Amenorrhoea

Question 1

Definition of primary amenorrhoea

Answer 1

Delayed menarche

• failure to menstruate by the age of 16 years or later
• menstruation has never occurred spontaneously

Question 2

Definition of secondary amenorrhoea

Answer 2

• absence of menstruation when menses have previously occurred
• even if the patient has only had one spontaneous menstrual bleed

Question 3

Definition of galactorrhoea

Answer 3

Inappropriate or non-peurperal lactation

Question 4

When to investigate amenorrhoea

Answer 4

• 14 years old with no secondary sex characteristics (delayed puberty)
• 16 years old with normal growth and development of secondary sex characteristics (delayed menarche)
• amenorrhoea for time of 3 cycles (3-6 months)
• signs of hyperandrogenism
• dysmorphic features (regardless of duration of menstrual dysfunction)
• ambiguous genitalia (urgent)

Question 5

Aetiologies of amenorrhoea

Answer 5

• physiological
• end organ defects
• gonadal causes
• pituitary causes
• hypothalamus and CNS
• thyroid disorders
• adrenal
• metabolic causes
• medication

Question 6

Physiological causes of amenorrhoea

Answer 6

• pregnancy
• puerperium and lactation
• perimenarche
• postmenopausal

Question 7

End organ defects causing amenorrhoea

Answer 7

• congenital anatomical abnormalities (Mullerian agenesis/ anomalies)
• disorders of sex development (sex chromosome DSD, 46XY DSD, 46XX DSD)
• acquired abnormalities

Question 8

Gonadal causes of amenorrhoea

Answer 8

• aberrant function/ dysfunction
• primary ovarian insufficiency
• DSD
• functional tumours of the ovary

Question 9

Pituitary causes of amenorrhoea

Answer 9

• hyperprolactinaemia
• hypopituitarism secondary to cellular or anatomic defects
• disruption of hypothalamic-pituitary connections
• pituitary tumours

Question 10

Hypothalamus and CNS causes of amenorrhoea

Answer 10

• psycho-neuroendocrine
• GnRH deficiency
• CNS tumours

Question 11

Adrenal causes of amenorrhoea

Answer 11

• congenital adrenal hyperplasia
• Cushing’s syndrome
• Addison’s disease

Question 12

Metabolic causes of amenorrhoea

Answer 12

• cystic fibrosis
• vegans
• diabetes mellitus
• liver disease

Question 13

Causes of primary amenorrhoea

Answer 13

• errors in genital differentiation
• errors in gonaductal development
• errors in gonadal development
• hypothalamic-pituitary disturbances
• follicles unresponsive to gonadotrophins

Question 14

Baseline investigations for amenorrhoea

Answer 14

• pregnancy test
• chromosome analysis
• FSH + LH
• prolactin
• TSH
• testosterone and DHEAS
• 17a OH progesterone
• progesterone withdrawal

Question 15

Outcomes of FSH + LH testing

Answer 15

• elevated = ovarian failure
• very low = pituitary or hypothalamic dysfunction
• inverse ratio (LH>FSH) = consider PCOS
• normal = investigate