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Summary
GLUCOCORTICOID RESISTANCE (GCCR)
GLUCOCORTICOID RECEPTOR DEFICIENCY
615962
OMIM = Online Medalian Inheritance of Men
786
5q31.3
rare
autosomal dominant
autosomal recessive (?)
mutation in the glucocorticoid receptor gene (NR3C1, GCCR)
hypercortisolism without Cushing syndrome
symptoms
acne
behavior, anxiety
fatigue, severe or unusual
hirsutism
hypertension
hypoglycemia
menstrual irregularities
metabolic alkalosis
no consistent clinical signs or symptoms
onset, adolescent
onset, childhood
onset, infancy
onset, neonatal
laboratory finding
Cortisol nmol/lplasma
D-Glucose1.003.00 mmol/lplasma
Cortisol increasedurine
Adrenocorticotropic hormone (ACTH) lowplasma
Literature
Stowasser M,et al.Severity of hypertension in familial hyperaldosteronism type I: relationship to gender and degree of biochemical disturbanceJ Clin Endocrinol Metab8562160-21662000
Nordmann YPorphyriasin Fernandes J, Saudubray JM, van den Berghe (eds): Inborn metabolic diseases, diagnosis and treatment Berlin, Springer Verlag00333-3401996
Nordmann YPorphyriasin Fernandes J, Saudubray JM, van den Berghe (eds): Inborn metabolic diseases, diagnosis and treatment Berlin, Springer Verlag00333-3401996
Blau Net al.Physicians Guide to the Laboratory Diagnosis of Metabolic DiseasesSpringer000
Lew RM,et al.Ashkenazi Jewish population screening for Tay-Sachs disease: the international and Australian experienceJ Paediatr Child Health513271-2792015
Komrover GMWestall RHydroxykynureninuriaAm J Dis Child113077-801969
Nordmann YPorphyriasin Fernandes J, Saudubray JM, van den Berghe (eds): Inborn metabolic diseases, diagnosis and treatment Berlin, Springer Verlag00333-3401996
von Dobeln Uet al.Retrospective diagnosis of 3-hydroxydicarboxylic aciduria by analysis of filter paper blood samplesJ Inherit Metab Dis130165-1681990
New Author000
Blau Net al.Physicians Guide to the Laboratory Diagnosis of Metabolic DiseasesSpringer000
Engelke UFHWevers RAHandbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopySPS000
Rubtsov P,et al.A novel homozygous mutation in CYP11A1 gene is associated with late-onset adrenal insufficiency and hypospadias in a 46,XY patientJ Clin Endocrinol Metab943936-9392009
Hagenfeldt Let al.3-Hydroxydicarboxylic aciduria - a fatty acid oxidation defect with severe prognosis J Pediatr1160387-3921990
Sahakitrungruang T,et al.Partial defect in the cholesterol side-chain cleavage enzyme P450scc (CYP11A1) resembling nonclassic congenital lipoid adrenal hyperplasiaJ Clin Endocrinol Metab963792-7982011