Infertility Flashcards
What is infertility?
The failure to achieve a clinical pregnancy after >12 months of regular, unprotected sexual intercourse
What is primary infertility?
When the person has NOT had a live birth previously
What is secondary infertility?
When they have had a live birth, conceiving after more than 12 months of regular, unprotected sex
How common is infertility?
1/7 couples affected
half will conceive in the following 12 months
How often do struggling couples seek help?
55%*
* positive association with socioeconomic status
What are the most common causes of infertility in a couple?
- male factor (30%)
- female factor (30%)
- combined male and female factor (30%)
- unknown factor (10%)
What is the impact of infertility on the couple?
- psychological distress to the couple
- no biological child
- impact on the couples wellbeing
- impact on the larger/extended family
- investigations
- treatments (can be costly, often fail)
What is the impact of infertility on society?
- less births
- less tax income
- investigation costs
- treatment costs
What are pre-testicular causes of male infertility?
Congenital and acquired endocrinopathies
- klinefelters
- Y chromosome deletion
- HPG, T, PRL
What are testicular causes of male infertility?
- Congenital
- Cryptorchidism
- Infections (STIs)
- Immunological (Antisperm Abs)
- Vascular (Varicocoele)
- Trauma/surgery
- Toxins (Chemo, DXT, Drugs, Smoking)
What are post-testicular causes of male infertility?
- Congenital (no vans deferens in CF)
- Obstructive Azoospermia
- Erectile Dysfunction (Psychological, Retrograde Ejaculation, Mechanical Impairment)
- Iatrogenic (Vasectomy)
What is Crytorchidism?
Undescended testes (90% in the inguinal canal)
What are the pelvic causes of infertility in women?
(5%)
- endometriosis
- adhesions
What are tubal causes of infertility in women?
(30%) Tubopathy due: - infection - endometriosis - trauma
What are ovarian causes of infertility in women?
(40%)
- anovulation (endo)
- corpus luteum insufficiency
What are the cervical causes of infertility in women?
(5%)
Ineffective sperm penetration due to:
- chronic cervicitis
- immunological (antisperm Ab)
What are the uterine causes of infertility in women?
(10%) Unfavourable endometrium due to: - chronic endometritis (TB) - fibroid - adhesions (synechiae) - congenital malformation
What is endometriosis?
- presence of functioning endometrial tissue outside of the uterus, that responds to Oestrogen
(5% of women)
What are the symptoms of endometriosis?
- increased menstrual pain
- menstrual irregularities
- deep dyspareunia
- infertility
What are the treatments available for endometriosis?
- hormonal (continuous OCP, progesterone)
- laprascopic ablation
- hysterectomy
- bilateral salpingo-oophorectomy
What are fibroids?
Benign tumours of the myometrium, responds to oestrogen
1-20% of per-menopausal women - increases with age
What are the symptoms of fibroids?
Usually asymptomatic
- increased menstrual pain
- menstrual irregularities
- deep dyspareunia
- inferility
What are the treatments available for fibroids?
- Hormonal (continuous OCP, progesterone, continuous GnRH agonists)
- Hysterectomy
What are the secretion patterns of GnRH and LH?
pulsatile
What are the secretion patterns of sex steroids?
diurnal rhythm
What are the clinical presentations of Turners Syndrome?
Hypergonadotrophic
(high LH and FSH)
Hypogonadism
(low testosterone)
How common is Turners Syndrome?
1/2500 live female births
What are the symptoms of Turners Syndrome?
- short
- low hairline
- shield chest
- characteristic facies
- webbed neck
- coarctation of aorta
- poor breast development
- elbow deformity
- underdeveloped reproductive tract
- amenorrhoea
- brown nevi
- short 4th metacarpal
- wide-spaced nipples
What should the history for female infertility include?
Hx of PC: - duration? PMHx: - previous children, breastfeeding? - pubertal milestones - menstrual history (oligomenorrhoea, associated symptoms) - medical and surgical history Family Hx Social Hx
What should be included in an examination for female infertility?
- BMI
- sexual characteristics
- hyperadrenogenism signs
- pelvic exam
- syndromic features
- anosmia
- other endocrine signs
What are the main investigations done for female infertility?
Blood tests Preganancy test (urine or serum HCG) Urine test Chlamydia swab Ultrasound (transvaginal) Hysterosalpingogram MRI pituitary (if low LH/FSH or high PRL)
Which blood tests should be done when concerned about female infertility?
