CAH

Question 1

what is CAH?

Answer 1

• congenital adrenal hyperplasia

- a group of rare genetic disorders associated with enzyme defects in the steroid pathway

Question 2

what is the most common cause for CAH?

Answer 2

21a hydroxylase deficiency (95% of cases)

Question 3

what is the difference between classic and non classic CAH?

Answer 3

Classic CAH:

• tends to present in infancy
• 2/3 of patients have the salt losing form
• rarer and more severe
• 1/3 patients have the viralising form

Non Classic CAH:

• presents in childhood or early adult hood
• more common and milder

Question 4

how does classical CAH present in males?

Answer 4

• adrenal insufficiency in first 2-3 weeks
• poor weight gain
• hyperpigmentation of scrotum
• biochemical markers of Addisons (too little cortisol, too little aldosterone, hyponotraemia, hyperkalaemia, hypoglycaemia)

Question 5

how does classic CAH present in female neonates?

Answer 5

-genital ambiguity

Question 6

How does classic CAH present in female adolescents?

Answer 6

• Hirsute (hair growth)
• acne
• oligmenorrhea
• precocious puberty
• infertility of sub fertility

Question 7

what are the two types of classical CAH?

Answer 7

• 2/3 experience salt wasting (which is more severe)

- 1/3 experience simple virilizing (more moderate)

Question 8

what will females with simple virilizing classic CAH experience?

Answer 8

-genital ambiguity

Question 9

how does non classic CAH present?

Answer 9

-hyperandrogenaemia (excessive testosterone, aldosterone)

Question 10

what are the investigations for CAH?

Answer 10

17-hydroxy- progesterone test

Question 11

what is the treatment for CAH in children?

Answer 11

• timely recognition
• glucocorticoid replacement
• mineralcorticoid replacement in some
• surgical correction
• achieve maximal growth potential

Question 12

what is the treatment for CAH in adults?

Answer 12

• control androgen excess
• restore fertility
• avoid steroid over replacement