Conditions / Endocrine
glucocorticoid deficiency 5
info · Endocrine
A familial glucocorticoid deficiency that has_material_basis_in homozygous mutation in the TXNRD2 gene on chromosome 22q11.
Signs and symptoms
- Decreased circulating cortisol level
- Hyperpigmentation of the skin
- Abnormal response to ACTH stimulation test