Infertility Flashcards

1
Q

What is the definition of infertility?

A

A disease of the reproductive system defined by the failure to achieve a clinical pregnancy after ≥12 months of regular unprotected sexual intercourse

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2
Q

What is the defintion of regular intercourse?

A

Every 2-3 days

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3
Q

What is primary infertility?

A

when have not had a live birth previously (e.g miscarriage)

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4
Q

What is secondary infertility?

A

when have had a live birth >12 months previously

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5
Q

How many people are affected by infertility?

A

•Affects 1 in 7 couples (= 14% of couples)
But ~ half of these will then conceive in the next 12 months (ie at 24months ~ 7% of couples
•55% will seek help (UK data)
•Positive association with socioeconomic status

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6
Q

What is the psychological distress impact to the couple?

A
  1. No biological child
  2. Impact on couples wellbeing
  3. Impact on larger family
  4. Investigations
  5. Treatments (often fail)
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7
Q

What is the cost to society on the couple?

A
  1. Less births
  2. Less tax income
  3. Investigation costs
  4. Treatment costs
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8
Q

What are the pre-testicular causes of infertility in men?

A
  • Congenital + Acquired Endocrinopathies
    1. Klinefelters 47XXY
    2. Y chromosome deletion
    3. HPG, T, PRL
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9
Q

What are the testicular causes of infertility in men?

A
  1. (Congenital)
  2. Cryptorchidism
  3. Infection: STDs
  4. Immunological: Antisperm Antibodies
  5. Vascular: varicocoele
  6. Trauma/Surgery
  7. Toxins: Chemo/DXT/Drugs/Smoking
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10
Q

What are the post testicular causes of infertility?

A
  1. Congenital: Absence of vas deferens in CF
  2. Obstructive Azoospermia
  3. Erectile Dysfunction: Retrograde Ejaculation, Mechanical Impairment, Psychological
  4. Iatrogenic: Vasectomy
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11
Q

What are undescended testes?

A

90% in inguinal canal

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12
Q

What are infertility causes in women?

A
  1. Uterine causes (10%)
  2. Tubal Causes (30%)
  3. Ovarian Causes (40%)
  4. Ineffective sperm penetration
  5. Unexplained (10%)
  6. Pelvic causes (5%)
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13
Q

What are some uterine causes for infertility?

A
  • Unfavourable endometrium due:
    1. Chronic endometritis (TB)
    2. Fibroid
    3. Adhesions (Synechiae)
    4. Congenital malformation
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14
Q

What are some tubal causes of infertility?

A
  • Tubopathy due:
    1. Infection
    2. Endometriosis
    3. Trauma
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15
Q

What are some ovarian causes of infertility?

A
  1. Anovulation (Endo)

2. Corpus luteum insufficiency

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16
Q

When might there be ineffective sperm penetration and infertility?

A
  1. Chronic cervicitis

2. Immunological (antisperm Ab)

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17
Q

What pelvic causes can cause infertility?

A
  1. Endometriosis

2. Adhesions

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18
Q

What is endometriosis? What does it respond to?

A
  1. Presence of functioning endometrial tissue outside the uterus
  2. 5% of women
  3. Responds to oestrogen therefore symptoms
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19
Q

What are the symptoms of endometriosis?

A
  1. ↑ Menstrual pain
  2. Menstrual irregularities
  3. Deep dyspareunia
  4. Infertility
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20
Q

What are the treatments of endometriosis?

A
  1. Hormonal (eg continuous OCP, prog)
  2. Laparascopic ablation
  3. Hysterectomy
  4. Bilateral Salpingo-oophorectomy
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21
Q

What are fibroids?

A
  1. Benign tumours of the myometrium
  2. 1-20% of pre-menopausal women (increases w age)
  3. Respond to oestrogen so symptoms
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22
Q

What are the symptoms of fibroids?

