Clinical Aspects Flashcards

(31 cards)

1
Q

Common female causes of infertility?

A

Pituitary hormones
Polycistic ovaries
Cervical (anti seaman antibodies)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Male causes of infertility?

A

Endocrine
Sperm autoimmunity
Obstruction

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Initial tests?

A

FSH/LH in women

Seman analysis men

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Normal sperm count?

A

20x10^6/ml

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What is azoospermia?

A

No sperm

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What is oligospermia?

A

<5-10x 10^6/ml

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

<50% of sperm have normal motility=

A

Asthenozoospermia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

<30% sperm have normal morphology?

A

Teratozoospermia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What is ART? Name 3

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Frequency of turner?

A

1 in 2500

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Why infertile with 45,X?

A

Need two X’s for normal ovary function

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Other features of turner?

A

Autoimmune disease
Renal abnormalities
Heart defects

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is consequence of Xq deletions?

A

Involving criticisable region- ovarian failure

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Proximal Xq deletion?

A

Severe- primary amenhorrhea and failure to enter puberty

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Distal Xq deletion?

A

Menarche(periods begin but still)

POF

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

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

17
Q

What critical X region contains the SHOX gene?

A

Xp22.33 (short stature)

18
Q

What critical region of X conveys thyroid autoimmunity?

19
Q

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

20
Q

What is the result of a Xp21 deletion?

A

Normal menarche, secondary amenhorrhea and infertility

21
Q

What is the frequency of Klinefelter syndrome?

22
Q

Other symptoms of Klinefelters?

A

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

23
Q

Critical region of Y?

24
Q

Effect of A ZFa deletion?

A

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