Infertility Flashcards

-> Reproductive function: Describe the function and regulation of the male and female reproductive systems. -> Reproductive disorders: Summarise the pathology and pathophysiology of the male and female reproductive systems. -> Reproductive disorders: Describe the clinical features and treatment options of reproductive disorders.

1
Q

What is inferility?

A
  • A disease of the reproductive system defined by the failure to achieve a clinical pregnancy after >12 months of regular unprotected sexual intercourse
    • Regular intercourse: every 2-3 days
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2
Q

What is primary infertility?

A
  • When patient did not have a live birth previously
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3
Q

What is secondary infertility?

A
  • When patient had a live birth more than 12 months previously
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4
Q

How common is infertility?

A

Affects 1 in 7 couples

Half of these will then conceive in the next 12 months

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5
Q

What are the psychological distresses of infertility (5)?

A
  • No biological child
  • Impact on couples wellbeing
  • Impact on larger family
  • Investigations
  • Treatments (failure)
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6
Q

What is the cost to society due to infertility (4)?

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

What are the male infertility causes divided into (3)?

A
  • Pre-testicular
  • Testicular
  • Post-testicular
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8
Q

What are the main pre-testicular non-endocrinological causes of infertility (2C / 3AE)?

A
  • Congenital: Kleinfelters - 47XXY / Y chromosome deletion
  • Acquired endocrinopathies: HPG / T / PRL issues
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9
Q

What are the main post-testicular causes of male infertility (4)?

A
  • Congenital (Absence of vas deferens in patients with cystic fibrosis)
  • Obstructive azoospermia
  • Erectile dysfunction (Retrograde ejaculation / Mechanical impairement / Psychological)
  • Iatrogenic (Vasectomy)
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10
Q

What are the 3 main types of erectile dysfunction?

A
  • Retrograde ejaculation
  • Mechanical impairment
  • Psychological
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11
Q

What is retrograde ejaculation?

A
  • The semen within the urethra travels back into the bladder
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12
Q

What is the function of the vas deferens?

A
  • Transports mature sperm from the epididymis to the urethra in preparation for ejaculation
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13
Q

What are the main testicular non-endocrinical causes of infertility (7)?

A
  • Congenital
  • Cryptorchidism
  • Infection (STDs)
  • Immunological (Antisperm antibodies)
  • Vascular (varicoele)
  • Trauma / Surgery
  • Toxins (Chemotherapy / DXT / Drugs / Smoking)
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14
Q

What is cryptorchidism?

A
  • Undescended testis
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15
Q

What are the five main types of female infertility causes?

A
  • Ovarian causes: Anovulation / Corpus luteum insufficiency
  • Tubal causes: Infection / Endometriosis / Trauma
  • Uterine causes: Congenital malformations / Infection / Inflammation / Scarring (adhesions) / Fibroids
  • Cervical causes (ineffective sperm penetration due to chronic cervicitis) and antisperm ABs
  • Pelvic causes: Endometriosis / Infection / Inflammation / Immunological (antisperm Ab)
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16
Q

Which hormone is mainly secreted by the corpus lutuem?

A
  • Progesterone
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17
Q

What is the main cause of infertility in females?

A
  • Ovarian causes (anovulation, and a corpus luteum insufficiency)
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18
Q

What is endometriosis?

A
  • A condition resulting from the appearance of functioning endometrial tissue outside the uterus and causing pelvic pain
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19
Q

What are the symptoms of endometriosis (4)?

A
  • Menstrual pain
  • Menstrual irregularities
  • Deep dyspareunia (Pain during sexual intercourse)
  • Infertility
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20
Q

Why do individuals with endometriosis experience menstrual pain?

A
  • Endometrial tissue responds to oestrogen in a cyclic manner
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21
Q

What are the treatments for endometriosis (3)?

