Congenital Adrenal Hyperplasia Flashcards
What type of conditions are congenital adrenal hyperplasia?
A group of autosomal recessive disorders
What is affected in congenital adrenal hyperplasia?
Adrenal steroid biosynthesis
What does the anterior pituitary secrete in response to low hormone levels?
ACTH
What is the effect of ACTH?
Stimulates the production of adrenal androgens that may virilize a female infant
What is congenital adrenal hyperplasia due to?
Congenital deficiency of the 21-hydroxylase enzyme.
What does congenital deficiency of the 21-hydroxylase enzyme result in?
- Underproduction of cortisol and aldosterone
* Overproduction of androgens from birth
What are the 2 main deficiency’s with congenital adrenal hyperplasia?
- 21-hydroxylase deficiency (90%)
* 11-beta hydroxylase deficiency (5%)
What is a key feature in females with CAH deficiency?
Virilised genitalia, known as “ambiguous genitalia”
What do females also have with CAH?
Enlarged clitoris
Why do females with CAH have an enlarged clitoris?
High testosterone levels
What metabolic disturbances can a female with CAH present with after birth?
- Hyponatraemia
- Hyperkalaemia
- Hypoglycaemia.
What symptoms can the metabolic disturbances result in?
- Poor feeding
- Vomiting
- Dehydration
- Arrhythmias
When do less severely affected by CAH patients tend to present?
During childhood or after puberty.
How females who are more mildly affected by CAH present?
- Tall for their age
- Facial hair
- Absent periods
- Deep voice
- Early puberty
How males who are more mildly affected by CAH present?
- Tall for their age
- Deep voice
- Large penis
- Small testicles
- Early puberty
