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GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY (GCCD4)

GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY (GCCD4)
614736
OMIM = Online Mendelian Inheritance of Men
361
NAD(P) transhydrogenase, mitochondrial
5p12
very rare
autosomal recessive
mutation in the NNT gene
Laboratory findings    Adrenocorticotropic hormone (ACTH) inc (plasma)
    Aldosterone dec (plasma)
    Cortisol dec (plasma)
    D-Glucose dec (serum)
    Potassium inc (serum)
    Renin activity (PRA) or renin inc (plasma)
    Sodium inc (urine)
    Sodium dec (serum)
Symptoms    coma
    cryptorchism
    failure to thrive
    hyperkalemia
    hyperpigmentation
    hypoglycemia
    hyponatremia
    hypothyroidism
    infections (severe or recurrent)
    onset, adolescent
    onset, childhood
    onset, infancy
    puberty, precocious
    seizures