Factitious Cushing's Syndrome: A Diagnosis to Consider When Evaluating Hypercortisolism

Abstract

Factitious Cushing's syndrome is exceptionally rare. The diagnosis is challenging due to the interference of exogenous corticosteroids with cortisol immunoassays. We present a case of a 26 year old female that presented with clinical and biochemical features of Cushing's syndrome. She denied any exogenous corticosteroid use. She had a suppressed ACTH level with normal adrenal glands on CT scans. There was a paradoxical increase of cortisol with a 100% rise in 24 h urinary free cortisol (UFC) during the Liddle's test suggestive of primary pigmented nodular adrenocortical disease (PPNAD). However, basal UFC levels were within normal values, interpreted as an intermittent variation of cortisol secretion maybe due to cyclic Cushing's. At this point a synthetic glucocorticoid serum screening was ordered, which was denied by the administrators because the test was not available in our hospital. A positron emission tomography (PET)-CT using 18 F-Flurodeoxyglucose did not show any uptake in the adrenal glands. With the diagnosis of probable primary pigmented nodular adrenocortical disease a unilateral right adrenelectomy was performed. Histopathological examination revealed normal adrenal gland. A synthetic glucocorticoid serum screen by liquid chromatography-tandem mass spectrometry (LC-MS/MS) sent to Mayo Clinic lab revealed high levels of serum prednisone and prednisolone. In conclusion, factitious Cushing's syndrome is an important diagnosis to consider in patients being evaluated for hypercortisolism. Discordant hormonal test results as well as normal findings on adrenal glands on CT scan should raise suspicion of this entity, and prompt measurement of synthetic corticosteroids using LC-MS/MS.

Factitious Cushing’s syndrome, hypopituitarism, and self-provoked skin lesions: when the skin mirrors the soul

“…Skin biopsy is generally unnecessary, because the diagnosis is easy, especially for an expert eye. A history of depression is reported in many cases of factitious CS, but psychiatric evaluation can be negative or demonstrate only mild personality disorders as in our patient (9). On the other hand, anxiety, major depression, and bipolar disorders are frequently observed in patients with endogenous CS (4).…”

“…In many cases, steroids measurement by LC-MS/MS allowed a correct diagnosis, but it followed invasive, expensive, and sometimes unnecessary procedures. For instance, the investigation included adrenal scintigraphy, inferior petrosal sinus sampling, PET, or finally NR3C1 gene sequencing, in some patients ( 6 , 9 , 10 , 13 ). The physicians should be aware that the risk of misdiagnosis in presence of incidentally discovered pituitary or adrenal masses could be very high, especially if the HPA axis is not suppressed, but also that pituitary function can be impaired by high doses of corticosteroids.…”

Factitious cushing’s syndrome with unusual presentation: a case report and literature review

“…It usually presents with an atypical presentation not supported by the clinical examination including physical examination, laboratory test, or imaging 11 . Patients with factitious illnesses tend to produce physical or psychological symptoms intentionally for internal incentives and to receive medical attention 4 . Clinical features of the factitious disorder are diverse, but most documented cases are women under the age of 30 who have a generally stable social life and work in or have access to the healthcare field, have a high rate of substance addiction, and have mood or personality disorders 12 .…”

“…Maria M Pineyro et al conducted a literature review of 23 patients with factitious CS and found that 82% were female with a median age of 37 years old. Among them, 57% had a history of psychiatric disorders, and 43% had contact with the medical field 4 . A summary of the previously reported cases in the last 10 years is listed in Table 1 .…”

“…This type of factitious disorder is characterized by self-inflicted injuries, the use of glucocorticoid drugs 3 , or the manipulation of laboratory tests to produce false results 4 .…”