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Y2 BRS Endocrinology > Infertilty > Flashcards

Infertilty Flashcards

1
Q

What is the definition of infertily?

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 regular intercourse defined as?

A

Every 2-3 days

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3
Q

What is primary infertilty?

A

When have not had a live birth previously

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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

What are the impacts of infertilty?

A
  1. Psychological distress to the couple

2. Cost to society

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6
Q

What psychological distress to the couple does infertility bring?

A
  • No biological child
  • Impact on couples wellbeing
  • Impact on larger family
  • Investigations
  • Treatments (often fail)
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7
Q

What cost to society does infertility bring?

A
  • Less births
  • Less tax income
  • Investigation costs
  • Treatment costs
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8
Q

What are the causes of male infertility?

A
  1. Pre-testicular
  2. Testicular
  3. Post-testicular
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9
Q

What are the pre-testicular causes of male infertility?

A

Congenital & Acquired Endocrinopathies:

  • Klinefelters 47XXY
  • Y chromosome deletion
  • HPG, T, PRL
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10
Q

What are the testicular causes of male infertility?

A 
• (Congenital)
• Cryptorchidism
• Infection 
  -STDs
• Immunological
  -Antisperm Abs
• Vascular 
  -Varicocoele
• Trauma/Surgery
• Toxins 
  -Chemo/DXT/Drugs/Smoking
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11
Q

What are the post-testicular causes of male infertility?

A 
• Congenital 
  -Absence of vas deferens in CF
• Obstructive Azoospermia
• Erectile Dysfunction 
  -Retrograde Ejaculation 
  -Mechanical Impairment 
  -Psychological
• Iatrogenic 
  -Vasectomy
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12
Q

What is cryptorchidism?

A

Undescended testis

90% in inguinal canal

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13
Q

What is undescended testis?

A

Cryptorchidism

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14
Q

What are the causes of female infertility?

A
  1. Cervical causes (5%)
  2. Ovarian causes (40%)
  3. Tubal causes (30%)
  4. Uterine causes (10%)
  5. Pelvic causes (5%)
  6. Unexplained (10%)
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15
Q

What are the cervical causes of female infertility?

A

Ineffective sperm penetration due:

  • Chronic cervicitis
  • Immunological (antisperm Ab)
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16
Q

What are the ovarian causes of female infertility?

A
  • Anovulation (Endo)

- Corpus luteum insufficiency

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17
Q

What are the tubal causes of female infertility?

A

Tubopathy due:

  • Infection
  • Endometriosis
  • Trauma
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18
Q

What are the uterine causes of female infertility?

A

Unfavourable endometrium due:

  • Chronic endometritis (TB)
  • Fibroid
  • Adhesions (Synechiae)
  • Congenital malformation
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19
Q

What are the pelvic causes of female infertility?

A
  • Endometriosis

- Adhesions

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20
Q

What is endometriosis?

A

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

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21
Q

What are the symptoms of endometriosis?

A
  • ↑ Menstrual pain
  • Menstrual irregularities
  • Deep dyspareunia
  • Infertility
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22
Q

What are the treatments of endometriosis?

A
  • Hormonal (eg continuous OCP, prog)
  • Laparascopic ablation
  • Hysterectomy
  • Bilateral Salpingo-oophorectomy
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23
Q

What are fibroids?

A

Benign tumours of the myometrium

reponds to oestrogen

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24
Q

What are the symptoms of fibroids?

A

Usually asymptomatic

↑ Menstrual pain
Menstrual irregularities
Deep dyspareunia
Infertility

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25
Q

What are the treatments of fibroids?

A

Hormonal (eg continuous OCP, prog, continuous GnRH agonists)

Hysterectomy

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26
Q

Describe the HPG (hypothalamic-pituitary-gonadal) axis.

A
  1. Kisspeptin neurones
  2. GnRH neurones
    Hypophyseal-portal circulation
  3. Gondatroph -> LH and FSH
    Systemic cirulcaiton
  4. Testosterone/oestrogen
    (Also, progesterone/activin/inhibin)
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27
Q

What is hypogonadism from an issue in the hypothalamus called?

A

(not measurable)

Hypogonadotrophic hypogonadism

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28
Q

What are the hormone levels from hypogonadism from an issue in the hypothalamus called?

A

↓GnRH
↓LH ↓FSH
↓T

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29
Q

What is hypogonadism from an issue in the anterior pituitary gland called?

A

Hypogonadotrophic hypogonadism

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30
Q

What is hypogonadism from an issue in the gonads called?

A

Hypergonadotrophic hypogonadism

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31
Q

What are the hormone levels like in hypogonadotrophic hypogonadism?

A

↓LH ↓FSH

↓T

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32
Q

What are the hormone levels like in hypergonadotropic hypogonadism?

A

↑LH ↑FSH

↓T

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33
Q

What issues in the hypothalamus lead to male infertility?

