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Y2 BRS Endocrinology > Infertilty > Flashcards

Infertilty Flashcards

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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
What are the treatments of fibroids?
Hormonal (eg continuous OCP, prog, continuous GnRH agonists) | Hysterectomy
26
Describe the HPG (hypothalamic-pituitary-gonadal) axis.
1. Kisspeptin neurones 2. GnRH neurones Hypophyseal-portal circulation 3. Gondatroph -> LH and FSH Systemic cirulcaiton 4. Testosterone/oestrogen (Also, progesterone/activin/inhibin)
27
What is hypogonadism from an issue in the hypothalamus called?
(not measurable) | Hypogonadotrophic hypogonadism
28
What are the hormone levels from hypogonadism from an issue in the hypothalamus called?
↓GnRH ↓LH ↓FSH ↓T
29
What is hypogonadism from an issue in the anterior pituitary gland called?
Hypogonadotrophic hypogonadism
30
What is hypogonadism from an issue in the gonads called?
Hypergonadotrophic hypogonadism
31
What are the hormone levels like in hypogonadotrophic hypogonadism?
↓LH ↓FSH | ↓T
32
What are the hormone levels like in hypergonadotropic hypogonadism?
↑LH ↑FSH | ↓T
33
What issues in the hypothalamus lead to male infertility?
1. Congenital Hypogonadotrophic Hypogonadism - Anosmic (Kallmann Syndrome) - or Normosmic 2. Acquired Hypogonadotrophic Hypogonadism - Low BMI - XS exercise - Stress 3. Hyperprolactinaemia
34
What issues in the anterior pituitary gland lead to male infertility?
Hypopituitarism - Tumour - Infiltration - Apoplexy - Surgery - Radiation
35
What issues in the gonads lead to male infertility?
1. Congenital Primary Hypogonadism - Klinefelters (47XXY) 2. Acquired Primary Hypogonadism - Cryptorchidism - Trauma - Chemo - Radiation
36
What issues outside the HPG axis lead to male infertility?
1. Androgen Receptor Deficiency (rare) | 2. Hyper/Hypothyroidism (reduced bioavailable testosterone)
37
What are the hormones like in an hyperprolactinaemia?
LH/FSH down | T down
38
What are the hormones likes in primary testicular failure e.g. Klinefelter's syndrome?
LH/FSH up | T down
39
What is Kallmann syndrome?
Failure of migration of GnRH neurons with olfactory fibres
40
What are hormone levels like in Kallmann syndrome?
Hypogonadotrophic hypogonadism ↓GnRH ↓LH ↓FSH ↓T
41
What are the symptoms of Kallmann syndrome?
Anosmia ``` REPRODUCTIVE FEATURES: Cryptorchidism Failure of puberty -Lack of testicle dvlpt -Micropenis -Primary amenorrhoea Infertility ```
42
What are the consequences of a hyperprolactinaemia?
1. Prolactin binds to prolactin receptors on kisspeptin neurons in hypothalamus 2. Inhibits kisspeptin release 3. Decreases downstream GnRH/LH/FSH/T/Oest
43
What are the symptoms of a hyperprolactinaemia?
-Oligo (>35d menses) or amenorrhoea (3-6m no menses) -Low libido (and other hypogonadal symptoms) -Infertility -Osteoporosis
44
What are the treatments for a hyperprolactinaemia?
- Dopamine agonist (Cabergoline) | - Surgery/DXT
45
What are some sex chromosome disorders?
XXY Klinefelter's Syndrome XYY Syndrome XXX Triple X Syndrome X0 Turner Syndrome Fragile X Syndrome
46
What is the karyotype for Klinefelter's Syndrome?
XXY
47
What is the karyotype for Turner Syndrome?
X0
48
What are the symptoms of Klinefelter's Syndrome?
- 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
What history is asked for male inferility?
-Duration -Previous children -Pubertal milestones -Associated symptoms (eg. T deficiency, PRL symptoms, CHH features) -Medical & surgical history -Family history -Social history -Medications/drugs
50
What examinations are done for male infertility?
- BMI - Sexual characteristics - Testicular volume - Epididymal hardness - Presence of vas deferens - Other endocrine signs - Syndromic features - Anosmia
51
What are the main investigations done for male infertility?
1. Semen analysis 2. Blood tests 3. Microbiology 4. Imaging
52
What is azospermia?
No sperm
53
What is the term for no sperm?
Azospermia
54
What is oligospermia?
Reduced sperm
55
What is the term for reduced sperm?
Oligospermia
56
What blood tests are done for male infertility?
- LH, FSH, PRL - Morning Fasting Testosterone - Sex Hormone Binding Globulin (SHBG) - Albumin, Iron studies - Also Pituitary/Thyroid profile - Karyotyping
57
What microbiology is done for male infertility?
- Urine test | - Chlamydia swab
58
What imaging is done for male infertility?
- Scrotal US/Doppler | - MRI pituitary
59
When is MRI pituitary used to investigate male infertility?
if low LH/FSH or high PRL
60
When is scrotal US/Doppler used to investigate male infertility?
