In our patient we documented low serum cortisol level (11.7 ng/mL) and high adrenocorticotropic hormone (ACTH). Diagnosis was confirmed by stimulation with Cortrosyn test. Anti-adrenocortical antibodies against the steroidogenic enzyme, 21-hydroxylase were not detected.
Addison's disease or primary adrenocortical insufficiency is a rare condition that causes deficiency in glucocorticoids, mineralocorticoids and androgens. It could be life-threatening if diagnosis is missed. Most cases are due to autoimmune destruction, followed by tuberculosis. It can be related to autoimmune polyendocrine syndromes type II or I. HIV, fungal infections, hemorrhage, drugs, infiltrative disorders and metastases could cause it. Onset of symptomatology, usually insidious and nonspecific, appears after >
90% of the gland is destroyed, explaining why patients are diagnosed after several years. Symptoms include weakness, anorexia, weight loss, myalgia, arthralgia, hypotension, nausea, vomit, abdominal pain, constipation, diarrhea and generalized hyperpigmentation [
- Torrejo´ N.S.
- Webb S.M.
- Rodrı'guez-Espinosa J.
- et al.
Long-lasting subclinical Addison's disease.
- Bleicken B.
- Hahner S.
- Ventz M.
- et al.
Delayed diagnosis of adrenal insufficiency is common: a cross-sectional study in 216 patients.
]. The latter resulted from stimulation of melanocortin receptors on keratinocytes by the ACTH produced by the corticotrophs. Hyperpigmentation rules out secondary adrenal insufficiency. Other symptoms are vitiligo, salt craving, amenorrhea, infertility, auricular calcification and depression. Patients also present with normal or low serum sodium, normal or high serum potassium, metabolic acidosis, hypoglycemia, low serum cortisol and elevated ACTH. Confirmation is achieved with cosyntropin stimulation test after suboptimal cortisol response at 30 and 60 min. Hormonal replacement must be started as soon as diagnosis is made.