Primary amenorrhoea

Question 1

A 16-year-old girl comes in with her mother because she has not had periods yet. What are your differential diagnoses, investigations and management?

Answer 1

Impression
Patient with primary amenorrhoea (absence of period after 15 years). Consider a wide range of potential causes for this presentation including

• Constitutional
• Functional hypothalamic (exercise, malnourishment)
• Ovarian disease: primary hypogonadism, PCOS
• Endocrine: hyperprolactinaemia, cushings, GnRH deficiency (Kallman syndrome)
• Genetic: Turner syndrome
• Outflow: imperforate hymen
• Other: congenital adrenal hyperplasia (non-classical)

Rule out pregnancy!

Question 2

Primary amenorrhoea - History

Answer 2

History

• Confirm amenorrhoea, no periods to date
• Assess pubertal development (growth spurt timing, breast development, pubic hair, axillary hair, etc), timing of these
• Virilisation symptoms: male pattern baldness, facial hair, deepening of voice, no breast development
• ask about developmental history, neonatal assessment (CAH will have indistinct genitalia)
• Family history of amenorrhoea

Question 3

Primary amenorrhoea - Examination

Answer 3

Examination
- General inspection: features of Turners syndrome (short stature, low hairline, webbed neck, etc. Skin suggestive of hyperandrogegism (hirsutism, acne, striae)
- Vitals, growth parameters
- Breast development according to Tanner stages
- Pelvic examination (with chaperone
o pubic hair development
o inspection of external genitalia
o internal examination for imperforate hymen

Question 4

Primary amenorrhoea - Investigations

Answer 4

Investigations

• Bedside: anthropometric, vitals
• bloods: pituitary panel, 17-hydroxyprogesterone level,
• imaging: pelvic ultrasound: confirm presence of reproductive organs, MRI brain if concerned about pituitary/hypothalamus tumours

Question 5

Primary amenorrhoea - Management

Answer 5

Management
Dependent on the underlying cause of amenorrhoea.
Requires appropriate referral to endocrine, paeds, etc.

Supportive

• patient and family counselling
• clinical geneticist referral?

Definitive

• conservative mx for constitutional delay
• PCOS: COCP, weight loss, treatments for metabolic syndrome
• hormone replacement or supplementation

Referral