Primary amenorrhoea: investigation and treatment

Abstract 

Primary amenorrhoea is a symptom with an extensive list of underlying causes, the majority of which are rare. By definition it should present in adolescence, although some conditions diagnosed in childhood may anticipate the failure of onset of menstruation. Many causes of secondary amenorrhoea can also present with primary amenorrhoea if they arise sufficiently early.

This review addresses some of the issues that should be taken into account in the care and evaluation of the adolescent gynaecology patient and her parents, which, although increasingly recognised as a subspecialist area of interest, should be feasible to accommodate within the provision of a general gynaecology service.

A systematic, compartment-based approach will cover the commoner causes of primary amenorrhoea and recommend a pragmatic but cost-effective approach to achieving the correct diagnosis. Treatment must be directed at the specific cause but will often have wider implications for life-long well-being, including such areas as weight management, hormone replacement, sexual health and fertility.

Keywords: adolescent gynaecology, hyperprolactinaemia, hypothalamic amenorrhoea, Müllerian agenesis, ovarian failure, polycystic ovary syndrome, primary amenorrhoea