Conditions / Endocrine
ACTH-independent macronodular adrenal hyperplasia 2
info ยท Endocrine
An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in a combination of autosomal dominant and second hit somatic mutation in the ARMC5 gene on chromosome 16p11.2.
Signs and symptoms
- Increased urinary cortisol level
- Decreased circulating ACTH concentration
- Increased circulating cortisol level
- Hyperglycemia
- Fatigue
- Osteoporosis
- Macronodular adrenal hyperplasia
- Depression
- Hypertension
- Round face
Also known as: AIMAH2