A
  1. Congenital Hypogonadotrophic Hypogonadism
    - Anosmic (Kallmann Syndrome)
    - or Normosmic
  2. Acquired Hypogonadotrophic Hypogonadism
    - Low BMI
    - XS exercise
    - Stress
  3. Hyperprolactinaemia
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34
Q

What issues in the anterior pituitary gland lead to male infertility?

A

Hypopituitarism

  • Tumour
  • Infiltration
  • Apoplexy
  • Surgery
  • Radiation
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35
Q

What issues in the gonads lead to male infertility?

A
  1. Congenital Primary Hypogonadism
    - Klinefelters (47XXY)
  2. Acquired Primary Hypogonadism
    - Cryptorchidism
    - Trauma
    - Chemo
    - Radiation
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36
Q

What issues outside the HPG axis lead to male infertility?

A
  1. Androgen Receptor Deficiency (rare)

2. Hyper/Hypothyroidism (reduced bioavailable testosterone)

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37
Q

What are the hormones like in an hyperprolactinaemia?

A

LH/FSH down

T down

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38
Q

What are the hormones likes in primary testicular failure e.g. Klinefelter’s syndrome?

A

LH/FSH up

T down

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39
Q

What is Kallmann syndrome?

A

Failure of migration of GnRH neurons with olfactory fibres

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40
Q

What are hormone levels like in Kallmann syndrome?

A

Hypogonadotrophic hypogonadism

↓GnRH
↓LH ↓FSH
↓T

41
Q

What are the symptoms of Kallmann syndrome?

A

Anosmia

REPRODUCTIVE FEATURES:
Cryptorchidism
Failure of puberty
 -Lack of testicle dvlpt
 -Micropenis
 -Primary amenorrhoea
Infertility
42
Q

What are the consequences of a 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
43
Q

What are the symptoms of a hyperprolactinaemia?

A

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

44
Q

What are the treatments for a hyperprolactinaemia?

A
  • Dopamine agonist (Cabergoline)

- Surgery/DXT

45
Q

What are some sex chromosome disorders?

A

XXY Klinefelter’s Syndrome
XYY Syndrome

XXX Triple X Syndrome
X0 Turner Syndrome
Fragile X Syndrome

46
Q

What is the karyotype for Klinefelter’s Syndrome?

47
Q

What is the karyotype for Turner Syndrome?

48
Q

What are the symptoms of Klinefelter’s Syndrome?

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
49
Q

What history is asked for male inferility?

A

-Duration
-Previous children
-Pubertal milestones
-Associated symptoms (eg. T deficiency, PRL symptoms,
CHH features)
-Medical & surgical history
-Family history
-Social history
-Medications/drugs

50
Q

What examinations are done for male infertility?

A
  • BMI
  • Sexual characteristics
  • Testicular volume
  • Epididymal hardness
  • Presence of vas deferens
  • Other endocrine signs
  • Syndromic features
  • Anosmia
51
Q

What are the main investigations done for male infertility?

A
  1. Semen analysis
  2. Blood tests
  3. Microbiology
  4. Imaging
52
Q

What is azospermia?

53
Q

What is the term for no sperm?

A

Azospermia

54
Q

What is oligospermia?

A

Reduced sperm

55
Q

What is the term for reduced sperm?

A

Oligospermia

56
Q

What blood tests are done for male infertility?

A
  • LH, FSH, PRL
  • Morning Fasting Testosterone
  • Sex Hormone Binding Globulin (SHBG)
  • Albumin, Iron studies
  • Also Pituitary/Thyroid profile
  • Karyotyping
57
Q

What microbiology is done for male infertility?

A
  • Urine test

- Chlamydia swab

58
Q

What imaging is done for male infertility?

A
  • Scrotal US/Doppler

- MRI pituitary

59
Q

When is MRI pituitary used to investigate male infertility?

A

if low LH/FSH or high PRL

60
Q

When is scrotal US/Doppler used to investigate male infertility?

A
  • For variocoele/obstruction

- Testicular volume

61
Q

What are general lifestyle treatments for male infertility?

A
  • Optimise BMI
  • Smoking cessation
  • Alcohol reduction/cessation
62
Q

What are specific treatments for male infertiltiy?

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))
63
Q

What is primary amenorrhea?

A

Later than 16yrs is regarded as abnormal

64
Q

What is secondary amenorrhea?

A

Common for Periods to be irregular / anovulatory for first 18months

Periods start but then stop for at at least 3-6 months

65
Q

What is amenorrhea?

A

Absence of periods

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

66
Q

What is oligomenorrhea?

A

Few periods

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

67
Q

What are the hormone levels like in Premature Ovarian Insufficiency?

A

LH/FSH up

Oestradiol down

68
Q

What are the symptoms of Premature Ovarian Insufficiency?

A

Same as menopause

69
Q

What are the causes of Premature Ovarian Insufficiency?

