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1B 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 counts as regular intercourse?

A

Every 2-3 days

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3
Q

What are the 2 types of infertility?

A
  • Primary infertility- when a couple have not had a live birth previously
  • Secondary infertility- when a couple have had a live birth >12 months previously
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4
Q

What are the 4 most common causes of infertility in a couple?

A

1) Male factor- 30%

2) Female factor- 30%

3) Combined male and female factor- 30%

4) Unknown factor- 10%

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5
Q

What is the impact of infertility on the couple?

A
  • Psychological distress
  • No biological child
  • Impact on couple’s wellbeing
  • Impact on larger family
  • Investigations
  • Treatments (often fail)
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6
Q

What is the impact of infertility on society?

A
  • Less births
  • Less tax income
  • Investigation costs
  • Treatment costs
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7
Q

What pre-testicular causes of infertility are there?

A

Congenital & acquired endocrinopathies:

  • Klinefelters 47XXY
  • Y chromosome deletion
  • HPG axis issues, testosterone and prolactin issues
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8
Q

What testicular causes of infertility are there?

A
  • Congenital
  • Infection (STDs)
  • Immunological (antisperm antibodies)
  • Vascular (varicocoele)
  • Trauma/surgery
  • Toxins (chemo/DXT/drugs/smoking)
  • Cryptorchidism
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9
Q

What is cryptorchidism?

A
  • Normal pathway of testes development during embryo development is through inguinal canal from abdomen
  • In cryptorchidism the testes don’t descend (90% are stuck in inguinal canal)
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10
Q

What post-testicular (after sperm made) causes of infertility are there?

A
  • Congenital (absence of vas deferens in CF)
  • Iatrogenic (vasectomy)
  • Obstructive azoospermia (obstruction of sperm leaving testicles)
  • Erectile dysfunction (retrograde ejaculation, mechanical impairment, psychology)
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11
Q

What pattern of LH, FSH and T would you see in hyperprolactinaemia?

A
  • LH down
  • FSH down
  • T down
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12
Q

What pattern of LH, FSH and T would you see in primary testicular failure (e.g. in Klinefelters)?

A
  • LH up
  • FSH up
  • T down
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13
Q

What diseases are there that affect the hypothalamus to cause hypogonadism?

A
  • Congenital hypogonadotrophic hypogonadism e.g. anosmic (Kallmann Syndrome) or normosmic
  • Acquired hypogonadotrophic hypogonadism e.g. low BMI, excess exercise, stress
  • Hyperprolactinaemia
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14
Q

What do diseases that cause hypogonadism via the hypothalamus do to GnRH, LH + FSH and T?

A
  • GnRH down (not measurable tho)
  • LH and FSH down (hypogonadotrophic)
  • T down (hypogonadism)
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15
Q

What diseases are there that affect the pituitary to cause hypogonadism?

A
  • Tumour
  • Infiltration (e.g. of sarcoid/TB)
  • Apoplexy- sudden loss of blood supply
  • Surgery
  • Radiation
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16
Q

What do diseases that cause hypogonadism via the pituitary do to LH, FSH and T?

A
  • LH down FSH down (hypogonadotrophic)
  • T down (hypogonadism)
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17
Q

What diseases are there that affect the gonads to cause male hypogonadism?

A
  • Congenital primary hypogonadism e.g. Klinefelters (47XXY)
  • Acquired primary hypogonadism e.g. cryptorchidism, trauma, chemo, radiation
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18
Q

What do diseases that cause hypogonadism via the gonads do to LH, FSH and T?

A
  • LH up FSH up (hypergonadotrophic)
  • T down (hypogonadism)
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19
Q

What causes Kallmann’s syndrome?

A
  • Within first 10 weeks of conception, GnRH neurones migrate from the olfactory placode in the primitive nose to the thalamus along with olfactory fibres
  • Failure of this migration causes Kallmann’s
  • Low GnRH, low FSH and LH, low T
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20
Q

What are the symptoms of Kallmann’s syndrome?

A
  • Anosmia
  • Cyptorchidism
  • Failure of puberty- lack of testicle development, micropenis, primary amennorhoea
  • Infertility
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21
Q

What is Klinefelter’s syndrome?

A
  • Where males have XXY
  • 1-2/1000 births- fairly common
  • Higher LH and FSH, low T (hypergonadotrophic hypogonadism)
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22
Q

What are the symptoms of Klinefelter’s syndrome?

