An 18-year-old woman presents with an absence of periods for 6 months. This has occurred twice before in the past but on both occasions menstruation returned so she was not too concerned. Her periods started at the age of 12 years and were initially regular. She has no medical history of note and denies any medication. She is currently in her first year at university. She runs most days and reports a ‘healthy’ diet avoiding carbohydrate foods and meat. She is the oldest of three siblings and her parents separated when she was 12 years. She has minimal contact with her father and lives mainly with her mother who she says she gets on well with. She has had a boyfriend in the past but has veered away from any sexual relationships.
The woman is tall and thin with a body mass index (BMI) of 15.5 kg/m2. There is evidence of fine downy hair growth on her arms. Heart rate is 86/min and blood pressure 100/65 mmHg. Abdominal examination reveals no scars or masses, and genital examin- ation is not performed.
· What is the diagnosis?
· How would you further investigate and manage this woman?
The woman has evidence of hypogonadotrophic hypogonadism – she has low oestradiol levels associated with low gonadotrophin stimulation from the anterior pituitary. This may be due to various pituitary or hypothalamic causes, but in this case clearly relates to anorexia nervosa and possibly excessive exercise. The raised prolactin is consistent with stress and does not need to be investigated further. At a BMI below 18 kg/m2, menstru- ation tends to cease, returning once the BMI increases again.
The previous episodes of amenorrhoea probably occurred when her dietary intake was very low and it may be that starting at university may have increased her stress levels with the consequence of worsening her anorexia.
· Full blood count, liver and renal function should all be monitored as these are affected in severe disease.
· A bone scan should be arranged to check for bone density – hypo-oestrogenism as a result of anorexia is likely to induce early-onset osteoporosis and fractures.
· Pyschological assessment is also important to guide appropriate treatment.
Encouraging the woman to eat a more normal diet and to avoid exercising is the ideal management, but anorexia is a chronic disease that is often refractory to treatment. Explanation that her periods will return if she increases her BMI may possibly encourage her to put on weight.
The combined oral contraceptive pill should be prescribed in the meantime, which will prevent osteoporosis and bring on periods, albeit pharmacologically induced.
Referral to a specialist eating disorders unit is vital in addressing the long-term problem for this woman. Commonly, eating disorders arise out of childhood difficulties and family or group therapy should be considered.
If the investigations suggest renal or hepatic impairment then inpatient management is likely to be necessary.