Functional hypothalamic amenorrhoea: a diagnosis of exclusion

Functional hypothalamic amenorrhoea is common but often misdiagnosed, risking inappropriate management and compromised patient education and counselling

Secondary amenorrhoea before the age of 45 years, not due to pregnancy or lactation, lasting over 3 months in a previously eumenorrhoeic woman, or 6 months if menses have been irregular,1 is a cause for concern. Prolonged oestrogen deficiency due to amenorrhoea in reproductive aged women is associated with bone loss, increasing fracture susceptibility,2 dyslipidaemia3 and endothelial dysfunction, potentially increasing cardiovascular disease risk.4,5 Additionally, there is the psychological impact of anxiety about infertility and, conversely, possible unexpected ovulation and undesired pregnancy.6 Women with prolonged amenorrhoea experience more sexual dysfunction, depression and anxiety compared with women with eumenorrhoea.7 In this article, we summarise the available literature on the diagnosis and management of functional hypothalamic amenorrhoea (FHA). We searched PubMed, Google Scholar and the Cochrane Library for publications pertaining to the diagnosis and management of FHA from inception to June 2021. A hypothetical case study (Box 1) illustrates how the available literature can guide clinical practice.