- LH, FSH, PRL
- Oestradiol, Androgens
- Follicular phase 17-OHP
- Mid-luteal progesterone
- Sex hormone binding globulin (SHBG)
- Albumin
- Iron
- Pituitary/thyroid profile
- Karyotyping
How common is PCOS?
- affects 5-15% of women of reproductive age
- family history (frequent)
- most common endocrine disorders in women
- most common cause of infertility in women
Which criteria is used to diagnose PCOS?
The rotterdam PCOS diagnostic criteria (2/3)
What are the 3 factors of an PCOS diagnosis?
- oligo or anovulation
- clinical / biochemical hyperandrogenism
- polycystic ovaries
How to assess oligo or anovulation in possible PCOS?
normally by menstrual frequency (oligomenorrhoea)
- <21 days, or >35 day cycles
- <8/9 cycles/year
- > 90 days for any cycle
anovulation can be proved by: lack of progesterone rise or an Ultrasound
How to assess clinical/biochemical hyperandrogenism with possible PCOS?
Clinical: - acne - hirsutism (Ferriman-Gallwey score) - alopecia (ludwig score) Biochemical - raised androgen (testosterone)
How to assess polycystic ovaries in possible PCOS?
- > 20 follicles
- > 10ml either ovary on TVUS (8MHz)
do NOT use ultrasound until 8 years post menarche due to high incidence of multi-follicular ovaries
Which 2 red flags for PCOs have the worst metabolic risk as a combination?
Oligo/Anovulation, and clinical/biochemical hyperandrogenism
What are the main presentations of PCOS?
- Irregular menses/amenorrhoea
- Infertility
- increased insulin resistance
- impaired glucose homeostasis (T2DM, gestational DM)
- Hirsutism
- Increased risk of endometrial cancer risk (2-6)
How to treat the irregular menses/amenorrhoea caused by PCOS?
Oral contraceptive pill
Metformin
How to treat the infertility caused by PCOS?
- clomiphene
- letrozole
- IVF
How to treat the increased insulin resistance caused by PCOS?
diet and lifestyle
How to treat the hirsutism caused by PCOS?
- cream, waxing, laser
- anti-androgens (spironolactone)
How to manage the increased risk of endometrial cancer caused by PCOS?
progesterone courses
What is the biochemical presentation of congenital hypogonadotrophic hypogonadism in females?
- decreased GnRH
- low FSH, LH (hypogonadotrophic)
- low Oestradiol (hypogonadism)
What is the biochemical presentation of acquired hypogonadotrophic hypogonadism in females?
- decreased GnRH
- low FSH, LH (hypogonadotrophic)
- low Oestradiol (hypogonadism)
What is the biochemical presentation of hyperprolactinaemia in females?
- decreased GnRH
- low FSH, LH (hypogonadotrophic)
- low Oestradiol (hypogonadism)
What is the biochemical presentation of hypopituitarism?
- low LH, FSH (hypogonadotrophic)
- low E2 (hypogonadism)
What is the biochemical presentation of PCOS?
- high LH, FSH
- normal/low E2
What causes congenital hypogonadotrophic hypogonadism?
- Anosmic (Kallmann syndrome)
- Normosmic
What are causes of acquired hypogonadotrophic hypogonadism?
- low BMI
- excess exercise
- stress
What are possible cuases of hypopituitarism?
- tumour
- infiltration
- apoplexy
- surgery
- radiation
What are are possible caused of acquired primary hypogonadism ?
- POI (premature ovarian insufficiency)
- Surgery
- Trauma
- Chemo
- Radiation
What are are possible caused of congenital primary hypogonadism ?
- Turners syndrome
- Premature Ovarian Insufficiency (POI)
What are the symptoms of Premature Ovarian Insufficiency?
- same as menopause
- chance of conception: 20%
How to diagnose POI?
High FSH >25iU/L
x 2, 4 weeks apart
What are the causes of POI?
- autoimmune
- genetic (eg: Turners Syndrome)
- cancer therapy (Radio/Chemo)
What is primary amenorrhoea?
NO period ever
after 16 = abnormal
What is secondary amenorrhoea?
Periods start, bu then storp for at least 6-12 months
normal to be irregular/anovulatory for first 18 months
What is Amenorrhoea?
- no periods for at least 3-6 months
- <3 periods per year
What is Oligo-menorrhoea?
- irregular of infrequent periods
- > 35 day cycles
- 4-9 cycles/year
What are the possible lifestyle changes to treat male infertility?
