Hypogonadism (female)

Question 1

Definition

Answer 1

Characterised by impairment of ovarian function

Question 2

Aetiology/Risk factors (primary)

Answer 2

· Primary Hypogonadism

o Gonadal dysgenesis (due to chromosomal abnormalities e.g. Turner’s syndrome)

o Gonadal damage (e.g. autoimmune, chemotherapy, radiotherapy)

Question 3

Aetiology/Risk factors (secondary)

Answer 3

· Secondary Hypogonadism

o Functional (e.g. stress, weight loss, excessive exercise, eating disorders)

o Pituitary/Hypothalamic Tumours and Infiltrative Lesions (e.g. pituitary adenomas, haemochromatosis)

o Hyperprolactinaemia (e.g. due to prolactinoma)

o Congenital GnRH deficiency: Kallmann’s syndrome, idiopathic

Question 4

Epidemiology

Answer 4

· Secondary hypogonadism is a more common cause of anovulation/amenorrhoea

· Turner’s syndrome occurs in around 1.5% of conceptions

Question 5

Presenting symptoms

Answer 5

· Symptoms of oestrogen deficiency:
o Night sweats
o Hot flushing
o Vaginal dryness
o Dyspareunia
o Decreased libido
o Infertility

· Symptoms of the underlying cause

Question 6

Signs on physical examination (pre-pubertal)

Answer 6

· PRE-Pubertal Hypogonadism

o Delayed puberty (primary amenorrhoea, absent breast development, no secondary sexual characteristics)

o Eunuchoid (long legs, arm span greater than height)

Question 7

Signs on physical examination (post-pubertal)

Answer 7

· POST-Pubertal Hypogonadism

o Regression of secondary sexual characteristics (e.g. loss of secondary sexual hair, breast atrophy)

o Perioral and periorbital fine facial wrinkles

o Signs of underlying cause

Question 8

Signs on physical examination (Turner’s syndrome)

Answer 8

· Turner’s syndrome

o Short statue
o Low posterior hair line
o High arched palate
o Widely spaced nipples
o Wide carrying angle
o Short fourth and fifth metacarpals
o Congenital lymphoedema

Question 9

Signs on physical examination (other)

Answer 9

· Hypothalamic/Pituitary disease - visual field defects

· Kallmann’s syndrome - anosmia

· Autoimmune primary ovarian failure - there may be signs of other autoimmune diseases (e.g. vitiligo)

Question 10

Investigations (general)

Answer 10

· Low serum oestradiol

· Serum FSH/LH
o Primary hypogonadism = HIGH
o Secondary hypogonadism = LOW

Question 11

Investigations (primary)

Answer 11

· Primary Hypogonadism Investigations

o Karyotype (look for chromosomal abnormalities)
o Pelvic imaging (US or MRI) - performed in primary amenorrhoea to check for structural defects (e.g. androgen insensitivity)

· Screen for FMR1 gene in patients with unexplained pre-mature ovarian failure

Question 12

Investigations (secondary)

Answer 12

· Secondary Hypogonadism Investigations

o Pituitary function tests (e.g. 9 am cortisol, TFTs, prolactin)
o Visual field testing
o Hypothalamic-pituitary MRI
o Smell tests for anosmia
o Serum transferrin saturation (check for haemochromatosis)

Question 13

Investigations (associated conditions)

Answer 13

· Investigating associated conditions

o Turner’s Syndrome - periodic echocardiography, renal US

o Autoimmune Oophoritis - check autoimmune adrenal insufficiency