GLUCOCORTICOID RESISTANCE (GCCR)

Question 1

What is  GLUCOCORTICOID RESISTANCE (GCCR)?

Accepted Answer

rare
autosomal dominant
autosomal recessive (?)
mutation in the glucocorticoid receptor gene (NR3C1, GCCR)
hypercortisolism without Cushing syndrome

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Glukokortikoid-Resistenz

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 615962

Question 4

Which enzymes are involved?

Accepted Answer

Glucocorticoid receptor

Disease	GLUCOCORTICOID RESISTANCE (GCCR)
Synonym	GLUCOCORTICOID RECEPTOR DEFICIENCY
OMIM	615962 OMIM = Online Mendelian Inheritance of Men
Orphanet	786
Protein (UniProt)	Glucocorticoid receptor
Gene locus	5q31.3
ICD	E25.8
Summary	rare autosomal dominant autosomal recessive (?) mutation in the glucocorticoid receptor gene (NR3C1, GCCR) hypercortisolism without Cushing syndrome
Laboratory findings	D-Glucose dec (plasma) Adrenocorticotropic hormone (ACTH) normal/inc (plasma) Cortisol inc (plasma) Cortisol inc (urine)
Symptoms	acne behavior, anxiety fatigue, severe or unusual hirsutism hypertension hypoglycemia menstrual irregularities metabolic alkalosis no clinical symptoms (probably) onset, adolescent onset, childhood onset, infancy onset, neonatal