Infertility Flashcards

1
Q

What is 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 primary infertility?

A

When you have not had a live birth previously

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3
Q

What is secondary infertility?

A

When there has been a live birth in the past 12 months

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4
Q

What are the impacts of infertility on couples?

A
Psychological:
no biological child
Impact on child wellbeing
Impact on larger family
Investigations
Treatment
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5
Q

What are the impacts of infertility on society?

A

Less births
Less tax income
Investigation
Treatment costs

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6
Q

What are pre testicular causes of infertility in males?

A

Congenital or acquired eg Klinefelter 47 XXY, Y chromosome deletion, HPG, Testosterone, Prolactin

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7
Q

What are testicular causes of infertility in males?

A
Congenital
Cryptorchidism
Infections (STDs)
Immunological (Antisperm Abs)
Vascular (Varicocoele)
Trauma/ Surgery
Toxins (Chemo/DXT/Drugs/Smoking)
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8
Q

What are post testicular causes of infertility in males?

A
Congenital (absence of vas deferens in CF)
Obstructive azoospermia
Erectile dysfunction (retrograde ejaculation, mechanical impairment, psychological)
Iatrogenic (vasectomy)
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9
Q

What is cryptorchidism? Where does it commonly happen in the body?

A

Undescended testes (90% in inguinal canal)

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10
Q

What are causes of infertility in females?

A
Ovarian causes (40%)- anovulation, corpus luteum insufficiency
Tubal causes (30%) - tubulopathy due to infection, trauma, endometriosis
Uterine causes (10%) -unfavourable endometrium due to chronic endometriosis, fibroid, adhesions (synechiae), congenital malformation
Cervical causes (5%) - ineffective sperm penetration due to chronic cervicitis or immunological (antisperm Abs)
Unexplained (10%)
Pelvic causes (5%)- endometriosis, adhesions
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11
Q

What is endometriosis? How many women does it affect?

A

Presence of functioning endometrial tissue outside the uterus
5% of women
(responds to oestrogen)

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12
Q

What are symptoms of endometriosis?

A

Menstrual pain
Menstrual irregularities
Deep dyspareunia
Infertility

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13
Q

How is endomertriosis treated?

A

Hormonal (e.g. continuous OCP, prog)
Laparoscopic ablation
Hysterectomy
Bilateral Salpingo-oophorectomy

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14
Q

What are fibroids in infertile women? How many women does it affect?

A

Benign tumours of the myometrium
Affects 1-20% of pre-menopausal women (increases w age)
Responds to oestrogen

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15
Q

What are symptoms of fibroids?

A
Usually asymptomatic
↑ Menstrual pain
Menstrual irregularities
Deep dyspareunia (painful ntercourse)
Infertility
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16
Q

How are fibroids treated?

A

Hormones (e.g. continuous OCP, prog, continuous GnRH agonists)
Hysterectomy

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17
Q

What are LH, FSH and testosterone levels in a male with hyperprolactinemia?

A

LH-low
FSH-low
Testosterone-low

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18
Q

What are LH, FSH and testosterone levels in a male with Klinefelters (primary testicular failure)?

A

LH- high
FSH-high
Testosterone-low

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19
Q

What male infertility problems arise due to hypothalamus problems?

A

Congenital hypogonadotropic hypogonadism (Kallmann syndrome- anosmic or normosmic)
Acquired hypogonadotropic hypogonadism (low BMI, excess exercise, stress)
Hyperprolactinaemia

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20
Q

What are Gnrh, LH, FSH, testosterone levels in infertile males when the problem is in the hypothalamus?

A

All low

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21
Q

What male infertility problems arise due to anterior pituitary problems?

A

Hypopituitarism: tumour, Infiltration, Apoplexy, Surgery, Radiation

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22
Q

What are LH, FSH, testosterone levels in infertile males when the problem is in the hypothalamus?

A

All low

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23
Q

What male infertility problems arise due to gonad problems?

A

Congenital primary hypogonadism (Klinefelters 47 XXY)

Acquired primary hypogonadism (cryptorchidism, trauma, chemo, radiation)

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24
Q

What are LH, FSH, testosterone levels in infertile males when the problem is in the testes?

A

LH/FSH high

Testosterone low

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25
Q

What is Kallmann’s syndrome?

A

Failure of migration of GnRH neurons with olfactory fibres (to the olfactory placode)

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26
Q

How will Kallmann’s syndrome present?

