Congenital adrenal hyperplasia
- Results from an autosomal recessive defect in the biosynthesis of cortisol.
- Responsible for the large majority of cases of adrenogenital syndrome developing in the first year of life.
- Most common enzyme deficiencies are 21-hydroxylase and 11β-hydroxylase.
- Patients may have abnormalities of sexual development, salt wasting, hypertension or adrenal insufficiency.
- Females may have masculinization and males have precocious puberty.
- Gross: marked thickening of adrenal with enlarged with cerebriform appearance.
- Histology: diffuse cortical hyperplasia, particularly involving the zona reticularis, and cortical cells are lipid depleted.
- May have tumors in testes hilus due to increase ACTH.
Acquired adrenal hyperplasia
- Always bilateral.
- Associated with ACTH or CRH production from pituitary and hypothalamus or from ectopic sites (e.g. small cell carcinoma).
- Hyperaldosteronism can be associated with AAH, although most are due to adrenocortical adenoma.
- Often diffuse, or diffuse and nodular if nodule is >1cm (image A).