A
  1. Usually asymptomatic
  2. ↑ Menstrual pain
  3. Menstrual irregularities
  4. Deep dyspareunia
  5. Infertility
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23
Q

What are the treatments of fibroids?

A
  1. Hormonal (eg continuous OCP, prog, continuous GnRH agonists)
  2. Hysterectomy
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24
Q

What are the reproductive features of Kallmann syndrome?

A
  1. Cryptorchidism
  2. Failure of puberty
    - Lack of testicle dvlpt
    - Micropenis
    - Primary amenorrhoea
  3. Infertility
  4. Anosmia
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25
Q

What are the symptoms of Kallmann syndrome?

A
  1. Olfactory placode (primitive nose)

2. Failure of migration of GnRH neurons with olfactory fibres (to hypothalamus)

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26
Q

What are the levels like in Kallmann syndrome?

A
  1. Low GnRH (not measurable)
  2. Low LH and low FSH
  3. Low testosterone
    (hypogonadotrophic and hypogondasim)
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27
Q

What happens in hyperprolactinaemia?

A
  1. Prolactin binds to prolactin receptors on kisspeptin neurons in hypothalamus
  2. Inhibits kisspeptin release
  3. Decreases downstream GnRH/LH/FSH/T/Oest
  4. Oligo (>35d menses) or amenorrhoea (3-6m no menses)/Low libido (and other hypogonadal symptoms)/infertility/osteoporosis
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28
Q

What is the treatment of hyperprolactinaemia?

A
  1. Dopamine agonist (Cabergoline)

2. Surgery/DXT

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29
Q

What are the causes of hyperprolactinaemia?

A
  1. Prolactinoma (micro/macro)
  2. Pituitary stalk compression
  3. Pregnancy and Breastfeeding
  4. Medications (Dop antagonists eg anti-emetics and antipsychotics) (Oestrogens eg OCP)
  5. PCOS
  6. Hypothyroidism
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30
Q

What are sex chromosome disorder with infertility for men?

A
  • XXY klinefelter syndrome 1-2/1000 births

- XYY syndrome

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31
Q

What are sex chromosome disorder with infertility for women?

A
  • XXX triple X syndrome
  • X0 Turner syndrome
  • Fragile X syndrome
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32
Q

What are the symptoms of klinefelter syndrome?

A
  1. Tall sature
  2. Decreased facial hair
  3. Breast development
  4. Female type pubic pattern
  5. Small penis and testes
  6. Infertility (accounts for up to 3% of cases)
  7. Mildly impaired iQ
  8. Narrow shoulders
  9. Reduced chest hair
  10. Wide hips
  11. Low bone density
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33
Q

What are the levels like in Klinefelter syndrome?

A
  1. High LH and FSH (hypergonadotrophic)

2. Low T (hypogonadism)

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34
Q

What do you check for in the history for male infertility?

A
  1. including duration
  2. previous children
  3. pubertal milestones
  4. associated symptoms (eg. T deficiency, PRL symptoms, CHH features)
  5. medical and surgical history
  6. family history
  7. social history
  8. medications/drugs
35
Q

What examination do you do for male infertility?

A
  1. BMI
  2. sexual characteristics
  3. testicular volume
  4. epididymal hardness
  5. presence of vas deferens
  6. other endocrine signs
  7. syndromic features
  8. anosmia
36
Q

What blood tests do you order for male infertility?

A
  1. LH, FSH, PRL
  2. Morning Fasting Testosterone
  3. Sex Hormone Binding Globulin (SHBG)
  4. Albumin, Iron studies
  5. Also Pituitary/Thyroid profile
  6. Karyotyping
37
Q

What microbiology do you order for male infertility?

A
  1. Urine test

2. Chlamydia swab

38
Q

What imaging do you do for male infertility?

A
  1. Scrotal US/Doppler
    (for varicocoele/obstruction, testicular volume)
  2. MRI Pituitary
    (if low LH/FSH or high PRL)
39
Q

What lifestyle is good to avoid male infertility?

