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Open access

Pheochromocytoma crisis precipitated by dexamethasone with profound lactic acidosis, but without severe hypertension

David Lin, Jai Madhok, Jason Bouhenguel, and Frederick Mihm

Summary

We describe a case of a 47-year-old patient who presented with severe lactic acidosis, troponinemia, and acute kidney injury after receiving 8 mg of intramuscular dexamethasone for seasonal allergies in the setting of an undiagnosed epinephrine-secreting pheochromocytoma. This case was atypical, however, in that the patient exhibited only mildly elevated noninvasive measured blood pressures. Following a period of alpha-adrenergic blockade, the tumor was resected successfully. Steroid administration can precipitate pheochromocytoma crisis that may present unusually as in our patient with mild hypertension but profound lactic acidosis.

Learning points

  • Steroids administered via any route can precipitate pheochromocytoma crisis, manifested by excessive catecholamine secretion and associated sequelae from vasoconstriction.

  • Lack of moderate/severe hypertension on presentation detracts from consideration of pheochromocytoma as a diagnosis.

  • Lactatemia after steroid administration should prompt work-up for pheochromocytoma, as it can be seen in epinephrine-secreting tumors.

  • Noninvasive blood pressure measurements may be unreliable during pheochromocytoma crisis due to excessive peripheral vasoconstriction.

DOI:
https://doi.org/10.1530/EDM-22-0306
Volume 2022: Issue 1
Open access

Bilateral adrenal masses due to tuberculosis: how to diagnose without extra-adrenal tuberculosis

Nam Quang Tran, Chien Cong Phan, Thao Thi Phuong Doan, and Thang Viet Tran

Summary

Primary adrenal insufficiency is a rare disease and can masquerade as other conditions; therefore, it is sometimes incorrectly diagnosed. Herein, we reported the case of a 39-year-old Vietnamese male with primary adrenal insufficiency due to bilateral adrenal tuberculosis. The patient presented to the emergency room with acute adrenal crisis and a 3-day history of nausea, vomiting, epigastric pain, and diarrhoea with a background of 6 months of fatigue, weight loss, and anorexia. Abdominal CT revealed bilateral adrenal masses. Biochemically, unequivocal low morning plasma cortisol (<83 nmol/L) and high plasma adrenocorticotropic hormone levels were consistent with primary adrenal insufficiency. There was no evidence of malignancy or lymphoma. As the patient was from a tuberculosis-endemic area, extra-adrenal tuberculosis was excluded during the work up. A retroperitoneal laparoscopic left adrenalectomy was performed, and tuberculous adrenalitis was confirmed by the histopathological results. The patient was started on antituberculous therapy, in addition to glucocorticoid replacement. In conclusion, even without evidence of extra-adrenal tuberculosis, a diagnosis of bilateral adrenal tuberculosis is required. A histopathological examination has a significant role along with clinical judgement and hormonal workup in establishing a definitive diagnosis of adrenal tuberculosis without evidence of active extra-adrenal involvement.

Learning points

  • Primary adrenal insufficiency can be misdiagnosed as other mimicking diseases, such as gastrointestinal illness, leading to diagnostic pitfalls.

  • Adrenal insufficiency can be confirmed with significantly low morning plasma cortisol levels of <83 nmol/L without a dynamic short cosyntropin stimulation test.

  • Tuberculous adrenalitis is an uncommon treatable condition; however, it remains an important cause of primary adrenal insufficiency, especially in developing countries. In the absence of extra-adrenal involvement, adrenal biopsy plays a key role in the diagnostic process. Alternatively, adrenalectomy for histopathological purposes should be considered if CT scan-guided fine needle aspiration is infeasible in cases of small adrenal masses.

