It is estimated that 10–15 million people in the world have Cushing’s disease. Cushing’s disease is readily diagnosed in adults within the ages of 20–50 years. Women are more prone (70%) to have Cushing’s dis ease than men (30%). Cushing’s disease generally occurs after the end of puberty with equal frequency in girls and boys. Cushing’s disease is potentially fatal if untreated. The symptoms of Cushing’s syndrome result uniformly from an excess of cortisol. At the present time, virtually all individuals with Cushing’s syndrome can be treated effectively, and a significant proportion can be cured.

The many effects of Cushing’s disease are summarized in Table 1. The figure illustrates the ~10 bodily locations where some aspect of Cushing’s disease creates a visible body marker, which can be helpful in making a clinical diagnosis. Hyperproduction of cortisol from the adrenal gland would be expected to occur if there is a tumor of the adrenal producing abnormal amounts of the steroid or if there is a pituitary tumor producing high levels of ACTH. Adrenalectomy is often a treatment of the primary disease, with the concomitant maintenance levels of glucocorticoids taken orally. Adrenal tumors are more common in the female adult. Figure 1 shows a case of adrenocortical hyperplasia in a 5-year-old girl with congenital adrenogenital syndrome.

Table1. Effects of Overproduction of Cortisol (Cushing’s Syndrome)

Fig1. Bilateral diffuse adrenocortical hyperplasia of the adrenal glands in a 5-year-old girl with congenital adrenogenital syndrome. This photograph illustrates the close anatomical relationship between the adrenal glands and the kidneys. The bean-shaped organ below the adrenal gland is the kidney. The upper arrow points to the hyperplastic glands. Reproduced from Labbart, A. (Editor) (1976) Clinical Endocrinology, p. 362. Springer-Verlag, Berlin and New York.

Congenital adrenal hyperplasia (CAH) is the terminology to describe several autosomal recessive diseases that result from mutations of enzymes or genes in the several pathways of steroid biosynthesis, e.g., conversion of cholesterol to cortisol.

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