A
  1. Optimise BMI
  2. Smoking cessation
  3. Alcohol reduction/cessation
40
Q

What could be specific treatment for male infertility?

A
  1. Dopamine agonist for hyperPRL
  2. Gonadotrophin treatment for fertility (will also increase testosterone)
  3. Testosterone
    (for symptoms if no fertility required – as this requires gonadotrophins)
  4. Surgery
    (eg. Micro Testicular Sperm Extraction (micro TESE))
41
Q

What is the menstraul cycle?

A
  • 28-day cycle (24-35 days)

- ±2 days each month

42
Q

What is primary amenorrhoea?

A

Later than 16yrs is regarded as abnormal

43
Q

What is secondary amenorrhoea?

A
  1. Common for Periods to be irregular / anovulatory for first 18months.
  2. Periods start but then stop for at at least 3-6 months
44
Q

What is Amenorrhoea?

A

No periods for at least 3-6 months -or up to 3 periods per year.

45
Q

What is olgiomenorrhoea?

A

Irregular or Infrequent periods >35day cycles - or 4-9 cycles per year

46
Q

What are the symptoms of premature ovarian insufficiency (POI)?

A

Same Symptoms as per Menopause

47
Q

Can conception happen with POI?

A

In 20%

48
Q

What is the diagnosis of POI?

A

High FSH >25 iU/L (x2 at least 4wks apart)

49
Q

What are the causes of POI?

A
  1. Autoimmune
  2. Genetic eg Fragile X Syndrome / Turner’s Syndrome
  3. Cancer therapy Radio- / Chemo-therapy in the past
50
Q

Why is POS so important?

A
  1. Affects 5-15% of women of reproductive age, frequent family history
  2. Most common endocrine disorder in women
  3. Most common cause of infertility
51
Q

What do you need to be diagnosed with POS?

A

Rotterdamn PCOS diagnostic criteria (2 out of 2)

52
Q

What are the oligo/anovulation criteria?

A

-Normally assessed by menstrual frequency as oligomenorrhoea:
<21d or >35d cycles
<8-9 cycles/y
>90d for any cycle
-If necessary anovulation can be proven by:
Lack of progesterone rise or US

53
Q

What are the Clinical +/- Biochemical Hyperandrogenism criteria?

A

-CLINICAL;
Acne, hirsutism (Ferriman-Gallwey score), alopecia (Ludwig score)
-BIOCHEMICAL;
Raised androgens (eg Testosterone)

54
Q

What are the polycystic ovaries criteria?

A
  • ≥20 follicles OR ≥10ml either ovary on TVUS (8 MHz)

- Do not use US until 8y post-menarche (due to high incidence of multi-follicular ovaries at this stage)

55
Q

What is the treatment for POS for irregular menses/amenorrhoea?

A
  • Oral contraceptive pill

- Metoformin

56
Q

What is the treatment for POS for infertility?

A
  1. Clomiphene
  2. Letrozole
  3. IVF
57
Q

What is the treatment for POS for insulin resistance/impaired glucose homeostasis (T2DM, gestational DM)?

A
  • Diet and lifestyle

- Metformin

58
Q

What is the treatment for hirsutism in POS?

A
  • Anti-androgen (e.g. spironolactone)

- Creams, waxing laser

59
Q

How do you treat the increase endometrial cancer risk (2-6) in POS?

A

Progesterone courses

60
Q

What are the symptoms of Turners syndrome (45X0) ?

A
  1. Short stature
  2. Low hairline
  3. Shield chest
  4. Wide-Spaced nipples
  5. Short 4th metacarpal
  6. Brown nevi
  7. Small fingernails
  8. Amenorrhoea
  9. Undeveloped reproductive tract
  10. Elbow deformity
  11. Poor breast development
  12. Coarctation of aorta
  13. Webbed neck
  14. Characteristic facies
61
Q

What history do you take for female infertility?

