Abstract
Cushing’s disease, or pituitary ACTH dependent Cushing’s syndrome, is a rare disease responsible for increased morbidity and mortality. Signs and symptoms of hypercortisolism are usually non specific: obesity, signs of protein wasting, increased blood pressure, variable levels of hirsutism. Diagnosis is frequently difficult, and requires a strict algorithm. First-line treatment is based on transsphenoidal surgery, which cures 80% of ACTH-secreting microadenomas. The rate of remission is lower in macroadenomas. Other therapeutic modalities including anticortisolic drugs, radiation techniques or bilateral adrenalectomy will thus be necessary to avoid long-term risks (metabolic syndrome, osteoporosis, cardiovascular disease) of hypercortisolism. This review summarizes potential pathophysiological mechanisms, diagnostic approaches, and therapies.
Highlights
Cushing’s disease, or pituitary Adrenocorticotropin hormone (ACTH) dependent Cushing’s syndrome, is a rare disease responsible for increased morbidity and mortality
Patients with other pituitary transcription factors mutations (PROP1, LHX3, LHX4, HESX1) usually present combined pituitary hormone deficiencies including inconstant corticotroph deficiency. As some of these factors are still expressed at adult age, and their role is not precisely known, it could be tempting to speculate on potential roles of an overexpression of these proteins in pituitary adenomas ontogenesis
CRH injection coupled with dexamethasone suppression test, is in favor of Cushing’s syndrome with 90% sensitivity and 84% specificity in the presence of peak cortisol > 580 nmol/l and ACTH > 50 pg/ml [31]
Summary
Clinical characteristics Hypercortisolic state may include several clinical signs [5,6]. – Obesity: obesity with centripetal fat deposition (face, supraclavicular and dorso-cervical fat pads), facial plethora, rounded face, buffalo-hump. – Signs of protein wasting: thin skin, abdominal purple to red and wide cutaneous striae (abdomen, flanks, breasts, hips, axillae), easy bruising, slow healing, muscle wasting (lower limbs muscle atrophy). – High blood pressure – Impaired immune defense mechanisms with increased rate of infections – Gonadal dysfunction and hyperandrogenism: hirsutism (more frequently on the face), menstrual irregularity (oligoamenorrhea, amenorrhea) – Mild to severe psychic disturbances(anxiety, depression, irritability. The most frequent sign is obesity: abnormal fat distribution is considered as the most sensitive sign [7]
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