Primary amenorrhoea

Question 1

Primary amenorrhoea definition

Answer 1

Not starting menstruation by 14 in absence of other secondary sexual characteristics

Not starting by 16 in presence of secondary sexual characteristics

Question 2

Causes of primary amenorrhoea

Answer 2

Hypogonadotropic hypogonadism

Hypergonadotrophic hypogonadism

Imperforate hymen or other structural pathology

Congenital adrenal hyperplasia and androgen insensitivity syndrome

Constitutional delay

Question 3

Hypogonadotropic hypogonadism meaning and causes

Answer 3

Deficiency of LH and FSH due to abnormal functioning of the hypothalamus or pituitary

Causes include:

• Excessive dieting, exercise or weight loss
• Chronic illness - e.g. CF, IBD
• Damage to the hypothalamus or pituitary, for example, by radiotherapy or surgery for cancer
• Endocrine disorders such as growth hormone deficiency, hypothyroidism, Cushing’s or hyperprolactinaemia
• Kallmans syndrome - a genetic condition which can also cause loss of smell

Question 4

Hypergonadotropic hypogonadism meaning and causes

Answer 4

Ovaries fail to respond to stimulation from the gonadotrophins (LH/FSH) and without the negative feedback from oestrogen AP continues to produce LH/FSH causing high levels

Causes:

• Damage to the gonads - torsion, cancer or infections e.g. mumps
• Congenital absence of the ovaries
• Turners syndrome (XO)

Question 5

Investigations in primary amenorrhoea

Answer 5

Bloods:

• FSH and LH
• TFTs
• Insulin like growth factor 1 (screening test for GH deficiency)
• Prolactin (high in hyperprolactinaemia)
• Testosterone (raised in PCOS, androgen insensitivity syndrome)

Full blood count and ferritin for anaemia
U&E for chronic kidney disease
Anti-TTG or anti-EMA antibodies for coeliac disease

Imaging:

• Pelvic ultrasound - to assess ovaries and other pelvic organs
• MRI brain - to look for pituitary pathology and olfactory bulbs (in Kallmans)

Could do genetic testing e.g. for Kallman’s and Turner’s

Question 6

Management of primary amenorrhoea

Answer 6

CNS cause of amenorrhoea - with pulsatile GnRH can be used to induce ovulation and menstruation if desire to try for a child. Where pregnancy is not wanted, replacement sex hormones in the form of COCP may be used to induce regular menstruation and prevent the symptoms of oestrogen deficiency.

Ovarian cause of amenorrhoea -
COCP - to induce regular menstruation and prevent symptoms of oestrogen deficiency

Surgery for structural pathology

Question 7

Anatomical causes/ structural pathology

Answer 7

Imperforate hymen
Transverse septum
Rokitansky syndrome
Androgen insensitivity syndrome
Ashermans syndrome