Summary
At birth, atypical genitalia may indicate a difference of sex development, requiring referral to a specialised team. The hypothalamus-pituitary-gonadal axis is transiently activated after birth (
minipuberty) and becomes quiescent during childhood. At this age, vulvar itching and vaginal discharge are the most common gynaecological complaints. Puberty normally starts between age 8–13 years but can be precocious, delayed, absent or its course may be abnormal. In precocious puberty underlying central nervous system disorders should be ruled out. Absent or delayed puberty may be caused by hypogonadotropic or hypergonadotropic hypogonadism. Primary amenorrhoea may be present in these conditions but can also result from absence of a uterus and/or vagina or outflow tract obstruction. Children and adolescents may present with gender dysphoria, which, if medical treatment is requested, requires evaluation by a multidisciplinary team. In situations where future fertility may be affected, individuals should be counselled on fertility preservation options. Transition to adult services deserves careful preparation.