<5-10x 10^6/ml

Question 7

<50% of sperm have normal motility=

Answer 7

Asthenozoospermia

Question 8

<30% sperm have normal morphology?

Answer 8

Teratozoospermia

Question 9

What is ART? Name 3

Answer 9

Assisted reproductive techniques
In vitro fertilisation
Preimplantation genetic diagnosis
Sperm/egg donation

Question 10

Frequency of turner?

Answer 10

1 in 2500

Question 11

Why infertile with 45,X?

Answer 11

Need two X’s for normal ovary function

Question 12

Other features of turner?

Answer 12

Autoimmune disease
Renal abnormalities
Heart defects

Question 13

What is consequence of Xq deletions?

Answer 13

Involving criticisable region- ovarian failure

Question 14

Proximal Xq deletion?

Answer 14

Severe- primary amenhorrhea and failure to enter puberty

Question 15

Distal Xq deletion?

Answer 15

Menarche(periods begin but still)

POF

Question 16

What Xp deletion breakpoint results in primary amenhorrhea in 50%?

Answer 16

Xp11

Question 17

What critical X region contains the SHOX gene?

Answer 17

Xp22.33 (short stature)

Question 18

What critical region of X conveys thyroid autoimmunity?

Answer 18

Xp11.2-p11.4

Question 19

What critical X region contains the UBE gene that causes POF?

Answer 19

Xp11.2-p11.4

Question 20

What is the result of a Xp21 deletion?

Answer 20

Normal menarche, secondary amenhorrhea and infertility

Question 21

What is the frequency of Klinefelter syndrome?

Answer 21

1 in 800

Question 22

Other symptoms of Klinefelters?

Answer 22

Narrow shoulders, wide hips, low bone density. Low testosterone leading to high production of LH and FSH (to try and stimulate testosterone production)

Question 23

Critical region of Y?

Answer 23

AZF on Yq

Question 24

Effect of A ZFa deletion?

Answer 24

Complete absence of germ cells. (Sortoli cell only syndrome - cells which support sperm growth but don’t produce sperm)

Question 25

AZFb deletion?

Answer 25

Arrest of maturation at spermatocyte

Question 26

AZFc deletion?

Answer 26

Variable impact from scos to severe oligospermia with all germ cell types present

Question 27

What is the impact of the common Yq11.23 deletion?

Answer 27

Deletion contains the DAZ multigene family which is important for spermatocyte development.

Question 28

What is the effect of an isodicentric Y (mirror image of p)

Answer 28

Will be normal male as SRY present but lacking AZF so lack of spermatogenesis

Question 29

With a balanced X-auto some translocation which chromosome is selected?

Answer 29

Selection for inactivation of normal X- majority no phenotype

Question 30

What is the selection for unbalanced X-auto some translocation?

Answer 30

Selection for inactivation of X with translocation -spread to auto some section but milder than expected phenotype

Question 31

What is the phenotype of a male with X-autosome translocation

Answer 31

Infertile