Congenital Adrenal Hyperplasia
Definition
- Hyperplasia of Adrenal gland
- Affects production of 3 main hormones- Cortisol, Aldosterone, Testosterone
Cause
- Deficiency of enzymes in the synthetic pathway of Adrenal Cortex
There are 2 types
- Classical type- due to the deficiency of enzyme 21-hydroxylase enzyme.
- Non Classical type
Pathology
In classical CAH
- There is a block in the production of cortisol and aldosterone with the build-up of 17-hydroxyprogesterone.
- The precursors cause virilisation features
Presentation
- Ambiguous genitalia
- Salt losing crisis
- Hypotension
- Hypertension in 11beta hydroxylase deficiency
- Precocious puberty
- Virilisation
Investigations
- Karyotype
- 17-hydroxyprogesterone levels
- Urine steroid profile
- Adrenal androgen levels
- Bone age
Treatment
- Hydrocortisone and fludrocortisone replacement
- Additional Sodium chloride especially in the first year of life
Monitoring
- Teach parents to recognise signs of illness
- Physical growth monitoring can be used to follow the effectiveness of treatment