Hypogonadism (female)

Question 1

Definition

Answer 1

DEFINITION: characterised by impairment of ovarian function

Question 2

Causes

Answer 2

PRIMARY hypogonadism (hypergonadotrophic)

• Gonadal dysgenesis → chromosomal abnormalities (e.g.

Turner’s syndrome), FMR1 gene pre-mutation carriers
- Gonadal damage → autoimmune, iatrogenic (chemotherapy,

radiation, surgery)

SECONDARY hypogonadism (hypogonadotrophic)

• Functional → stress, weight loss, excessive exercise, eating

disorders (anorexia nervosa, bulimia)
- Pituitary/hypothalamic tumours and infiltrative lesions →

pituitary adenomas, craniopharyngiomas, haemochromatosis - Hyperprolactinaemia → prolactinomas or tumours causing

pituitary stalk compression
- Congenital GnRH deficiency →Kallmann’s syndrome,

idiopathic.

Question 3

Epidemiology

Answer 3

Secondary hypogonadism is a more common cause of an ovulation and amenorrhoea than primary hypogonadism

Question 4

Symptoms

Answer 4

Oestrogen deficiency – night sweats, hot flush, vaginal dryness, dyspareunia, ↓libido, infertility

Symptoms of the underlying cause

Question 5

Signs

Answer 5

PRE-Pubertal Hypogonadism

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

POST-Pubertal Hypogonadism

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

Hypothalamic/Pituitary disease - visual field defects

Kallmann’s syndrome - anosmia

Turner’s syndrome

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

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

Question 6

Investigations

Answer 6

Low serum oestradiol

Serum FSH/LH

• Primary hypogonadism = HIGH
• Secondary hypogonadism = LOW

Primary Hypogonadism Investigations

• Karyotype (look for chromosomal abnormalities)
• 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

Secondary Hypogonadism Investigations

• 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)

Investigating associated conditions

• Turner’s Syndrome - periodic echocardiography, renal US
• Autoimmune Oophoritis - check autoimmune adrenal insufficiency