Primary amenorrheas: normogonadotropic, hypogonadotropic, hypergonadotropic

Menarche is a critical cue of female sexual and reproductive health. Therefore, the absence of menses at appropriate age needs a competent evaluation. The article outlines the various pathogenesis behind the symptom of primary amenorrhea, starting from situations not related to endocrine disorders such as outflow tract obstruction or uterine underdevelopment. The diagnostic assessment in situations of hypogonadism is often a challenge for the clinician and may require successive rounds of investigation, especially in the differential diagnosis between pubertal delay and hypogonadotropic hypogonadism. An impaired development of the gonads is, for females, one of the leading causes of primary amenorrhea: understanding the genetics behind gonadal dysgenesis improves the ongoing care of the girl and the prediction of associated medical problems. Therapeutic options for these different situations will be the topic of a following review.

Keywords: primary amenorrhoea; constitutional pubertal delay, hypogonadotropic hypogonadism; functional hypogonadism; premature ovarian deficiency.