A
  • Hormonal (continuous OCP, progesterone)
  • Laparscopic ablation (removal of endometrial tissue)
  • Hysterectomy / Bilateral salpingo-oophorectomy
    • Moves ovaries and tubes
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22
Q

What are fibroids?

A
  • Benign tumours of the myometrium that respond to oestrogen
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23
Q

What are the symptoms of fibroids (5)?

A
  • Asymptomatic usually
  • Increased menstrual pain
  • Menstrual irregularities
  • Deep dyspareunia
  • Infertility
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24
Q

What are the treatments available for fibroids (2)?

A
  • Hormonal
    • Continuous OCP
    • Progesterone
    • Continuous GnRH agonist
  • Hysterectomy
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25
Q

What are the 2 endocrine male infertility causes?

A
  • Hypogonadotrophic hypogonadism
  • Hypergonadotrophic hypogonadism
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26
Q

What are the causes of male hypogonadotrophic hypogonadism (4)?

A
  • Congenital Hypogonadotrophic Hypogonadism: Anosmic (Kallmann Syndrome) or Normosmic
  • Acquired Hypogonadotrophic Hypogonadism: Low BMI / XS exercise / Stress
  • Hyperprolactinaemia
  • Hypopituitarism: Tumour / Infiltration / Apoplexy / Surgery / Radiation
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27
Q

What is the hormone profile of male hypogonadotrophic hypogonadism?

A
  • ↓LH
  • ↓FSH
  • ↓T
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28
Q

What are the causes of male hypergonadotrophic hypogonadism (2)?

A
  • Congenital Primary Hypogonadism: Klinefelters (47XXY)
  • Acquired Primary Hypogonadism: Cryptorchidism / Trauma / Chemo / Radiation
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29
Q

What is the hormone profile of male hypergonadotrophic hypogonadism?

A
  • ↑LH
  • ↑FSH
  • ↓T
30
Q

What are the symptoms of testosterone deficiency (9)?

A
  • Sexual dysfunction (Reduced libido)
  • Erectile dysfunction (Loss of early morning erections)
  • Decreased facial hair growth
  • Increased fat & Decreased muscle mass
  • Decreased spermatogenesis
  • Decreased energy levels - General wellbeing & Fatigue
  • Mood disturbance
  • Decreased bone health -Via conversion to oestrogen
  • Gynaecomastia
31
Q

What type of hypogonadism is Kallmann syndrome?

A

Hypogonadotrophic hypogonadism / Congenital secondary hypogonadism

Affects both male & female

32
Q

What is the hormone profile of Kallmann’s Syndrome?

A
  • ↓GnRH
  • ↓LH
  • ↓FSH
  • ↓T
33
Q

What are the clinical features of Kallman syndrome (4)?

A
  • Anosmia
  • Cryptorchidism
  • Infertility
  • Failure of puberty:
    • Male: Lack of testicle development / Micropenis
    • Female: Primary amenorrhea
34
Q

How does Kallmann syndrome cause male infertility?

A
  • There is failure of migration of GnRH neurones with olfactory fibres to the hypothalamus, therfore leading to a hypogonaodtrophic hypogonadism as there is a failure to secrete GnRH
35
Q

What testicular volume range is associated with a better prognosis in patients with Kallmann syndrome?

A
  • > 6ml
36
Q

What are the causes of hyperprolactinaemia (7)?

A
  • Prolactinoma (micro/macro)
  • Pituitary stalk compression
  • Pregnancy & breast feeding
  • Medication (dopamine antagonists, including anti-emetics and antipsychotics)
  • Oestrogens (OCP)
  • PCOS
  • Hypothyroidism
37
Q

What is the hormone profile of hyperprolactinaemia?

A
  • ↓GnRH
  • ↓LH
  • ↓FSH
  • ↓T
  • ↑PRL
38
Q

What effect does prolactin have on kisspeptin neurones?