DOI:
https://doi.org/10.1530/EDM-21-0093
Volume 2021: Issue 1
Open access

ABCD1 gene mutation in an Italian family with X-linkedadrenoleukodystrophy: case series

Angelika Mohn, Nella Polidori, Chiara Aiello, Cristiano Rizzo, Cosimo Giannini, Francesco Chiarelli, and Marco Cappa

Summary

Adrenoleukodystrophy is a peroxisomal X-linked recessive disease caused by mutations in the ABCD1 gene, located on the X-chromosome (Xq28). Gene mutations in patient with adrenoleukodystrophy induce metabolic alterations characterized by impaired peroxisomal beta-oxidation and accumulation of very long chain fatty acid (VLCFA) in plasma and in all tissues. Although nutritional intervention associated with a various mixture of oil prevents the accumulation of VLCFA, to date no causal treatment is available. Therefore, haematopoietic stem cell transplantation (HSCT) and gene therapy are allowed only for very early stages of cerebral forms diagnosed during childhood.We reported a case series describing five family members affected by X-linked adrenoleukodystrophy caused by a novel mutation of the ABCD1 gene. Particularly, three brothers were affected while the sister and mother carried the mutation of the ABCD1 gene. In this family, the disease was diagnosed at different ages and with different clinical pictures highlighting the wide range of phenotypes related to this novel mutation. In addition, these characteristics stress the relevant role of early diagnosis to properly set a patient-based follow-up.

Learning points

  • We report a novel mutation in the ABCD1 gene documented in a family group associated to an X-ALD possible Addison only phenotype.

  • All patients present just Addison disease but with different phenotypes despite the presence of the same mutations. Further follow-up is necessary to complete discuss the clinical development.

  • The diagnosis of ALD needs to be included in the differential diagnosis in all patients with idiopathic PAI through accurate evaluation of VLCFA concentrations and genetic confirmation testing.

  • Early diagnosis of neurological manifestation is important in order to refer timely to HSCT.

  • Further follow-up of these family members is necessary to characterize the final phenotype associated with this new mutation.

DOI:
https://doi.org/10.1530/EDM-20-0125
Volume 2021: Issue 1
Open access

Giant bilateral adrenal lipoma in a patient with congenital adrenal hyperplasia

Tina Kienitz, Jörg Schwander, Ulrich Bogner, Michael Schwabe, Thomas Steinmüller, and Marcus Quinkler

Summary

Apart from adrenal myelolipomas, adrenal lipomatous tumors are rare and only seldom described in the literature. We present the case of a 50-year-old man, with a classical form of congenital adrenal hyperplasia (CAH), which was well treated with prednisolone and fludrocortisone. The patient presented with pollakisuria and shortness of breath while bending over. On MRI, fat-equivalent masses were found in the abdomen (14 × 19 × 11 cm on the right side and 10 × 11 × 6 cm on the left side). The right adrenal mass was resected during open laparotomy and the pathohistological examination revealed the diagnosis of an adrenal lipoma. Symptoms were subdued totally postoperatively. This is the first report of a bilateral adrenal lipoma in a patient with CAH that we are aware of.

Learning points:

  • Macronodular hyperplasia is common in patients with congenital adrenal hyperplasia (CAH).

  • Solitary adrenal tumors appear in approximately 10% of adult CAH patients and are often benign myelolipomas.

  • The Endocrine Society Clinical Practice Guideline does not recommend routine adrenal imaging in adult CAH patients.

  • Adrenal imaging should be performed in CAH patients with clinical signs for an adrenal or abdominal mass.

  • Adrenal lipoma is rare and histopathological examinations should rule out a differentiated liposarcoma.

