Aetiology of primary amenorrhoea

From a clinical aspect it is probably best to classify the aetiologies of primary amenorrhoea based on the presence or absence of secondary sexual characteristics. This will be used as the basis of a classification system (Table 38.1), and finally there is a group of patients in whom there is heterosexual development.

Table 38.1 Classification of primary amenorrhoea

Secondary sexual characteristics normal Imperforate hymen Transverse vaginal septum Absent vagina and functioning uterus Absent vagina and non-functioning uterus XY female - androgen insensitivity Resistant ovary syndrome Constitutional delay

Secondary sexual characteristics absent Normal stature

Hypogonadotrophic hypogonadism Congenital

Isolated gonodotrophin-releasing hormone deficiency Olfactogenital syndrome

Acquired Weight loss/anorexia Excessive exercise Hyperprolactinaemia Hypergonadotrophic hypogonadism Gonadal agenesis XX agenesis XX or XY agenesis Gonadal dysgenesis Turner mosaic

Other X deletions or mosaics XY enzymatic failure Ovarian failure Galactosaemia Short stature

Hypogonadotrophic hypogonadism

Congenital Hydrocephalus

Acquired Trauma

Empty sella syndrome Tumours

Hypergonadotrophic hypogonadism

Turner syndrome

Other X deletions or mosaics

Heterosexual development Congenital adrenal hyperplasia Androgen-secreting tumour 5a-Reductase deficiency Partial androgen receptor deficiency True hermaphrodite Absent Müllerian inhibitor

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