- optimise BMI
- smoking cessation
- alcohol reduction/cessation
What are the specific treatments available for male infertility?
- dopamine agonist (hyperPRL)
- Gonadotrophin treatment for fertility (will increase testosterone)
- Testosterone (for symptoms, NO fertility necessary)
- Surgery (Micro Testicular sperm extraction)
What should be part of a history for male infertility?
Hx of PC: - duration - associated symptoms (PRL, T deficiency, CHH features) PMHx: - previous children - pubertal milestones - medications and drug Family Hx Social Hx
What is included in an examination for suspected male infertility?
- BMI
- sexual characteristics
- testicular volume
- epididymal hardness
- presence of vans deferens
- syndromic features
- anosmia
- other endocrine signs
What are the main investigations done when male infertility is suspected?
- Urine test
- Blood test
- Chlamydia swab
- Semen analysis
- Scrotal Ultrasound / Doppler (obstruction, testicular volume)
- MRI pituitary (if low LH, FSH or high PRL)
What is involved in a blood test for possible male infertility?
- LH, FSH, PRL
- Morning fasting testosterone
- Sex Hormone Binding Globulin (SHBG)
- Albumin
- Iron
- Pituitary/Thyroid profile
- Karyotyping
What is Azospermia?
No sperm
What is Oligospermia?
Low/Reduced sperm
What is the biochemical presentation of Klinefelters Syndrome?
- High LH, FSH (hypergonadotrophism)
- Low Testosterone (Hypogonadism)
- trisomy
How common is Klinefelters Syndrome?
1/1100 live male births
What are the symptoms of Klinefelters Syndrome?
- Tall stature
- Reduced facial hair
- Breast development
- Female-type pubic hair pattern
- Small penis and testes
- Infertility (3% of cases)
- Impaired IQ (15 points lower)
- Narrow shoulders
- Reduced chest hair
- Wide hips
- Low bone density
What is the impact of hyperprolactinaemia?
- inhibits kisspeptin release, therefore reducing downstream GnRH, LH, FSH, Testosterone and Oestrogen
What can hyperprolactinaemia cause?
- Oligo/Amenorrhoea
- Low libido
- Infertility
- Osteoporosis
What is the treatment for hyperprolactinaemia?
- Dopamine agonist (Cabergoline)
- Surgery/DXT
What is Kallmann syndrome?
The failure of the migration of GnRH neurons with olfactory fibres
What are the symptoms of Kallmann Syndrome?
- Anosmia
- Cryptochidism
- Failure of puberty
- Lack of testicle development
- Micropenis
- Primary Amenorrhoea
- Infertility
What are the biochemical features of Kallmann Syndrome?
- Reduced GnRH
- Low LH, FSH (hypogonadotrophic)
- Low testosterone (hypogonadism)
What are the biochemical characteristics of congenital primary hypogonadism in males?
- high LH and FSH (hypergonadotrophic)
- low testosterone (hypogonadism)
What are the biochemical characteristics of acquired primary hypogonadism in males?
- high LH and FSH (hypergonadotrophic)
- low testosterone (hypogonadism)
What are the causes of acquired primary hypogonadism in males?
- Cryptochidism
- Trauma
- Chemo
- Radiation
What are the causes of congenital primary hypogonadism in males?
- Klinefelters (47XXY)
What are the biochemical characteristics of hypopituitarism in males?
- low LH, FSH (hypogonadotrophic)
- low testosterone (hypogonadism)
What are the causes of hypopituitarism in men?
- tumour
- infiltration
- apoplexy
- surgery
- radiation
What are the biochemical characteristics of congenital hypogonadotrophic hypogonadism in males?
- Reduced GnRH
- Reduced LH, FSH (hypogonadotrophic)
- Reduced testosterone
(hypogonadism)
What are the biochemical characteristics of acquired hypogonadotrophic hypogonadism in males?
- Reduced GnRH
- Reduced LH, FSH (hypogonadotrophic)
- Reduced testosterone
(hypogonadism)
What are the biochemical characteristics of hyperprolactinaemia in males in respect to infertility?
- Reduced GnRH
- Reduced LH, FSH (hypogonadotrophic)
- Reduced testosterone
(hypogonadism)
What causes congenital hypogonadotrophic hypogonadism in males?
- Anosmic (Kallmann Syndrome)
- Normosmic
What causes acquired hypogonadotrophic hypogonadism in males?
- Low BMI
- Excess exercise
- Stress