A
  • Tall stature
  • Narrow shoulders
  • Wide hips
  • Breast development
  • Low bone density
  • Less facial hair
  • Reduced chest hair
  • Female-type pubic hair pattern
  • Small penis and testes
  • Infertility (accounts for up to 3% of cases)
  • Mildly impaired IQ
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23
Q

What things do we assess about a patient’s history to diagnose male infertility?

A
  • Duration
  • Previous children
  • Pubertal milestones
  • Associated symptoms (e.g. T deficiency, PRL symptoms, CHH features)
  • Medical and surgery history
  • Family history
  • Social history
  • Medications/drugs
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24
Q

What things do we assess as part of a patient examination to diagnose male infertility?

A
  • BMI
  • Sexual characteristics
  • Testicular volume
  • Epididymal hardness
  • Presence of vas deferens
  • Other endocrine signs
  • Syndromic features
  • Anosmia
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25
Q

What are the main investigations to diagnose male infertility?

A
  • Semen analysis
  • Blood tests
  • Microbiology
  • Imaging
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26
Q

What are the normal ranges for semen analysis?

A
  • Normal volume is 1.5ml
  • Normal sperm conc is 15 million/ml
  • Normal total motility is 40%
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27
Q

What do blood tests for male infertility include?

A
  • LH, FSH, PRL
  • Morning fasting testosterone
  • Karyotyping
28
Q

What does imaging for infertility in males include?

A
  • Scrotal US/doppler (for varicocoele/obstruction, testicular volume)
  • MRI pituitary (if low LH/FSH or high PRL)
29
Q

What are general lifestyle treatments for infertility in males?

A
  • Optimise BMI
  • Smoking cessation
  • Alcohol reduction/cessation
30
Q

What are specific treatments for infertility in males?

A
  • Dopamine agonist for hyper PRL
  • Gonadotrophin treatment for fertility (will also increase T)
  • Testosterone (for symptoms if no fertility required- as this requires gonadotrophins)
  • Surgery (e.g. Micro Testicular Sperm Extraction (micro TESE))
31
Q

What ovarian causes of infertility are there? (40%)

A
  • Anovulation- access controlling ovarian hormones is defective
  • Corpus luteum insufficiency (not enough progesterone to support early pregnancy stages)
32
Q

What tubal causes are there? (30%)

A
  • Infection
  • Trauma
  • Endometriosis
33
Q

What is endometriosis?

A
  • Presence of functioning endometrial tissue outside the uterus
  • Occurs in 5% of women
  • Responds to oestrogen
34
Q

What are the symptoms of endometriosis?

A
  • More menstrual pain
  • Menstrual irregularities
  • Deep dyspareunia- painful intercourse
  • Infertility
35
Q

What is the treatment for endometriosis?

A
  • Hormonal (e.g. continuous OCP, progesterone)
  • Laparoscopic ablation
  • Hysterectomy (removal of womb)
  • Bilateral Salpingo-oophorectomy (take out tubes and ovaries where endometriosis is)
36
Q

What uterine causes of infertility are there? (10%)

A
  • Adhesions (synechiae)
  • Congenital malformation
  • Chronic endometritis (TB)
  • Fibroids
37
Q

What are fibroids?

A
  • Benign tumours of myometrium
  • Up to 20% of pre-menopausal women get one (increases with age)
  • Responds to oestrogen
38
Q

What are the symptoms of fibroids?

A
  • Usually asymptomatic
  • More menstrual pain
  • Menstrual irregularities
  • Deep dyspareunia
  • Infertility
39
Q

Treatments for fibroids?

A
  • Hormonal (e.g. continuous OCP, progesterone, continuous GnRH agonists)
  • Hysterectomy
40
Q

What cervical causes of infertility are there? (5%)

A

Ineffective sperm penetration due to:

  • Chronic cervicitis
  • Immunological (antisperm antibodies)
41
Q

What pelvic causes of infertility are there? (5%)

A
  • Endometriosis
  • Adhesions
42
Q

What do diseases that affect the hypothalamus to cause hypogonadism do to GnRH, LH + FSH and E2?

A
  • GnRH down (not measurable tho)
  • LH and FSH down (hypogonadotrophic)
  • E2 down (hypogonadism)
43
Q

What do diseases that cause hypogonadism via the pituitary do to LH, FSH and E2?