A
Cryptorchidism
Failure of puberty
-Lack of testicle development
-Micropenis
-Primary amenorrhoea
Infertility
Anosmia
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27
Q

What hormone blocks kisspeptin neurones? How does it do this?

A

Prolactin binds to prolactin receptors on kisspeptin neurons in hypothalamus

Inhibits kisspeptin release.

Decreases downstream GnRH/LH/FSH/T/Oest

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28
Q

How does hyperprolactinemia present?

A

Oligo (>35d menses) or amenorrhoea (3-6m no menses)/ Low libido (and other hypogonadal symptoms)/ Infertility/ Osteoporosis

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29
Q

What are the causes of hyperprolactinaemia?

A
Prolactinoma
Pituitary stalk compression
Pregnancy and breastfeeding
Medications (dopamine antagonists)
PCOS
Hypothyroidism
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30
Q

What happens to sex chromosomes in Klinefelter’s?

A

Extra X chromosome (47 XXY)

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31
Q

How does Klinefelter’s present?

A
Tall stature
Low facial and chest hair
Infertility (up to 3%)
Mildly impaired IQ
Breast development
Small penis and testes
Narrow shoulders
Wide hips
Low bone density
Female like pubes
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32
Q

What should you include when taking history for an infertile man?

A

Duration, previous children, pubertal milestones, associated symptoms (eg. T deficiency, PRL symptoms, CHH features), medical & surgical history, family history, social history, medications/drugs

33
Q

How should you examine an infertile man?

A

BMI, sexual characteristics, testicular volume, epididymal hardness, presence of vas deferens, other endocrine signs, syndromic features, anosmia

34
Q

How is male infertility investigated

A

Semen Analysis
Blood tests- LH, FSH, fasting testosterone, SHBG, albumin, iron, karyotyping
Microbiology- urine test, chlamydia swab
Imaging

35
Q

What is the WHO criteria for normal semen analysis?

A

Volume: 1.5ml
Sperm Conc. : 15 mil/ml
Total motility: 40%)

36
Q

What do we look for in a male infertility blood test?

A

LH, FSH, PRL

Morning Fasting Testosterone

Sex Hormone Binding Globulin (SHBG)

Albumin, Iron studies

Also Pituitary/Thyroid profile

Karyotyping

37
Q

What do we look for in a male infertility microbiology?

A

Urine test

Chlamydia swab

38
Q

What lifestyle changes are advised for infertile males?

A

Optimise BMI
Smoking cessation
Alcohol reduction/cessation

39
Q

What treatment is available for infertile males?

A

Dopamine agonist for hyperPRL

Gonadotrophin treatment for fertility (will also increase testosterone)

Testosterone
(for symptoms if no fertility required – as this requires gonadotrophins)

Surgery
(eg. Micro Testicular Sperm Extraction (micro TESE))

40
Q

Whats primary amenorrhea?

A

No period ever and >16 yrs old

41
Q

Whats secondary amenorrhea?

A

Irregular periods, start but stop for 3-6 months

42
Q

What would LH/FSH and oestradiol levels be in premature ovarian insufficiency?

A

LH-high
FSH-high
Oestradiol-low

43
Q

What are symptoms of premature ovarian insufficiency (POI)?

A

Same as menopause

44
Q

What are causes of POi

A

Autoimmune, genetic (fragile X or turner’s syndrome), cancer therapy (radio/chemo in past)

45
Q

What would LH/FSH and oestradiol levels be in anorexia nervosa induced amenorrhea?

A

LH-low
FSH-low
Oestradiol-low

46
Q

What are Gnrh, LH, FSH, oestradiol levels in infertile females when the problem arises due to the hypothalamus?

A

All low

47
Q

What are LH, FSH, oestradiol levels in infertile females when the problem arises due to the anterior pituitary?

A

All low

48
Q

What are LH, FSH, oestradiol levels in infertile females when the problem arises due to the ovary?

A

LH/FSH high

Oestradiol low

49
Q

What is the epidemiology of PCOS?

A

Most common cause of female infertility and most common female endocrine disorder
Affects 5-15% of women of reproductive age
Frequent family history

50
Q

How is PCOS diagnosed?