A
  1. including duration
  2. previous children
  3. pubertal milestones
  4. breastfeeding?
  5. Menstrual History: oligomenorrhoea or 1/20 amenorrhoea
  6. associated symptoms (eg. E deficiency, PRL symptoms, CHH features)
  7. medical & surgical history
  8. family history
  9. social history, medications/drug
62
Q

What examination do you do for female infertility?

A
  1. including BMI
  2. sexual characteristics
  3. hyperandrogenism signs
  4. pelvic examination
  5. other endocrine signs
  6. syndromic features
  7. anosmia
63
Q

What blood tests do you do for female infertility?

A
  1. LH, FSH, PRL
  2. Oestradiol, Androgens
  3. Foll phase 17-OHP, Mid- Luteal Prog
  4. Sex Hormone Binding Globulin (SHBG)
  5. Albumin, Iron studies
  6. Also Pituitary/Thyroid profile
  7. Karyotyping
    - Pregnancy (urine of serum HCG)
64
Q

What microbiology tests do you do in female infertility?

A
  • Urine test

- Chlamydia swab

65
Q

What imaging do you do for female infertility?

A
  1. US (transvaginal)
  2. Hysterosalpingogram
  3. MRI Pituitary
    (if low LH/FSH or high PRL)
66
Q

What are the levels like in primary testicular failure?

A

LH/FSH up, T down

67
Q

What happens if there is a problem in the hypothalamus for endocrine male infertility?

A
  1. Low GNRH
  2. Low LH/FSH/T
  3. Hypogonadtrophic
  4. Hypogonadism
68
Q

What is an example of congenital hypogonadotrophic hypogonadism for male/female infertility at hypothalamus leve?

A

Anosmic (can’t smell) (Kallman Syndrome) or Normosmic

69
Q

What is an example of acquired hypogonadotrophic hypogonadism for male/female infertility at hypothalamus level?

A
  • Low BMI
  • Excess exercise
  • Stress
70
Q

What other condition is hypogonadotrophic hypogonadism for male/female infertility at hypothalamus level??

A

Hyperprolactinaemia (as prolactin will act with kisspeptin and shut down axis)

71
Q

What are hypopituitary causes of endocrine male/female infertility?

A
  • Tumour
  • Infiltration
  • Apoplexy
  • Surgery
  • Radiation
72
Q

What will the levels be in hypopituitary causes of endocrine male/female infertility?

A

Low LH/FSH/T or E2

73
Q

What is congenital primary hypogonadism that leafs to endocrine male infertility?

A

Klinefelters (47XXY)

74
Q

What is congenital primary hypogonadism that leads to endocrine male infertility?

A
  • Cryptorchidism
  • Trauma
  • Chemo
  • Radiation
75
Q

What are the levels like in primary hypogonadism?

A
  • High LH/FSH
  • Low T/E2 (depending on sex)
  • Hypergonadotrophic hypogonadism
76
Q

What are some other causes for endocrine male infertility?

A
  1. Androgen receptor deficiency (rare)

2. Hyper/hypothyroidism (reduced bioavailable testosterone) - same in women just oestridol not tetsosterpme

77
Q

What should the results be for a semen analysis?

A
  • volume: 1.5ml
  • Sperm conc: 15million/ml
  • Total motility: 40%
78
Q

What levels do you see in premature ovarian insufficency?

A
  • LH, FSH up

- Oestradiol down

79
Q

What could cause female infertility acquired primary hypogonadism at gonad?

A
  • POI

- Surgery, trauma, chemo radiation

80
Q

What could cause female infertility congenital primary hypogonadism at gonad?

A
  • Turners

- POI

81
Q

What other condition could cause female infertility at gonad?

A

PCOS

82
Q

What are levels like in PCOS?

A
  1. Decreased LH:FSH

2. Normal or decreased E2

83
Q

What is the worst metabolic risk for POS?

A

Oligo/anovulation and clinical/biochemical hyperandrogism

84
Q

What are the levels like in turners?

A

High LH/FSH and low T