A
  1. Inhibits kisspeptin neurones
  2. Thus decreases pulsatile action of GnRH secretion from hypothalamic neurones
  3. This causes a downstream inhibition on LH and FSH release from the anterior pituitary gonaodtrophs, as well as testosterone release from the testes
39
Q

What is the available treatment for individuals with hyperprolactinaemia (3)?

A
  • Dopamine agonists (cabergoline)
  • Transsphenoidal surgery
  • Sellar radiotherapy
40
Q

What agonists can be prescribed to treat hyperprolactinaemia?

A
  • Dopamine agonists (cabergoline)
    • Dopamine inhibits prolactin release from lacotrophs
41
Q

What type of hypogonadism is Klinefelters syndrome?

A
  • Hypergonadotrophic hypogonadism / Congenital primary hypogonadism, there is an insufficient secretion of testosterone from the testes

Affects only males

42
Q

What is the hormone profile of Klinefelters syndrome?

A
  • ↑LH
  • ↑FSH
  • ↓T
43
Q

What are the clinical features of Klinefelters syndrome (11)?

A
  • Tall stature
  • Decreased facial hair
  • Breast development
  • Female-type pubic hair pattern
  • Small penis and testes
  • Infertility
  • Mildly impaired IQ
  • Narrow shoulders
  • Reduced chest hair
  • Wide hips
  • Low bone density
44
Q

What is the normal testicular volume for a male?

A
  • 50ml
45
Q

What happens to testicular volume in a patient with Klinefelter’s syndrome?

A

Low testicular volume (1.5ml)

46
Q

What impact does Klinefelters syndrome have on LH and FSH levels?

A
  • Dysregulation of negative feedback system, stimulating increased secretion of LH and FSH due to low testosterone
47
Q

What are the 2 endocrine female infertility causes?

A
  • Hypogonadotrophic hypogonadism
  • Hypergonadotrophic hypogonadism
48
Q

What are the causes of female hypogonadotrophic hypogonadism (4)?

A
  • Congenital Hypogonadotrophic Hypogonadism: Anosmic (Kallmann Syndrome) or Normosmic
  • Acquired Hypogonadotrophic Hypogonadism: Low BMI / XS exercise / Stress
  • Hyperprolactinaemia
  • Hypopituitarism: Tumour / Infiltration / Apoplexy / Surgery / Radiation
49
Q

What is the hormone profile of female hypogonadotrophic hypogonadism?

A
  • ↓LH
  • ↓FSH
  • ↓E2 (Oestrogen)
50
Q

What are the causes of female hypergonadotrophic hypogonadism (2)?

A
  • Congenital Primary Hypogonadism: Premature Ovarian Insufficiency (POI) from Turner’s (47XXY)
  • Acquired Primary Hypogonadism: Premature Ovarian Insufficiency (POI) from radiation or chemo / Surgery / Trauma
  • Polycystic Ovarian Syndrome (PCOS)
51
Q

What is the hormone profile of hypergonadotrpohic hypogonadism?

A
  • ↑LH
  • ↑FSH
  • ↓E2 (Oestrogen)
52
Q

What is ammenorrhoea?

A
  • No periods for at least 3-6 months or up to 3 periods a year
53
Q

What is primary amenorrhoea?

A
  • The absence of menarche by age 16
54
Q

What is secondary ammenorrhoa?

A
  • Irregular periods, anovulatory for first 18 months
    • Periods START but cease for 3-6 month minimum
55
Q

What is oligo-menorrhoea?

A
  • Irregular or infrequent periods >35 day cycle
  • 4-9 cycles per year
56
Q

What is the initial test that should be conducted for a patient presenting with female inferility?

A
  • Pregnancy test (β-HCG)
57
Q

What are the symptoms of menopause (9)?

A
  • Mood disturbance
  • Skin dryness / Hair thinness
  • Weight gain
  • Cessation of fertility
  • Osteoporosis (Decreased bone mineral density) (E2 stimulates osteoblasts)
  • Climacteric (Irregular periods in years close to menopause)
  • Hot flushes / Sweating / Sleep disturbance
  • Sexual dysfunction (Vaginal dryness / Decreased libido)
  • Amennorhoea
58
Q

How are the symptoms of menopause managed?

