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Ask each partner for their age and take a general medical history, including family history, medication and drug use. Enquire about previous pregnancies in current or past relationships and outcomes.
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Sexual function (problems with erections, ejaculation)
Age of puberty
Previous testicular problems/injury (e.g. orchitis, trauma, undescended testes, torsion)
Past history (PH) of STIs
PH of mumps
PH of urethral problems
Genitourinary surgery (e.g. hernia, vasectomy reversal)
Occupational history (exposure to heat, pesticides, herbicides)
Medications and drug use:
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Onset of menarche
Menstrual history
Symptoms of ovulation (cervical mucus changes, mittelschmerz)
Symptoms of endometriosis (dysmenorrhoea, pelvic pain, dyspareunia)
PH of STIs and pelvic infection
Previous IUCD use
PH of intra-abdominal surgery (e.g. appendicitis, ovarian cyst)
PH of genitourinary surgery
Medications and drug use:
– alcohol
– smoking, especially >20/day
– past contraception, especially depot provera
– anabolic steroids
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Time trying to conceive
Frequency and timing of intercourse
Attitudes to pregnancy and subfertility
Expectations for the future
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A general assessment of body habitus, BMI, general health and secondary sexual characteristics should be noted in both man and woman.
++
++
Secondary sexual characteristics
Thyroid status
Note skin for acne, hirsutism
Vaginal and pelvic examination:
++
These are usually performed after referral but the family doctor should organise initial investigations to assess where to refer (e.g. andrologist, endocrinologist, gynaecologist or fertility specialist).
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Initial investigations
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Collection should be made directly into a sterile container 2–3 days after sexual abstinence. If collected at home, semen should be kept at body temperature during transport to the laboratory and examined within 1 hour of collection. A repeat test in 1–3 months is indicated if the first is abnormal.7
++
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Female—ovulation status3
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In most cases, regular menstrual cycles between 26 and 34 days, with appropriate variation in cervical mucus (thin at mid-cycle and thicker in the luteal phase) suggest ovulation is occurring. If ovulatory dysfunction is suspected, the following investigations are appropriate:
++
serum LH, FSH and oestradiol (help identify primary hypothalamic-pituitary failure or dysfunction and primary ovarian disease; see TABLE 115.2)
midluteal phase progesterone (day 21 of 28 day cycle, or 7 days before next expected period); >30 nmol/L can be used to confirm ovulation
androgens (free testosterone, SHBG, free androgen index, 17-OH progesterone)
thyroid function tests
serum prolactin
transvaginal high-resolution ultrasound (day 5–9 of cycle) for ‘antral follicule count’—allows assessment of ovarian reserve, ovarian pathology or uterine structural abnormalities.
anti-Mullerian hormone (AMH)—a predictor of ovarian function and reserve. Not essential although useful. Interpretation may be complicated and require specialist input.
++
+++
Further investigations3
++
If azoospermia or severe oligospermia (usually under specialist guidance):
++
serum FSH level (if 2.5 times normal, indicates irreversible testicular failure)
LH
testosterone
prolactin
antisperm antibodies (in serum, semen or directly bound to sperm)
sperm function tests
genetic testing:
ultrasound of the scrotum +/− urogenital tract
post-ejaculatory urine analsis (for retrograde ejaculation)
++
routine preconception screening
thyroid antibodies (TPO antibody-positive females have a higher incidence of subfertility)
chlamydia (first-pass urine NAAT) if indicated
consider genetic testing for fragile X gene mutation, cystic fibrosis and spinal muscular atrophy
++
Specialised investigations:
++
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Management principles
++
Both partners should be involved in management decisions since fertility is a couple’s issue.
All couples should be encouraged to optimise
their general health through lifestyle changes such as weight optimisation, exercise, smoking cessation and minimised alcohol intake.
Infertility can cause considerable emotional stress, including the taking or placing of blame by a partner and subsequent feelings of guilt. Sensitive and empathetic support is essential. This may include marital counselling.
++
Couples may require the following education on timing of intercourse:
++
it is ideal to have intercourse every 2 days in the week before the expected time of ovulation3
ova can survive up to 24 hours and sperm up to 5 days within the female genital tract
ovulation generally occurs 14 days before menstruation
ovulation may be identified with cervical mucus changes, when mucus becomes more slippery or like egg white
the chance of fertilisation is best on the day of ovulation or during the time of the slippery sensation
2 days after ovulation, basal temperature rises slightly, around ¼–½ a degree
recording temperature every morning for a few months can show if ovulation is regular and help predict the day of ovulation
many women find fertility tracking websites or apps a useful aid
urine-based ovulation detection kits are available but can be difficult to interpret
for women with irregular periods, ovulation tracking may be of value through fertility laboratories in the treatment setting
++
‘Fertility awareness practitioners’ are available for couples interested in pursuing natural fertility methodology as an alternative to assisted reproductive technology.
+++
Polycystic ovarian syndrome4
++
PCOS is a common condition, present in 12–18% of women of reproductive age.11 It should be noted that it is not the same as polycystic ovaries, which occur in approximately 25% of asymptomatic, normal women.12
++
Patients may present with the following:
++
ovarian dysfunction—subfertility, oligomenorrhoea, anovulation
androgen excess—acne, hirsutism and malepattern balding
metabolic features—upper truncal obesity, impaired glucose tolerance, dyslipidaemia, diabetes
psychological symptoms—anxiety, depression, eating disorders
++
Polycystic ovary syndrome is typically associated with insulin resistance. Insulin resistance and hyperinsulinaemia drive ovarian androgen production and suppress sex hormone–binding globulin (SHBG), leading to greater bioavailability of androgens. There is a strong hereditary basis and it is more common in Aboriginal and Torres Strait Islander and South-East Asian women. The onset can be triggered by environmental factors, particularly weight gain.
+++
Diagnosis/investigations
++
Diagnosis of PCOS is made using the Rotterdam criteria, in which 2 of the following criteria are required:
++
++
Note: In young women, menstrual cycles may take up to 2 years to regulate after menarche. Irregular cycles persisting into the third year post-menarche should be investigated for PCOS.
++
Ultrasound is not reliable in the diagnosis of polycystic ovaries in adolescent and young women. Up to 70% of young women may have polycystic ovaries on ultrasound.
+++
Suggested screening for all women with PCOS
++
+++
Management strategies
++
+++
For women with subfertility
++
screening and treat if necessary:
primary treatment of insulin resistance:
ovulation induction—clomiphene/letrozole/gonadotrophins
laparoscopic ovarian surgery/drilling (second-line after medical treatment)
assisted reproductive technology (ART)