A

2/3 out of:
Oligo/anovulation- assessed by menstrual frequency:
<21d or >35d cycles
<8-9 cycles/y
>90d for any cycle
OR proven by lack of progesterone rise or US

Hyperandrogenism- acne, hirsutism, alopecia, high androgens (testosterone)

Polycystic ovaries:
≥20 follicles OR ≥10ml either ovary on TVUS (8 MHz)

51
Q

How is PCOS amenorrhea treated?

A

Oral contraceptive pill

Metformin

52
Q

How is PCOS increased insulin resistance treated?

A

Metformin

53
Q

How is PCOS hirsutism treated?

A

Creams/wax/laser, anti androgens

54
Q

How does turners present and in what gender?

A
Females:
Short
Low hairline
Webbed neck
Coarctation of aorta
Underdeveloped reproductive tract
Brown nevi
Short 4th metacarpal
Small finger nails
Wide spaced nipples
Poor breast development
Amenorrhea
55
Q

How should you take a history for an infertile female?

A

Duration, previous children, pubertal milestones, breastfeeding,
Menstrual History: oligomenorrhoea or 1/20 amenorrhoea, associated symptoms, medical & surgical history, family history, social history, medications/drugs

56
Q

How should you examine an infertile female?

A

BMI, sexual characteristics, hyperandrogenism signs, pelvic examination, other endocrine signs, syndromic features, anosmia

57
Q

What are the main investigations for infertile females?

A

Blood test
Pregnancy test
Microbiology
Imaging

58
Q

Describe the difference between Klinefelters, Kallmanns, Turner’s and fragile x syndrome

A

Klinefelter’s- congenital primary testicular failure, extra x chromosome
Kallmann’s- congenital hypogonadotrophic hypogonadism (due to problems in the pituitary)
Turner’s- congenital female condition where they are partially missing an x chromosome
Fragile X- congenital condition affecting x chromosome leading to developmental problems, intellectual disability etc

59
Q

What is the most common cause of infertility in a couple?

A

Female factor (30%)
Male and female factor (30%)
Male factor (30%)
Unknown (10%)

60
Q

How many couples are affected by infertility?

A

Affects 1 in 7 couples (14%)

But half will conceive in next 12 months (at 24 months ~7 couples)

61
Q

What percentage of infertile couples will seep help?

A

55%

Positive association with socioeconomic status

62
Q

What are other causes of male infertility outside of the HPG axis?

A

Androgen receptor deficiency (rare)

Hyper/Hypothyroidism (reduces bioavailable testosterone)

63
Q

What are GnRH, FSH, LH and T levels in Kallmann syndrome?

A

Low GnRH (not detectable)
Low FSH/LH
Low T

64
Q

How is hyperprolactinemia treated?

A

Dopamine agonist (cabergoline)
Surgery
DXT

65
Q

What imaging is done for male infertility?

A

Scrotal US/Doppler
(for varicocoele/obstruction, testicular volume)

MRI Pituitary
(if low LH/FSH or high PRL)

66
Q

What’s the first thing to check for if a female presents with infertility symptoms?

A

Check they are not pregnant or breastfeeding

67
Q

What is amenorrhea?

A
  • No periods for at least 3-6 months.

- or up to 3 periods per year.

68
Q

What is oligomenorrhea?

A
  • Irregular or Infrequent periods >35 day cycles

- or 4-9 cycles per year.

69
Q

How do we diagnose primary ovarian insufficiency?

A

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

70
Q

How is hirsuitism assessed?

A

Ferriman- Gallwey score

71
Q

How is alopecia assessed?

A

Ludwig score

72
Q

What should you not use to assess Polycystic ovaries?

A

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

73
Q

How is infertility in PCOS treated?

A

Clomiphene
Letrozole
IVF

74
Q

What is a risk with PCOS and how is it treated?

A

Increase endometrial cancer risk (2-6)

Treat with progesterone cause

75
Q

What blood tests are done for female infertility?

A

LH, FSH, PRL

Oestradiol, Androgens

Foll phase 17-OHP, Mid- Luteal Prog

Sex Hormone Binding Globulin (SHBG)

Albumin, Iron studies

Also Pituitary/Thyroid profile

Karyotyping

76
Q

What type of pregnancy test do we do for female infertility?

A

Urine or serum HCG

77
Q

What microbiology tests are done for female infertility?

A

Urine test

Chlamydia swab

78
Q

What imaging is done for female infertility?

A

US (transvaginal)

Hysterosalpingogram

MRI Pituitary
(if low LH/FSH or high PRL)