A
  • Oestrogen replacement
    • Oestrogen stimulates the endometrium
    • Add progesterone (if endometrium is intact)
      • Prevents risk of Endometrial hyperplasia / Cancer
59
Q

What is the hormone profile in a patient with premature ovarian insufficiency (POI)?

A
  • ↑LH
  • ↑FSH
  • ↓E2 (Oestrogen)
60
Q

What are the causes of premature ovarian insufficiency (POI) (3)?

A
  • Autoimmune
  • Genetic
    • Fragile X syndrome
    • Turner’s syndrome
  • Cancer therapy
    • Radiotherapy
    • Chemotherapy
61
Q

What are the symptoms of premature ovarian insufficiency (POI) (11)?

A
  • Mood disturbance
  • Skin dryness / Hair thinness
  • Weight gain
  • Infertility
  • Osteoporosis (Decreased bone mineral density) (E2 stimulates osteoblasts)
  • Climacteric (Irregular periods in years close to menopause)
  • Hot flushes / Sweating / Sleep disturbance
  • Sexual dysfunction (Vaginal dryness / Decreased libido)
  • Amennorhoea
  • Sleep disturbances
  • High FSH > 25iU/L (x2 at least 4wks apart)

Same Symptoms as Menopause

62
Q

How are the symptoms of premature ovarian insufficiency (POI) managed?

A
  • Oestrogen replacement
    • Oestrogen stimulates the endometrium
    • Add progesterone (if endometrium is intact)
      • Prevents risk of Endometrial hyperplasia / Cancer
63
Q

What is the hormone pattern in a female patient with anorexia nervosa-induced amenorrhoea?

A
  • There is hypogonadotrophic hypogonadism
    • Low FSH/LH and low oestradiol
    • There is low leptin which feedback on kisspeptin neurones to reduce pulsatility
64
Q

What is the hormone profile of Polycystic Ovarian Syndrome (PCOS)?

A
  • ↑LH
  • ↑FSH
  • ↓E2 (Oestrogen)
65
Q

What are the symptoms of PCOS (4)?

A
  • Increased insulin resistance (impaired glucose homeostasis, T2DM, gestational DM)
  • Hirsutism
  • Increased endometrial cancer risk
  • Infertility (irregular menses)
66
Q

What criteria is used to diagnose a patient with PCOS?

A

Rotterdam PCOS diagnostic criteria (2 of 3)

67
Q

What are the three Rotterdam PCOS Diagnostic Criteria?

A
  • Oligo or anovulation
  • Clinical/biochemical hyperandrogenism
    • Clinical (Acne, hirsutism, alopecia)
  • Polycystic ovaries (US) (>20 follicles)
68
Q

How is PCOS manageed?

A
  • Increased insulin resistance (impaired glucose homeostasis, T2DM, gestational DM)
    • Metformin & Lifestyle & Diet
  • Hirsutism
    • Anti-Androgens
  • Increased endometrial cancer risk
    • Progesterone courses
  • Infertility (irregular menses)
    • Metformin & IVF or OCP
69
Q

What drug can be prescribed as an anti-androgen?

A
  • Spironolactone
70
Q

What are the clinical features in a patient with Turner’s syndrome (45X0) (14)?

A
  • Short stature
  • Low hairline
  • Shield chest
  • Wide spaced nipples
  • Short 4th metacarpal
  • Small fingernails
  • Brown nevi
  • Characteristic facies
  • Webbed neck
  • Coarctication of aorta
  • Poor breast development
  • Elbow deformity
  • Underdeveloped reproductive tract
  • Amenorrhoea
71
Q

The initial test to a female patient presenting with infertility is a pregnancy test (β-hCG). What does β-hCG stand for?

A

Human Chorionic Gonadotrophin (hCG)