A
  • Autoimmune
  • Genetic eg Fragile X Syndrome / Turner’s Syndrome
  • Cancer therapy Radio- / Chemo-therapy in the past
70
Q

What are the hormone levels like in Anorexia Nervosa - Induced Amenorrhea?

71
Q

What issues in the hypothalamus lead to female infertility?

A
  1. Congenital Hypogonadotrophic Hypogonadism
    - Anosmic (Kallmann Syndrome)
    - or Normosmic
  2. Acquired Hypogonadotrophic Hypogonadism
    - Low BMI
    - XS exercise
    - Stress
  3. Hyperprolactinaemia
72
Q

What issues in the anterior pituitary gland lead to female infertility?

A

Hypopituitarism

  • Tumour
  • Infiltration
  • Apoplexy
  • Surgery
  • Radiation
73
Q

What issues in the gonads lead to female infertility?

A
  1. Polycystic Ovarian Syndrome (PCOS)
  2. Acquired Primary Hypogonadism
    - Premature Ovarian Insufficiency (POI)
    - Surgery, Trauma, Chemo, Radiation
  3. Congenital Primary Hypogonadism
    - Turners (45X0)
    - Premature Ovarian Insufficiency (POI)
74
Q

What issues in outside the HPG axis lead to female infertility?

A

Hyper/hypothyroidism

reduced bioavailability available

75
Q

What is the most common endocrine disorder in women and most common cause of infertility in women?

A

Polycystic Ovarian Syndrome

76
Q

What is used to diagnose Polycystic Ovarian Syndrome?

A

Rotterdam PCOS Diagnostic Criteria (2 out of 3)

77
Q

What is Rotterdam PCOS Diagnostic Criteria?

A
  1. Oligo or Anovulation
  2. Clinical +/- Biochemical Hyperandrogenism
  3. Polycystic Ovaries (US)
78
Q

What is the worst metabolic risk combination in Rotterdam PCOS Diagnostic Criteria?

A

Oligo or Anovulation

and Clinical +/- Biochemical Hyperandrogenism

79
Q

How is oligo or anovulation assessed?

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

80
Q

What are the features of clinical hyperandrogenism?

A

Acne
Hirsutism
Alopecia

81
Q

How is hirsutism scored?

A

Ferriman-Gallwey Score

82
Q

How is alopecia scored?

A

Ludwig Score

83
Q

What are the features of biochemical hyperandrogenism?

A

Raised androgens

e.g. testosterone

84
Q

How is polycystic ovaries assessed?

A

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

85
Q

Why should you not use US until 8 years post-menarche for assessing polycystic ovaries?

A

Due to high incidence of multi-follicular

ovaries at this stage

86
Q

When should you use US for polycystic ovaries?

A

8 years post-menarche

87
Q

What treatments can be used for irregular menses/amenorrhea in PCOS?

A
  1. Oral contraceptive pill

2. Metformin

88
Q

What treatments can be used for (PCOS) infertility?

A
  1. Clomiphene
  2. Letrozole
  3. IVF
89
Q

What treatments can be used for the increased insulin resistance -> impaired glucose homeostasis (T2DM, gestational DM)?

A
  1. Diet and lifestyle

2. Metformin

90
Q

What treatments can be used for hirsutism in PCOS?

A
  1. Anti-androgens e.g. spironolactone

2. Creams, waxing, laser

91
Q

What treatments can be used the increased risk of endometrial cancer in PCOS?

A
  1. Oral contraceptive pill

2. Progesterone courses

92
Q

What are the symptoms of Turners Syndrome?

A
  • Short stature
  • Low hairline
  • Shield chest
  • Wide-spaced nipples
  • Short 4th metacarpal
  • Small fingernails
  • Brown nevi
  • Characteristic facies
  • Webbed neck
  • Coarctation of aorta
  • Poor breast development
  • Elbow deformity
  • Underdeveloped reproductive tract
  • Amenorrhea
93
Q

What history should be asked for Turners Syndrome?

A
  • Duration
  • Previous children
  • Pubertal milestones
  • Breastfeeding?
  • Menstrual History: oligomenorrhoea or 1/20 amenorrhoea
  • Associated symptoms (eg. E deficiency, PRL symptoms, CHH features)

-Medical & surgical history, family history, social history, medications/drugs

94
Q

What examination should be done for Turners Syndrome?

A
  • BMI
  • Sexual characteristics
  • Hyperandrogenism signs
  • Pelvic examination
  • Other endocrine signs
  • Syndromic features
  • Anosmia
95
Q

What main investigations should be done for Turners Syndrome?

A
  1. Blood tests
  2. Pregnancy test
  3. Microbiology
  4. Imaging
96
Q

What blood tests should be done for Turners Syndrome?

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
97
Q

How is a pregnancy test done?

A

Urine or serum HCG

98
Q

What microbiology should be done for Turners Syndrome?

A
  1. Urine test

2. Chlamydia swab

99
Q

What imaging should be done for Turners Syndrome?

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

Y2 BRS Endocrinology (9 decks)

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