Factitious <scp>ACTH</scp>‐dependent, apparent hypercortisolism: The problem with late‐night salivary cortisol measurements collected at home

Kline, Gregory; Buse, Joshua; Gugten, J. Grace van der; Holmes, Daniel T.; Chin, Alex; Sadrzadeh, S.M. Hossein

doi:10.1111/cen.13478

Cited by 7 publications

(7 citation statements)

References 13 publications

(6 reference statements)

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“…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.…”

Section: Discussionmentioning

confidence: 99%

“…As well as clinical features, also the biochemical profile of the HPA axis can be extremely heterogeneous in patients with factitious CS. Indeed, plasma ACTH and serum or urinary cortisol values are very low in some cases, but normal or increased in other ones (6,10,11). In some patients, the biochemical profile mimics Cushing's disease, and MRI can incidentally detect small pituitary lesions (12).…”

Section: Discussionmentioning

confidence: 99%

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

Cannavò

2021

Endocrinology, Diabetes &Amp; Metabolism Case Reports

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Summary Factitious Cushing’s syndrome (CS) is a very rare form of Münchausen syndrome. Its presentation and course are extremely heterogeneous, and diagnosis is generally challenging. We report the case of a 52-year-old woman who was initially investigated because of the occurrence of cushingoid features. Nevertheless, endocrine work-up showed very low morning plasma ACTH and serum cortisol levels. In addition, it also demonstrated central hypopituitarism and hypogonadotropic hypogonadism. Head MRI showed a small pituitary mass. Based on these results, and probably overlooking the initial clinical suspicion, general practitioner (GP) referred the patient to our Endocrine Unit for hypopituitarism. At inspection, moon face, central obesity, and bruising were evident. Multiple ulcerative skin lesions were also concentrated in the right arm and leg. Dermatology evaluation suggested that the lesions were self-provoked. For several days, the patient denied the assumption of corticosteroids, but we finally discovered that the GP’ nurse had prescribed betamethasone without the GP’s knowledge for about 2 years. In conclusion, the surreptitious assumption of corticosteroids is very rare, but the physicians should be aware that pituitary function could be impaired by high doses of corticosteroids, mimicking hypopituitarism. In these patients, a multidisciplinary approach and environmental investigation can be useful to diagnose factitious CS. Learning points Surreptitious assumption of corticosteroids can cause heterogeneous presentation, ranging from Cushing’s syndrome to multiple hypopituitarism. Suppression of ACTH and cortisol levels in a patient with cushingoid features firstly suggests surreptitious assumption of corticosteroids. A multidisciplinary approach can be extremely useful in patients with suspected factitious Cushing’s syndrome. Sometimes, to prove surreptitious assumption of corticosteroids needs environmental investigation.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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

Cannavò

2021

Endocrinology, Diabetes &Amp; Metabolism Case Reports

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“…There are 23 cases reported in the literature. Eighty two percent were female, with a mean age of 37 years old (4–16). Almost half (43%) had a personal contact or occupation related to the medical field, and 57% history of psychiatric disorders.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2019

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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.

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“…Mass spectrometric measurements may be also useful to detect specific synthetic steroids. Simultaneous measurements of natural and synthetic glucocorticoids may enable the rapid identification of surreptitious medication or contamination of saliva [62]. Although the mass spectrometry measurements used in routine clinical practice cannot distinguish between exogenous and endogenous cortisol, simultaneous measurement of salivary cortisol and cortisone may help identify samples contaminated with topical hydrocortisone based on an elevated cortisol:cortisone ratio [63].…”

Section: Mass Spectrometry Measurementsmentioning

confidence: 99%

Cortisol Measurements in Cushing’s Syndrome: Immunoassay or Mass Spectrometry?

Casals

Hanzu

2020

Ann Lab Med

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Determination of cortisol levels in the urine (24 hours urine free cortisol), saliva (late-night), or serum (total cortisol after dexamethasone suppression) is recommended to screen for Cushing's syndrome (CS). This review focuses on the differences between the frequently used cortisol-antibody immunoassay-based methods and the highly specific mass-spectrometry-based methods that are progressively being employed in clinical laboratories for CS screening. The particular characteristics of cortisol metabolism and the lack of specificity of the immunoassays cause marked differences between both methods that are in turn highly dependent on the biological matrix, in which the cortisol is measured. Understanding the origin of these differences is essential for the interpretation of these results. Although cross-reactivity with endogenous steroids leads to grossly inaccurate results of immunoassay measurements of cortisol in the saliva and urine, preliminary evidence suggests that the clinical sensitivity of CS screening using immunoassays may be similar to CS screening using mass spectrometry. However, mass spectrometry offers more accurate results and considerably reduced variation across laboratories, while avoiding false-positive results. Moreover, mass spectrometry can overcome some common diagnostic challenges, such as identification of exogenous corticosteroids or simultaneous assessment of appropriate dexamethasone levels in suppression tests. Further, comprehensive mass spectrometry-based profiling of several steroid metabolites may be useful for discriminating among different subtypes of CS. Finally, this review discusses the main preanalytical factors that could cause variations in cortisol measurements and their influence on the reliability of the results.

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Factitious ACTH‐dependent, apparent hypercortisolism: The problem with late‐night salivary cortisol measurements collected at home

Cited by 7 publications

References 13 publications

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

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

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

Cortisol Measurements in Cushing’s Syndrome: Immunoassay or Mass Spectrometry?

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