Diagnosis of Cushing's disease in a patient with consistently normal urinary free cortisol levels: a case report

Moloney, Kelley J.; Mercado, Jennifer; Ludlam, W.H.; Broyles, Frances E.

doi:10.1002/ccr3.647

Cited by 2 publications

(2 citation statements)

References 4 publications

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“…Despite repeatedly negative lab results, the patient presented with a markedly elevated cortisol on adrenal venous sampling. In our literature search, we found an instance of a patient with several negative UFCs [ 3 ]; however, to the best of our knowledge, there have been no reported instances of a completely negative workup in a patient who is positive for Cushing’s syndrome. In fact, in the practice guidelines published by the Journal of Clinical Endocrinology & Metabolism [ 4 ], it is recommended that patients with a suspected diagnosis of Cushing’s syndrome or an adrenal incidentaloma and two concordant negative test results need not undergo further investigations.…”

Section: Discussionmentioning

confidence: 99%

Rare Challenges in Diagnosing Cushing’s Syndrome and Primary Aldosteronism: A Case Report of a Female With a Negative Workup

Jatoi,

Haider-Badenhorst

2023

Cureus

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Cushing's syndrome with concurrent primary aldosteronism (PA) is a rare presentation, and establishing an early diagnosis is imperative to preventing morbidity and long-term sequelae. The diagnosis is established by sequential lab work, showing an elevated cortisol and aldosterone level.Taking the above into consideration, it is evident that repeatedly negative results on all three tests can present an extremely challenging case. In this report, we discuss a female who presented with an adrenal incidentaloma and features suggestive of primary hyperaldosteronism as well as Cushing's syndrome but no elevations in serum, urine, or salivary cortisol.In this study, we present a 37-year-old female with resistant hypertension and tachycardia. She had several features suggestive of Cushing's syndrome including resistant hypertension, proximal muscle weakness, weight gain, easy bruising, hair loss, and a history of tachycardia and chest pain. Examination revealed an obese female with thin silvery abdominal striae. The patient's labs revealed normal serum cortisol, urinefree cortisol (UFC), late-night salivary cortisol, and a normal dexamethasone suppression test. An abdominal computed tomography (CT) scan revealed a right adrenal mass measuring 2.1 x 1.5 x 2.5 cm. Due to a high index of suspicion, adrenal venous sampling was performed, which revealed high levels of cortisol and aldosterone in the right vein, confirming the diagnosis. The patient subsequently underwent a right adrenalectomy. She developed hypotension post-op, leading to the diagnosis of glucocorticoid-remediable aldosteronism.

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Section: Discussionmentioning

confidence: 99%

Rare Challenges in Diagnosing Cushing’s Syndrome and Primary Aldosteronism: A Case Report of a Female With a Negative Workup

Jatoi,

Haider-Badenhorst

2023

Cureus

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“…Although aggressive CD is frequently conceptualized as those patients with the largest, fastest growing, or most severely symptomatic adenomas, an interesting and oft overlooked CD cohort that may be at particularly high risk of NSS are those individuals who presented with symptomatically severe disease but initially negative neuroimaging studies, as in the present case. Few studies have specifically examined these patients; however, the propensity for a small population of neoplastic cells to generate extreme quantities of ACTH and therefore downstream corticosteroids may be an important index and an area for further investigation in the future-particularly when considering tumors that biochemically behave like true carcinomas even before the diagnosis of PC, as demonstrated by the lack of the expected response on high-dose dexamethasone suppression testing [18, 19]. With this in mind, we advise consideration for frequent MRI screening in all post-adrenalectomy patients with NSS, and in particular those who had negative pre-adrenalectomy sellar MRI studies - however, the appropriate long-term surveillance intervals remain an area for further study.…”

Section: Discussionmentioning

confidence: 99%

Nelson-Salassa Syndrome Progressing to Pituitary Carcinoma: A Case Report and Review of the Literature

Carlstrom

Graffeo

Perry

et al. 2019

Cureus

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Nelson-Salassa Syndrome (NSS) is a rare sequela of bilateral adrenalectomy as a treatment for persistent hypercortisolism in refractory Cushing disease (CD). Radiographic NSS has been observed in half of CD patients after adrenalectomy, yet often follows a mild course and rarely requires treatment. We present the case of a 44-year-old male with a history of CD who underwent primary treatments including transsphenoidal resection, radiotherapy, and bilateral adrenalectomy. He subsequently presented with acute vision loss and progressive somnolence. MRI revealed marked enlargement of an invasive sellar and suprasellar lesion exerting significant mass effect on the chiasm, and multiple new enhancing bony lesions. The patient was taken for emergent transsphenoidal resection and calvarial biopsy; visual function was restored postoperatively, and pathologic analysis confirmed pituitary carcinoma. While NSS typically follows an indolent course, pituitary carcinoma is a highly morbid metastatic disease, and has been theorized to occur at a higher frequency in the NSS population. We review all published cases of NSS to pituitary carcinoma progression, which further underscores the highly aggressive nature and considerable mortality of this patient cohort. Although mild, asymptomatic NSS is more commonly observed, symptomatic patients or those with rapid growth after adrenalectomy, should be targeted for routine close clinical follow-up and serial radiographic surveillance.

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Diagnosis of Cushing's disease in a patient with consistently normal urinary free cortisol levels: a case report

Cited by 2 publications

References 4 publications

Rare Challenges in Diagnosing Cushing’s Syndrome and Primary Aldosteronism: A Case Report of a Female With a Negative Workup

Rare Challenges in Diagnosing Cushing’s Syndrome and Primary Aldosteronism: A Case Report of a Female With a Negative Workup

Nelson-Salassa Syndrome Progressing to Pituitary Carcinoma: A Case Report and Review of the Literature

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