Primary Infertility Case Study

A 29-year-old woman and her partner are seen in the gynaecology outpatient clinic with primary infertility. They stopped using condoms 2 years ago and have had regular intercourse since then. The partner has no previous medical history of note.  He works as a manager in a hotel.
The woman also has no specific previous medical history except for an appendectomy aged 12 years. Her periods occur every 31 to 46 days and can be heavy at times but not painful. There is no intermenstrual or postcoital bleeding. She has always had normal smears and has never had any sexually transmitted infections. She takes no medications,

Examination
On examination her body mass index (BMI) is 29 kg/m2. She has slight acne on her face and her chest. There are no abdominal scars and the abdomen is non-tender with no masses palpable.
Speculum and bimanual examination are normal.

Investigations
 - Day 3 luteinizing hormone (LH) = 6.2 IU/L (Normal on day 2-5 = 0.5–14.5 IU/L)
 - Day 3 follicle-stimulating hormone = 3.1 IU/L (Normal on day 2-5 =1–11 IU/L)
 - Day 21 progesterone = 15 nmol/L (>30nmol/L if ovulation occurs)
 - A transvaginal ultrasound scan shows polycystic ovaries.

Questions
• What is the diagnosis?
• How would you further investigate and manage this woman?

Answers And Discussion



Diagnosis: The diagnosis is of anovulatory infertility due to polycystic ovarian syndrome (PCOS).

Anovulation is shown by the progesterone level below 30 nmol/L, and PCOS is suggested by several features including increased BMI, acne, oligomenorrhoea, polycystic ovaries on transvaginal ultrasound examination, increased androgen levels and increased LH.

‘Polycystic ovaries’ (a morphological description of enlarged ovaries with an increased number of follicles and dense stroma) is present in up to 25 per cent of normal women.
The diagnosis of PCOS is made on any combination of characteristic clinical, biochemical and ultrasound features.
PCOS is one of the commonest causes of infertility. However, up to 30 per cent of subfertile couples have a multifactorial cause for their problem.

Investigations
Complete investigation of both partners is essential prior to treating the PCOS. This includes:
• semen analysis
• tubal patency test (hysterosalpingogram is usually sufficient)
• laparoscopy and dye test if pelvic inflammatory disease, adhesions or endometriosis are suggested from the history.
• Testing for rubella is also necessary.

Management

• It is recommended to start folic acid if this is not already taken. 
• Other general advice includes healthy diet and ensuring regular intercourse (preferably 2–3 times per week). 
• The woman should aim to reduce weight as this commonly help in ovulation in high-BMI women with PCOS.

Treatment of anovulation
Clomifene citrate is the main treatment to induce ovulation. The woman should be given 50 mg to take on day 2–6 of the menstrual cycle, with day 21 progesterone checked to confirm ovulation. If ovulation occurs, then the clomifene is continued for up to six cycles unless pregnancy occurs. If ovulation is not confirmed then the dose is increased to 100 mg.
It is not recommended to take clomifene for more than 6 months, due to a theoretical increased risk of ovarian carcinoma. If clomifene fails, then further ovulation induction agents and IVF need to be considered.

Key Points In This Case:
• Irregular periods are commonly due to polycystic ovarian syndrome.
• The syndrome is diagnosed on a combination of clinical, biochemical and ultrasound features.
• Many cases of subfertility are multifactorial or involve both partners, so full investigation of both is important prior to treatment.