Congenital, Prepubertal and Pubertal Gynaecological Disorders (3)

Question 1

Congenital Adrenal Hyperplasia:
What is this due to?

What occurs in Salt-wasting CAH?
→ What occurs a few wks after birth? What does this lead to?
→ Why does it not present at birth?

What occurs in Virilising CAH?

Answer 1

➊ Due to congenital 21-hydroxylase deficiency, which converts progesterone into adrenal hormones

➋ • Deficiency of 21-hydroxylase → Reduced cortisol and aldosterone
• High ACTH in response to this leads to the adrenal hyperplasia
• Remaining progesterone is instead converted to testosterone
→ Huge volumes of sodium are lost and potassium is retained → Hypotension, dehydration, metabolic acidosis, vomiting
→ Symptoms are due to low aldosterone, and the foetus has placental supply

➌ • Still some 21-hydroxylase activity and subsequent aldosterone production, therefore features of salt-wasting aren’t present
• Symptoms are only based on the excess androgens, which will present later

Question 2

How does it present?

Answer 2

• Ambiguous genitalia and an enlarged clitoris
• Virilisation - symptoms related to high androgen levels e.g. tall for age, facial hair, absent periods, deep voice, early pubarche
• Salt-wasting crises – Hyponatraemia, Hyperkalaemia, Hypoglycaemia
• Precocious puberty
• Vomiting
• Skin hyperpigmentation – due to increased ACTH in response to low cortisol

Question 3

How is it managed?

Answer 3

Hydrocortisone and Fludrocortisone for steroid replacement