Glucocorticoid Receptor Deficiency [Supplementary Concept]
A hereditary autosomal dominant disease characterized by increased plasma and urinary CORTISOL, resistance to adrenal suppression by DEXAMETHASONE, and the absence of clinical stigmata of CUSHING SYNDROME. Symptoms are variable but may include HYPOGLYCEMIA; HYPERTENSION, and metabolic ALKALOSIS; CHRONIC FATIGUE SYNDROME, and ANXIETY. In females, overproduction of adrenal ANDROGENS may cause INFERTILITY, ALOPECIA (male pattern bladness) HIRSUTISM, and menstrual irregularities. Caused by mutations in the NR3C1 gene. OMIM: 615962
Date introduced: November 5, 2012
MeSH Unique ID: C564221
Heading Mapped to:
Entry Terms:
- Glucocorticoid Resistance
- GCR Deficiency
- Cortisol Resistance from Glucocorticoid Receptor Defect
- GCCR Deficiency
- Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance
- Body Composition, Beneficial