[Familial glucocorticoid deficiency].
Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder, in 40% of patients caused by mutation in the ACTH receptor gene. In the remaining affected persons most probably mutation refers to regulatory region of ACTH receptor or other factors responsible for differentiation of the adrenal cortex. FGD is characterized by elevated ACTH and low serum morning cortisol level that does not respond to exogenous ACTH stimulation. Mineralocorticoid function remains unaffected. Clinical symptoms of FGD are due to glucocorticoid deficiency and are manifested in infancy or early childhood. Typically they include skin hyperpigmentation, failure to thrive, hypoglycaemia, which in some children may be lethal. Allgrove's syndrome, is considered to be a separate condition, characterized by glucocorticoid deficiency along with alacrimia, achalasia and neurological deficits. Treatment of FGD includes substitution of glucocorticoids with dose adjustment depending on the clinical state. Such treatment usually prevents from hypoglycaemia and provides normal growth and development of the patient.
Mazur
Artur
A
Instytut Fizjoterapii Uniwersytetu Rzeszowskiego. drmazur@poczta.onet.pl
Ostański
Mariusz
M
Kalina
Maria
M
D000309:Adrenal Insufficiency / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D000324:Adrenocorticotropic Hormone / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D005808:Genes, Recessive; D005938:Glucocorticoids / Q000172:deficiency* / Q000235:genetics / Q000494:pharmacology; D006801:Humans; D006854:Hydrocortisone / Q000008:administration & dosage / Q000627:therapeutic use; D017495:Hyperpigmentation / Q000188:drug therapy / Q000209:etiology / Q000235:genetics; D007003:Hypoglycemia / Q000188:drug therapy / Q000235:genetics; D007223:Infant; D044342:Malnutrition / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism; D008565:Membrane Proteins / Q000378:metabolism; D009154:Mutation; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins / Q000378:metabolism; D010641:Phenotype; D044103:Receptor, Melanocortin, Type 2 / Q000378:metabolism
C416506:AAAS protein, human; D005938:Glucocorticoids; C458099:MRAP protein, human; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins; D044103:Receptor, Melanocortin, Type 2; D000324:Adrenocorticotropic Hormone; D006854:Hydrocortisone