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At birth atypical genitalia may indicate a disorder/difference of sex development, requiring referral to a specialized 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 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.
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Activation of the hypothalamus-pituitary-gonadal axis in the first months of life
The onset of breast development
The first spontaneous menstrual bleeding
Period in which transition from childhood to adulthood and biological changes that lead to reproductive capacity take place.
The appearance of pubic and/or axillary hair
Pubertal reactivation of the hypothalamic-pituitary-gonadal axis
(Re)activation of the adrenal zona reticularis to produce androgens
Disorder/difference of sex development (DSD)
Congenital conditions in which chromosomal, gonadal or anatomical sex is atypical
Genitalia that are neither typically female nor typically male
Central precocious puberty
Onset of breast development before age 8 years due to premature activation of the hypothalamus-pituitary-gonadal axis
The absence of breast development by age 13 years
Reduced gonadal sex steroid production due to insufficient secretion of GnRH and/or gonadotropins
Reduced gonadal sex steroid production due to an impaired response to gonadotropins
Constitutional delay of growth and puberty
Late but spontaneous puberty before age 18 years, often familial
Failure to reach menarche by age 16 years or within five years after the onset of breast development
Menstruation blood accumulates in the vagina above the imperforate hymen
Menstruation blood accumulates in the uterus/fallopian tubes
One’s internal, deeply held sense of one’s gender
The distress and unease experienced if gender identity and sex assigned at birth are not completely congruent
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- Paediatric and adolescent gynaecology
Dr Sabine E. Hannema
Dr Marianne J. ten Kate-Booij
- Bohn Stafleu van Loghum