A
  • LH down FSH down (hypogonadotrophic)
  • E2 down (hypogonadism)
44
Q

What diseases are there that affect the gonads to cause female hypogonadism?

A
  • Congenital primary hypogonadism e.g. Turners (45X0), premature ovarian insufficiency (POI)
  • Acquired primary hypogonadism e.g. POI, trauma, chemo, radiation, surgery
  • Polycystic ovaries syndrome (PCOS)
45
Q

What do diseases that affect the gonads to cause hypogonadism do to LH, FSH and E2?

A
  • LH up FSH up (hypergonadotrophic)
  • E2 down (hypogonadism)
46
Q

What other diseases (excluding those that affect the pituitary, hypothalamus and gonads) are there that cause hypogonadism in women?

A

Hyper/hypothyroidism (reduces bioavailable oestradiol)

47
Q

How do we diagnose PCOS?

A

Exclude other reproductive disorders then use Rotterdam PCOS diagnostic criteria (need 2 out of 3 criteria):

  • Oligo or anovulation
  • Clinical and/or biochemical hyperandrogenism
  • Polycystic ovaries on ultrasound (by themselves doesn’t mean PCOS)
48
Q

What does oligo or anovulation mean?

A
  • Less than 21 days or more than 35 day cycles
  • Less than 8/9 cycles a year
  • More than 90 days for any cycle
  • If necessary, anovulation can be proven by lack of progesterone rise or ultrasound
49
Q

What does clinical and/or biochemical hyperandrogenism mean?

A
  • Clinical- acne, hirsutism (Ferriman-Gallwey score), alopecia (Ludwig score)
  • Biochemical- raised androgens (e.g. Testosterone)
50
Q

What measurement do we need for a diagnoses of PCOS via ultrasound?

A
  • > 20 follicles or >10ml either ovary on TVUS
  • Don’t use US until 8 years post-menarche (due to high incidence of multifollicular ovaries at this stage)
51
Q

What is the worst metabolic risk combination for PCOS?

A

Oligo or anovulation and clinical +/- biochemical hyperandrogenism

52
Q

How do we treat irregular menses/amenorrhoea for PCOS?

A
  • Oral contraceptive pill
  • Metformin
53
Q

How do we treat the infertility part of PCOS?

A
  • Clomiphene
  • Letrozole
  • IVF
54
Q

How do we treat increased insulin resistance in PCOS?

A
  • Diet and lifestyle
  • Metformin
55
Q

How do we treat hirsutism in PCOS?

A
  • Anti-androgens (e.g. spironolactone)
  • Creams, waxing, laser
56
Q

How common is Turner’s syndrome (45X0)?

A

Affects 1 in 2500 live female births

57
Q

How does Turner’s syndrome affect hormone levels?

A

Increased FSH and LH but lower E2 (hypergonadotrophic hypogonadism)

58
Q

What are the symptoms of Turner’s syndrome?

A
59
Q

What things do we assess about a patient’s history to diagnose female infertility?

A
  • Duration
  • Previous children
  • Pubertal milestones
  • Menstrual history
  • Medications/drugs
60
Q

What things do we assess as part of a patient examination to diagnose female infertility?

A
  • BMI
  • Sexual characteristics
  • hyperandrogenism signs
  • Pelvic examination
  • Other endocrine signs
  • Syndromic features
  • Anosmia
61
Q

What are the main investigations to diagnose female infertility?

A
  • Pregnancy test
  • Blood test
  • Microbiology
  • Imaging
62
Q

What does a pregnancy test include?

A

Urine or serum hCG

63
Q

What does a blood test for infertility in women include?

A
  • LH, FSH, PRL
  • Oestradiol, androgens
  • Mid-luteal progesterone (hopeful rise means successful ovulation)
  • Karyotyping
64
Q

What does imaging for infertility in women include?

A
  • Transvaginal ultrasound
  • Hysterosalpingogram
  • MRI pituitary (if low LH/FSH or high PRL)
65
Q

What is POI?

A

Early menopause: Premature Ovarian Insufficiency

  • Same Symptoms as per Menopause
  • Previously called ‘Premature Ovarian Failure’ POF
  • Conception can happen in 20%
66
Q

What is the diagnosis for POI?

A

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

67
Q

What are the causes of POI?

A
  • Autoimmune
  • Genetic eg Turner’s Syndrome
  • Cancer therapy Radio- / Chemo-therapy in the past

endo (12 decks)

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