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GLUCOCORTICOID DEFICIENCY 5 (GCCD5)

GLUCOCORTICOID DEFICIENCY 5 (GCCD5)
MITOCHONDRIAL THIOREDOXIN REDUCTASE 2 DEFICIENCY, TXNRD2
617825
OMIM = Online Mendelian Inheritance of Men
Thioredoxin reductase 2, mitochondrial
22q11.21
very rare
autosomal recessive
mutation in the TXNRD2 gene
Laboratory findings    Adrenocorticotropic hormone (ACTH) inc (plasma)
    Cortisol dec (serum)
Symptoms    hyperpigmentation
    onset, adolescent
    onset, childhood
    onset, infancy