Clinical Scenarios - Reproduction 5

Question 1

Key learning objectives
* Understand variabilities that can exist in sexual differentiation
* Understand how hormonal regulation of the reproductive systems can be
used to develop contraceptives
* Have an overview of the major causes of infertility - Endometriosis

Question 2

What does PMDS stand for?

Answer 2

Persistent Mullerian duct syndrome

Question 3

See slide 21
Shows a 1.5 year old male with PMDS
1. What does this cause?
2. What is normal in size?

Answer 3

1. Both testis absent from scrotum since
   birth
2. Phallus normal in size

Question 4

What is the serum hormonal profile or someone with PMDS?

Answer 4

Testosterone, DHT and AMH levels normal

Question 5

MRI of PMDS shows what?

Answer 5

Testes intra-abdominal, behind urinary bladder
Rudimentary uterus, oviducts and 2 structures resembling ovaries

Question 6

Karyotype of PMDS?

Answer 6

46XY

Question 7

What is a Karyotype?

Answer 7

An individual’s complete set of chromosomes

Question 8

See slide 22 with diagrams
Treatment of PMDS involves?

Answer 8

Surgery to correct the position of the testes
Remove the uterus, fallopian tubes, or other female structures

Question 9

How rare is PMDS?

Answer 9

Very rare ~300 cases reported

Question 10

Is PMDS multi-factorial?

Answer 10

YES

Question 11

85% cases of PMDS involve variants in which genes?
85% cases involve what kind of inheritance?

Answer 11

Variants in either the AMH gene or AMHR2 gene
85% cases with autosomal recessive inheritance genetic

Question 12

15% of PMDS cases are?

Answer 12

Unknown what causes

Question 13

What is contraception?

Answer 13

Process of avoiding pregnancy while engaging in sexual intercourse

Question 14

4 Contraceptions mechanisms?

Answer 14

1. Blocking sperm transport to the ovum
2. Preventing ovulation
3. Blocking implantation
4. Blocking sperm production

Question 15

Female hormonal contraception explain how the progesterone - progestins works?

Answer 15

– Prevent ovulation and follicular development
– Negative feedback to prevent GnRH pulse frequency – Decrease FSH and LH
- Thicken cervix mucus – Inhibit sperm

Question 16

How does oestrogen contraception work

Answer 16

– Some negative feedback on AP – Reduced FSH
– Stability to endometrium (breakthrough bleeds)
– Increases potency of progesterone effects – Less progestin needed

Question 17

Oestrogen contraception uses what synthetic versions of the hormone?

Answer 17

Estradiol, ethinylestradiol and estetrol

Question 18

Emergency (female) contraception uses LNG
1. LNG stands for?
2. How much vs what for IUD day?
3. Prevents/delays/impairs what?

Answer 18

1. Levonorgestrel (LNG)
2. 1.5mg emergency vs 20ug/day IUD
3. Prevent/delay ovulation, impair CL function

Question 19

Emergency contraception (female) of Ulipristal acetate -
1. Inhibits/delays?
2. Reduces and delays?

Answer 19

Inhibit or delay ovulation
Reduce endometrial thickness, delay
endometrial maturation

Question 20

See diagram on slide 25
Male hormonal contraception
How does it work?

Answer 20

Suppress LH and FSH - reversible inhibition of
testicular function (spermatogenesis and testosterone production

Question 21

Male hormonal contraception
It results in a decrease of?

Answer 21

Results in decrease of Sertoli cell function for
germ-cell maturation.

Question 22

Male hormonal contraception
To maintain androgen-dependent physiological functions what must be part of this scheme?

Answer 22

To maintain androgendependent physiological
functions an androgen (usually testosterone)
must be part of the contraceptive regimen

Question 23

Male hormonal contraception - give an example?
How much of it?

Answer 23

E.g.: Nestorone-testosterone gel [sperm]< 1 x 106 /ml

Question 24

What does nestorone do?

Answer 24

Nestorone – Progestin – Suppress FSH and LH

Question 25

Testosterone for male contraception?

Answer 25

Some negative feedback but not efficient enough alone

Question 26

Synergy of progestin+testosterone causes?

Answer 26

Lower testosterone dose – Avoid side effects

Question 27

Synergy means?

Answer 27

Combined action/operation

Question 28

Infertility in males is due to? 2

Answer 28

• Disturbances of sperm maturation
• Sperm transport disorders

Question 29

Infertility in females can be due to? 5

Answer 29

• Disturbance of oocyte maturation (Hormonal imbalance)
• Partial or complete blockade of fallopian tubes
• Abnormalities of ovaries, fallopian tubes, or the uterus
• Antibodies against oocytes or sperm
• Endometriosis

Question 30

How much of population of female is estimated to have endometriosis?

Answer 30

2-10%

Question 31

Up to how much of those with endometriosis are infertile?

Answer 31

50%

Question 32

Theories for endometriosis?
see diagram slide 27

Answer 32

• Retrograde menstrual flux
• Genetic/anatomical/endocrine/environmental

Question 33

What happens with endometriosis?

Answer 33

Endometrium-like epithelium and/or stroma outside the endometrium and myometrium

Question 34

What is there a build up with endometriosis?

Answer 34

Build up outside uterus (not removed during menstruation) – Inflammation, scarring, cysts

Question 35

5 symptoms of endometriosis?

Answer 35

• Dysmenorrhea
• Bladder/bowel symptoms
• Chronic pelvic pain
• Fatigue
• Nausea

Question 36

See diagrams on slide 28
What 5 things happen in endometriosis to the body?

Answer 36

1. Chronic intraperitoneal inflammation
2. Disturbed folliculogenesis
3. Luteinized unruptured follicle
4. Progesterone resistance
5. Dysfunctional uterotubal motility