corticosteroid-binding globulin deficiency (CBG deficiency)

Epidemiology

rare

Pathology

• reduced corticosteroid-binding capacity
• normal or low plasma corticosteroid-binding globulin concentration

Genetics

• associated with defects in SERPINA6 (CBG)

Clinical manifestations

• hypertension, hypotension
• muscle fatigue

Laboratory

• serum corticosteroid-binding globulin is low or normal
• serum cortisol (unstimulated) is norml

More general terms

• inborn error of metabolism

Database

• OMIM: https://mirror.omim.org/entry/611489