Introduction

Amenorrhoea is the absence of menstruation, either temporarily or permanently. It may occur as a normal physiological condition, such as before puberty, during pregnancy, lactation or the menopause, or as a feature of a systemic or gynaecological disorder.

Primary amenorrhoea

The failure to menstruate by the age of 16 years in the presence of normal secondary sexual development, or 14 years in the absence of secondary sexual characteristics, warrants investigation. This distinction helps to differentiate reproductive tract anomalies from gonadal quiescence and gonadal failure (see earlier chapters). Primary amenorrhoea may be a result of congenital abnormalities in the development of ovaries, genital tract or external genitalia (see Chs. 20-24) or a disturbance of the normal endocrinological events of puberty (Ch. 18). Most of the causes of secondary amenorrhoea can also cause primary amenorrhoea if they occur before the menarche. Delayed puberty is often constitutional, but it is important to exclude primary ovarian failure or hypothalamic/pituitary dysfunction. Overall, it is estimated that endocrine disorders account for approximately 40% of primary amenorrhoea, the remaining 60% being the result of developmental abnormalities (Table 26.1).

Chapters 19 and 20–24 describe the causes of primary amenorrhoea other than those described below under secondary amenorrhoea. Many of these conditions will have presented either at birth or during childhood. Management should be in a specialized clinic that can provide a multidisciplinary approach to care.