Congenital Adrenal Hyperplasia

Question 1

What is CAH?

Answer 1

Inherited group of disorders characterised by a deficiency in one of the enzymes needed for cortisol synthesis

Question 2

What is the most common congenital adrenal hyperplasia?

Answer 2

21a-hydroxylase deficiency

Question 3

What is classic CAH and when is it diagnosed?

Answer 3

Diagnosed in infancy due to virilisation/salt wasting

Question 4

What is virilisation?

Answer 4

Development of male physical characteristics (such as muscle bulk, body hair, and deep voice) in a female or precociously in a boy, typically as a result of excess androgen production

Question 5

What is salt wasting?

Answer 5

Cerebral salt-wasting syndrome (CSWS) is a rare endocrine condition featuring a low blood sodium concentration and dehydration in response to injury (trauma) or the presence of tumours in or surrounding the brain. In this condition, the kidney is functioning normally but excreting excessive sodium

Question 6

What is non-classic congenital adrenal hyperplasia? And when does it present?

Answer 6

A partial 21a-hydroxylase deficiency

Adolescence/adulthood

Question 7

Classical presentation of CAH?

Answer 7

• Adrenal insufficiency
• Often around 2-3 weeks
• Poor weight gain
• Biochemical pattern of Addison’s
• Females
• Genital ambiguity (virilisation)

Question 8

Presnetation of non-classical CAH?

Answer 8

• Hirsute
• Acne
• Oligomenorrhoea
• Precocious puberty
• Infertility or sub-fertility
• Menstrual disturbance
• infertility because of anovulation
• Hyperandrogenaemia

Question 9

Diagnosis of CAH?

Answer 9

• Basal (or stimulated) 17-OH Progesterone blood test

- Genetic mutation analysis

Question 10

Management for classic CAH?

Answer 10

• Timely recognition
• Glucocorticoid replacement
• Mineralocorticoid replacement in some
• Surgical correction
• Achieve maximal growth potential

Question 11

Management for non-classic CAH?

Answer 11

• Control androgen XS
• Restore fertility
• Avoid steroid over replacement