Investigation and treatment of primary amenorrhoea

Primary amenorrhoea is most commonly caused by constitutional delay or genetic or structural factors. However, any cause of secondary amenorrhoea can also present before menarche and lead to primary amenorrhoea. This review addresses the path of normal puberty and the causes and appropriate investigations and treatments of primary amenorrhoea in a systematic manner. The importance of considering the oestrogen state of the woman is stressed to ensure that, where necessary, replacement therapy is given to maximize bone mass and reduce the life-time risk of fractures.