Cushing syndrome in Child
Cushing disease accounts for two-thirds of all cases of endogenous Cushing syndrome and is caused by excessive secretion of ACTH hormone by a pituitary microadenoma. This leads to increased secretion of cortisol (secondary adrenal hypercortisolism) from the adrenal cortex as well as increased levels of androgens. The typical cushingoid features seen in patients with Cushing syndrome arise because of the glucocorticoid excess. These cushingoid features are due in part to fat redistribution and typical skin changes.
Skin changes in Cushing syndrome are manifold. The skin becomes thin and translucent, and ecchymoses occur following minor trauma. Thinning of the epidermis also leads to the plethoric appearance of the skin. Hyperpigmentation of the skin may be seen but is more common in pituitary or ectopic ACTH production. Although generalized, it tends to occur on sun-exposed areas. Addison disease also results in a similar pattern of hyperpigmentation in sun-exposed areas, but it also occurs in the following areas: in the palmar creases, areas of friction, vermilion border, genital skin, and oral mucosa.
Acne, hirsutism, and menstrual irregularities, either oligomenorrhea or amenorrhea, arise due to the increased levels of androgens.
Cortisol hypersecretion also predisposes to hypertension, peripheral edema, glucose intolerance, gonadal dysfunction, osteoporosis, and proximal muscle weakness. Psychiatric symptoms may be present in a large majority of patients (more than 70%), and severity of symptoms range from anxiety to mania, depression, and frank psychosis. Insomnia presents early in the disease.
Ectopic ACTH production can also lead to Cushing syndrome. In these patients, because the onset of Cushing syndrome is sudden, there is no time to develop the characteristic clinical features. Instead, these patients will have sudden-onset hypertension, edema, glucose intolerance, and hypokalemia. Seventy-five percent of these tumors are small cell lung carcinoma. Ectopic ACTH is produced by bronchial carcinoids, thymic or pancreatic carcinoids, thymic neuroendocrine tumors, medullary carcinoma of the thyroid, or pheochromocytomas.
Patients with carcinoid tumors or pheochromocytomas usually have the typical cushingoid features, as these develop over a longer period of time. Due to the immunosuppressive effects of glucocorticoids, these patients commonly develop cutaneous staphylococcal, candidal, and superficial fungal infections. The incidence of pituitary-dependent adrenal hyperplasia is more common in women by 3-fold, with the average age of onset being in the 3rd and 4th decade.
Mortality is increased 4-fold compared with the general population, with cardiovascular disease being the major cause of death.
Although uncommon in children, obesity along with retarded growth may be a presenting feature.
This summary focuses primarily on adult patients.
Related topic: Pseudo-Cushing syndrome
E24.9 – Cushing's syndrome, unspecified
47270006 – Cushing's syndrome