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ADRENAL HYPOPLASIA. ADDISON DISEASE, X-LINKED

ADRENAL HYPOPLASIA. ADDISON DISEASE, X-LINKED
ADRENAL HYPOPLASIA; ADRENAL HYPOPLASIA, CONGENITAL
300200
OMIM = Online Mendelian Inheritance of Men
95702
Nuclear receptor subfamily 0 group B member 1
Xp21.2
E27.1
rare
autosomal recessive X-linked
mutation in the NR0B1 gene
disorders with adrenal insufficiency are Adrenoleukodystrophy, Adrenomyeloneuropathy, Glycerol kinase deficiency
Laboratory findings    17-Ketosteroids dec (urine)
    Adrenocorticotropic hormone (ACTH) inc (plasma)
    Cortisol dec (serum)
    D-Glucose normal/dec (serum)
    pH normal/dec (blood)
    Potassium inc (serum)
    Sodium dec (serum)
Symptoms    cryptorchism
    cyanosis
    dehydration
    early death
    failure to thrive
    feeding difficulties, poor feeding
    growth retardation, poor growth
    hyperpigmentation
    hypoglycemia
    hypotension
    metabolic acidosis
    onset, childhood
    onset, infancy
    onset, neonatal
    seizures
    tachypnea, hyperpnea, dyspnea, hyperventilation
    vomiting