Hypogonadism (female)

Question 1

Define hypogonadism (female)

Answer 1

Characterised by impairment of ovarian function

Question 2

Aetiology of primary hypogonadism (female)

2

Answer 2

Gonadal dysgenesis - due to chromosomal abnormalities (e.g. Turner’s syndrome)
Gonadal damage - e.g. autoimmune, chemotherapy, radiotherapy

Question 3

Aetiology of secondary hypogonadism (female)

4

Answer 3

Functional - e.g. stress, weight loss, excessive exercise, eating disorders
Pituitary/hypothalamic tumours & infiltrative lesions - e.g. pituitary adenomas, haemochromatosis
Hyperprolactinaemia - e.g. due to prolactinoma
Congenital GnRH deficiency - Kallmann’s syndrome, idiopathic

Question 4

Epidemiology of hypogonadism (female)

2

Answer 4

Secondary hypogonadism is more common cause of anovulation/amenorrhoea
Turner’s syndrome occurs in about 1.5% of conceptions

Question 5

Presenting symptoms of hypogonadism (female)

7

Answer 5

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

Symptoms of underlying cause

Question 6

Signs of hypogonadism (female) on physical examination

6 groups

Answer 6

Pre-pubertal hypogonadism
Post-pubertal hypogonadism
Hypothalamic/pituitary disease
Kallmann's syndrome
Turner's syndrome
Autoimmune primary ovarian failure

Question 7

Signs of hypogonadism (female) on physical examination - pre pubertal
(2)

Answer 7

Delayed puberty (primary amenorrhoea, absent breast development, no secondary sexual characteristics)
Eunuchoid (long legs, arm span greater than height)

Question 8

Signs of hypogonadism (female) on physical examination - post pubertal
(3)

Answer 8

Regression of secondary sexual characteristics (e.g. loss of secondary sexual hair, breast atrophy)
Perioral & periorbital fine facial wrinkles
Signs of underlying cause

Question 9

Signs of hypogonadism (female) on physical examination - hypothalamic/pituitary disease

Answer 9

Visual field defects

Question 10

Signs of hypogonadism (female) on physical examination - Kallmann’s syndrome

Answer 10

Anosmia

Question 11

Signs of hypogonadism (female) on physical examination - Turner’s syndrome
(7)

Answer 11

Short stature
Low posterior hair line
High arched palate
Widely spaced nipples
Wide carrying angle
Short 4th & 5th metacarpals 
Congenital lymphedema

Question 12

Signs of hypogonadism (female) on physical examination - autoimmune primary ovarian failure

Answer 12

May be signs of other autoimmune diseases (e.g. vitiligo)

Question 13

Investigations for hypogonadism (female)

4 groups

Answer 13

General
Primary hypogonadism
Secondary hypogonadism
Associated conditions

Question 14

Investigations for hypogonadism (female) - general

3

Answer 14

Low serum oestradiol
Serum FSH/LH
primary hypogonadism = HIGH
secondary hypogonadism = LOW
Screen for FMR1 gene in patients w/ unexplained premature ovarian failure

Question 15

Investigations for primary hypogonadism (female)

2

Answer 15

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

Question 16

Investigations for secondary hypogonadism (female)

5

Answer 16

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

Question 17

Investigations for hypogonadism (female) - associated conditions
(2)

Answer 17

Turner’s syndrome - periodic echocardiography, renal US

Autoimmune oophoritis - check autoimmune adrenal insufficiency