Pediatric Adrenal Insufficiency (Addison Disease) Clinical Presentation

Updated: Dec 07, 2018
  • Author: Kimberly Tafuri, DO; Chief Editor: Sasigarn A Bowden, MD  more...
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Presentation

History

Patients with adrenal insufficiency (Addison disease) may have hypoglycemia, and most have hypotension. Orthostatic changes in blood pressure and pulse are cardinal signs of adrenal insufficiency. Symptoms of hypoglycemia are common in small children. Altered mental status, even without hypoglycemia, is common in affected patients with acute adrenal insufficiency.

In infants, acute adrenal insufficiency may occur in the context of serious illness (eg, sepsis), prolonged and difficult labor, or traumatic delivery. Tuberculosis (TB), meningococcemia, or any severe septicemia may also result in adrenal insufficiency. However, adrenal insufficiency may occur without concomitant illness when it is due to congenital adrenal hyperplasia or congenital adrenal hypoplasia.

Chronic adrenal insufficiency

Patients with chronic adrenal insufficiency (Addison disease) usually have chronic fatigue, anorexia, asthenia, nausea, vomiting, loss of appetite, weight loss, recurring abdominal pain, and weakness and a lack of energy. Increased skin pigmentation and salt craving are common among individuals with chronic primary adrenal insufficiency. Salt craving is a symptom typical of patients with dysfunction of the zona glomerulosa; this craving may be the first sign of autoimmune adrenal destruction.

Excess melanocyte-stimulating hormone (MSH) activity from adrenocorticotropic hormone (ACTH) causes the hyperpigmentation. Hyperpigmentation is not noted in patients with secondary or central adrenal insufficiency due to ACTH or corticotropin-releasing hormone (CRH) deficiency, because these conditions do not elevate serum ACTH concentrations. If the defect lies in the pituitary or hypothalamus, aldosterone production is not altered, because the renin-angiotensin system adequately stimulates the adrenal zona glomerulosa to ensure sufficient aldosterone concentrations and to prevent salt wasting.

Patients who have recently received long-term pharmacologic doses of glucocorticoids are prone to develop symptoms of adrenal insufficiency (Addison disease) when they are stressed because of an illness or trauma. In this setting, adrenal insufficiency is due to chronic suppression of CRH and ACTH by exogenous glucocorticoids. As a consequence, patients are unable to mount an appropriate cortisol response to stress. Patients in this situation are not hyperpigmented because ACTH concentrations are not elevated, and they do not waste sodium because their renin-angiotensin system maintains aldosterone secretion. Recovery of the hypothalamic-pituitary-adrenal axis may take weeks to months and is related to how long the patient was exposed to pharmacologic glucocorticoids.

Autoimmune adrenal insufficiency, adrenal insufficiency from adrenoleukodystrophy

In general, autoimmune adrenal insufficiency or adrenal insufficiency due to adrenoleukodystrophy (Online Mendelian Inheritance in Man [OMIM 300100]), chronic infections (eg, human immunodeficiency virus [HIV] infection, TB, fungal infection), or infiltrative lesions usually present with chronic symptoms (eg, fatigue, anorexia, abdominal pain). However, an acute adrenal crisis may exacerbate the symptoms.

See also Adrenal Crisis and Adrenal Insufficiency and Adrenal Crisis.

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Physical Examination

Patients with acute adrenal insufficiency (Addison disease) generally present with acute dehydration, hypotension (especially orthostatic hypotension and tachycardia), symptomatic hypoglycemia, or altered mental status. These signs may occur in conjunction with acute sepsis or disseminated intravascular coagulation or in a patient after a traumatic delivery.

As previously discussed, hyperpigmentation may be seen in primary adrenal insufficiency due to adrenocorticotropic hormone (ACTH) overproduction by the pituitary. The ACTH molecule contains the sequence for alpha-melanocyte-stimulating hormone (MSH), which stimulates melanocytes.

Note increased skin pigmentation, particularly in the areolae and genitalia, as well as any scars or moles. Recent scars are typically affected more than old scars. In addition, areas unexposed to sun (eg, palmar creases, axillae, areolae) are often hyperpigmented, which may help to distinguish hyperpigmentation from sun tan. The patient may also have pigmentary lines in the gums. See the images below.

Left photograph shows hyperpigmentation on the dor Left photograph shows hyperpigmentation on the dorsum of a patient's hand before the treatment of primary adrenal insufficiency. Right photograph shows normal pigmentation after treatment.
Left photograph shows a patient with Addison disea Left photograph shows a patient with Addison disease who has prominent pigmentation in areas not exposed to the sun, such as the palmar creases. Right photograph shows normal pigmentation after treatment.
Left photograph shows vitiligo in a patient with a Left photograph shows vitiligo in a patient with autoimmune adrenalitis. Right photograph shows an area of hyperpigmentation surrounding the vitiligo.

Signs of weight loss may be evident. If the patient is not frankly hypotensive, he or she may have orthostatic hypotension.

Some patients lose pubic and axillary hair because adrenal androgens support growth of body hair in these areas.

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