- For variocoele/obstruction | - Testicular volume
61
What are general lifestyle treatments for male infertility?
- Optimise BMI - Smoking cessation - Alcohol reduction/cessation
62
What are specific treatments for male infertiltiy?
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
What is primary amenorrhea?
Later than 16yrs is regarded as abnormal
64
What is secondary amenorrhea?
Common for Periods to be irregular / anovulatory for first 18months Periods start but then stop for at at least 3-6 months
65
What is amenorrhea?
Absence of periods No periods for at least 3-6 months Or up to 3 periods per year
66
What is oligomenorrhea?
Few periods Irregular or Infrequent periods >35day cycles Or 4-9 cycles per year.
67
What are the hormone levels like in Premature Ovarian Insufficiency?
LH/FSH up | Oestradiol down
68
What are the symptoms of Premature Ovarian Insufficiency?
Same as menopause
69
What are the causes of Premature Ovarian Insufficiency?
- Autoimmune - Genetic eg Fragile X Syndrome / Turner’s Syndrome - Cancer therapy Radio- / Chemo-therapy in the past
70
What are the hormone levels like in Anorexia Nervosa - Induced Amenorrhea?
All down
71
What issues in the hypothalamus lead to female infertility?
1. Congenital Hypogonadotrophic Hypogonadism - Anosmic (Kallmann Syndrome) - or Normosmic 2. Acquired Hypogonadotrophic Hypogonadism - Low BMI - XS exercise - Stress 3. Hyperprolactinaemia
72
What issues in the anterior pituitary gland lead to female infertility?
Hypopituitarism - Tumour - Infiltration - Apoplexy - Surgery - Radiation
73
What issues in the gonads lead to female infertility?
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
What issues in outside the HPG axis lead to female infertility?
Hyper/hypothyroidism | reduced bioavailability available
75
What is the most common endocrine disorder in women and most common cause of infertility in women?
Polycystic Ovarian Syndrome
76
What is used to diagnose Polycystic Ovarian Syndrome?
Rotterdam PCOS Diagnostic Criteria (2 out of 3)
77
What is Rotterdam PCOS Diagnostic Criteria?
1. Oligo or Anovulation 2. Clinical +/- Biochemical Hyperandrogenism 3. Polycystic Ovaries (US)
78
What is the worst metabolic risk combination in Rotterdam PCOS Diagnostic Criteria?
Oligo or Anovulation | and Clinical +/- Biochemical Hyperandrogenism
79
How is oligo or anovulation assessed?
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
What are the features of clinical hyperandrogenism?
Acne Hirsutism Alopecia
81
How is hirsutism scored?
Ferriman-Gallwey Score
82
How is alopecia scored?
Ludwig Score
83
What are the features of biochemical hyperandrogenism?
Raised androgens | e.g. testosterone
84
How is polycystic ovaries assessed?
≥20 follicles OR ≥10ml either ovary on TVUS (8 MHz)
85
Why should you not use US until 8 years post-menarche for assessing polycystic ovaries?
Due to high incidence of multi-follicular | ovaries at this stage
86
When should you use US for polycystic ovaries?
8 years post-menarche
87
What treatments can be used for irregular menses/amenorrhea in PCOS?
1. Oral contraceptive pill | 2. Metformin
88
What treatments can be used for (PCOS) infertility?
1. Clomiphene 2. Letrozole 3. IVF
89
What treatments can be used for the increased insulin resistance -> impaired glucose homeostasis (T2DM, gestational DM)?
1. Diet and lifestyle | 2. Metformin
90
What treatments can be used for hirsutism in PCOS?
1. Anti-androgens e.g. spironolactone | 2. Creams, waxing, laser
91
What treatments can be used the increased risk of endometrial cancer in PCOS?
1. Oral contraceptive pill | 2. Progesterone courses
92
What are the symptoms of Turners Syndrome?
- 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
What history should be asked for Turners Syndrome?
- 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
What examination should be done for Turners Syndrome?
- BMI - Sexual characteristics - Hyperandrogenism signs - Pelvic examination - Other endocrine signs - Syndromic features - Anosmia
95
What main investigations should be done for Turners Syndrome?
1. Blood tests 2. Pregnancy test 3. Microbiology 4. Imaging
96
What blood tests should be done for Turners Syndrome?
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
How is a pregnancy test done?
Urine or serum HCG
98
What microbiology should be done for Turners Syndrome?
1. Urine test | 2. Chlamydia swab
99
What imaging should be done for Turners Syndrome?
1. US (transvaginal) 2. Hysterosalpingogram 3. MRI Pituitary - if low LH/FSH or high PRL

Y2 BRS Endocrinology (9 decks)

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