X-linked buildup of VLCFAs in adrenals and cerebral or spinal cord involvement neuromuscular diseaseĭelayed puberty, contiguous gene mutations (Duchenne’s muscular dystrophy, glycerol kinase)Īutosomal recessive achalasia, alacrima, adrenal insufficiency Meningococcemia leading to adrenal hemorrhageĪutosomal recessive mutation of 21-hydroxylase and othersĪdrenal steroid profiles, genetic testing CYP21Īdrenoleukodystrophy adrenomyeloneuropathy PPD, cultures, imaging, biopsy, ELISA or Western blot TB, fungal, cancer, amyloidosis, sarcoid, hemochromatosis, CMV (HIV patients)

Type 2: type 1 diabetes, thyroiditis, other autoimmune Type 1: hypoparathyroidism and mucocutaneous candidiasis Table 70-1 Causes of Primary Adrenal Insufficiency Cause Loss of negative feedback from low cortisol levels leads to high ACTH in these disorders. Enzyme defects can cause cortisol deficiency with an excess of precursor hormones.

Destruction of the gland leads to deficiencies in all adrenal cortex hormones, but this process may be metasynchronous, and not all hormones are lacking in all patients. In developing countries, tuberculosis remains the most prominent cause. The most common cause in the developed world is autoimmune adrenalitis, also known as Addison’s disease. Primary adrenal insufficiency is caused by congenital or acquired dysfunction of the adrenal cortex or the hormone-producing steroidogenic pathway ( Table 70-1).

Disorders of adrenal gland