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Flashcards in Clinical Aspects Deck (31):
1

Common female causes of infertility?

Pituitary hormones
Polycistic ovaries
Cervical (anti seaman antibodies)

2

Male causes of infertility?

Endocrine
Sperm autoimmunity
Obstruction

3

Initial tests?

FSH/LH in women
Seman analysis men

4

Normal sperm count?

20x10^6/ml

5

What is azoospermia?

No sperm

6

What is oligospermia?

<5-10x 10^6/ml

7

<50% of sperm have normal motility=

Asthenozoospermia

8

<30% sperm have normal morphology?

Teratozoospermia

9

What is ART? Name 3

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

10

Frequency of turner?

1 in 2500

11

Why infertile with 45,X?

Need two X's for normal ovary function

12

Other features of turner?

Autoimmune disease
Renal abnormalities
Heart defects

13

What is consequence of Xq deletions?

Involving criticisable region- ovarian failure

14

Proximal Xq deletion?

Severe- primary amenhorrhea and failure to enter puberty

15

Distal Xq deletion?

Menarche(periods begin but still)
POF

16

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

Xp11

17

What critical X region contains the SHOX gene?

Xp22.33 (short stature)

18

What critical region of X conveys thyroid autoimmunity?

Xp11.2-p11.4

19

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

Xp11.2-p11.4

20

What is the result of a Xp21 deletion?

Normal menarche, secondary amenhorrhea and infertility

21

What is the frequency of Klinefelter syndrome?

1 in 800

22

Other symptoms of Klinefelters?

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

23

Critical region of Y?

AZF on Yq

24

Effect of A ZFa deletion?

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

25

AZFb deletion?

Arrest of maturation at spermatocyte

26

AZFc deletion?

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

27

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

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

28

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

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

29

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

Selection for inactivation of normal X- majority no phenotype

30

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

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

31

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

Infertile