Hypogonadism (FEMALE)

Question 1

Define Hypogonadism?

Answer 1

Characterised by impairment of ovarian function

Question 2

What is the aetiology of Primary Hypogonadism?

Answer 2

Gonadal Dysgenesis (due to chromosomal abnormalities e.g. Turner's Sundrome)
Gonadal Damage (e.g. autoimmune, chemotherapy, radiotherapy)

Question 3

What is the aetiology of Secondary Hypogonadism?

Answer 3

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

Question 4

What is the epidemiology of Hypogonadism?

Answer 4

Secondary Hypogonadism is a more common cause of anovulation/amenorrhoea
Turner’s Syndrome occurs in around 1.5% of conceptions

Question 5

What are the presenting symptoms of Hypogonadism?

Answer 5

Symptoms of Oestrogen Deficiency

Symptoms of the underlying cause

Question 6

What are the symptoms of oestrogen deficiency?

Answer 6

Night sweats 
Hot flushing 
Vaginal dryness 
Dyspareunia 
Decreased libido
Infertility

Question 7

What are the signs of PRE-Pubertal Hypogonadism on physical examination?

Answer 7

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

Question 8

What are the signs of POST-Pubertal Hypogonadism?

Answer 8

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

Question 9

What are the signs of Hypothalamic/Pituitary Disease on physical examination?

Answer 9

Visual Field Defects

Question 10

What are the signs of Kallmann’s Syndrome on physical examination?

Answer 10

Anosmia

Question 11

What are the signs of Turner’s Syndrome on physical examination?

Answer 11

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

Question 12

What are the signs of Autoimmune Primary Ovarian Failure on physical examination?

Answer 12

There may be signs of other autoimmune disease (e.g. vitiligo)

Question 13

What investigations would you do for Hypogonadism?

Answer 13

Serum Oestradiol
Serum FSH/LH
Screening

Question 14

What would you expect on Serum Oestradiol for Hypogonadism?

Answer 14

LOW

Question 15

What would you expect for Serum FSH/LH for the different types of Hypogonadism?

Answer 15

Primary Hypogonadism = HIGH

Secondary Hypogonadism = LOW

Question 16

What investigations would you do specifically for Primary Hypogonadism?

Answer 16

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

Question 17

What screening can we do to investigate Hypogonadism?

Answer 17

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

Question 18

What investigations would you do to investigate Secondary Hypogonadism?

Answer 18

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

Question 19

How do you investigate associated conditions of Hypogonadism?

Answer 19

Turner’s Syndrome - periodic echocardiography, renal US

Autoimmune Oophoritis - check autoimmune adrenal insufficiency