DOI:
https://doi.org/10.1530/EDM-20-0204
Volume 2021: Issue 1
Open access

Hyponatremia presenting with hourly fluctuating urine osmolality

Raku Son, Masahiko Nagahama, Fumiaki Tanemoto, Yugo Ito, Fumika Taki, Ryosuke Tsugitomi, and Masaaki Nakayama

Summary

The etiology of hyponatremia is assessed based on urine osmolality and sodium. We herein describe a 35-year-old Asian man with pulmonary tuberculosis and perforated duodenal ulcer who presented with hyponatremia with hourly fluctuating urine osmolality ranging from 100 to 600 mosmol/kg, which resembled urine osmolality observed in typical polydipsia and SIADH simultaneously. Further review revealed correlation of body temperature and urine osmolality. Since fever is a known non-osmotic stimulus of ADH secretion, we theorized that hyponatremia in this patient was due to transient ADH secretion due to fever. In our case, empiric exogenous glucocorticoid suppressed transient non-osmotic ADH secretion and urine osmolality showed highly variable concentrations. Transient ADH secretion-related hyponatremia may be underrecognized due to occasional empiric glucocorticoid administration in patients with critical illnesses. Repeatedly monitoring of urine chemistries and interpretation of urine chemistries with careful review of non-osmotic stimuli of ADH including fever is crucial in recognition of this etiology.

Learning points:

  • Hourly fluctuations in urine osmolality can be observed in patients with fever, which is a non-osmotic stimulant of ADH secretion.

  • Repeated monitoring of urine chemistries aids in the diagnosis of the etiology underlying hyponatremia, including fever, in patients with transient ADH secretion.

  • Glucocorticoid administration suppresses ADH secretion and improves hyponatremia even in the absence of adrenal insufficiency; the etiology of hyponatremia should be determined carefully in these patients.

DOI:
https://doi.org/10.1530/EDM-19-0155
Volume 2020: Issue 1
Open access

Bilateral pheochromocytoma after kidney transplantation in neurofibromatosis type 1

Valeria de Miguel, Andrea Paissan, Patricio García Marchiñena, Alberto Jurado, Mariana Isola, José Alfie, and Patricia Fainstein-Day

Summary

We present the case of a 25-year-old male with a history of neurofibromatosis type 1 and bilateral pheochromocytoma 4 years after kidney transplantation that was successfully treated with simultaneous bilateral posterior retroperitoneoscopic adrenalectomy.

Learning points:

  • Hypertensive patients with NF1 should always be screened for pheochromocytoma.

  • Pheochromocytoma is rarely associated with transplantation, but it must be ruled out in patients with genetic susceptibility.

  • Posterior retroperitoneoscopic adrenalectomy (PRA) allows more direct access to the adrenal glands, especially in patients with previous abdominal surgeries.

DOI:
https://doi.org/10.1530/EDM-18-0162
Volume 2019: Issue 1
Open access

Adrenal insufficiency in acute oral opiate therapy

Caterina Policola, Victoria Stokes, Niki Karavitaki, and Ashley Grossman

Summary

Opiate drugs such as morphine are in extensive use for pain relief and palliation. It is well established that these drugs can cause changes in endocrine function, but such effects are not always sufficiently appreciated in clinical practice, especially in relation to the hypothalamic–pituitary–adrenal (HPA) axis. Herein, we report on an 18-year-old man who was diagnosed with a slipped left femoral epiphysis following a long history of pain in his leg. On examination, he was thought to look relatively young for his age and therefore the orthopaedic surgeons arranged an endocrine assessment, which showed an undetectable concentration of serum cortisol and a suppressed concentration of testosterone; therefore, he was referred urgently with a diagnosis of hypopituitarism. We elicited a history that he had been treated with opiate analgesics for 3 days at the time of his original blood tests. Full endocrine assessment including a short Synacthen test revealed that he now had normal adrenal and pituitary function. We conclude that his morphine therapy had caused profound suppression of his HPA and pituitary–gonadal axes and suggest that clinicians should be aware of these significant changes in patients on even short-term opiate therapy.

Learning points

  • Therapy with opiates is the standard therapy for severe acute and chronic pain.

  • Such drugs cause profound changes in endocrine function.

  • Importantly, opiates suppress the HPA axis at a central level.

  • Short-term therapy with morphine could be the cause of biochemical adrenocortical insufficiency.

  • Morphine and related drugs also suppress the pituitary–gonadal axis.

  • After discontinuation of therapy with such drugs, adrenal function improves.

DOI:
https://doi.org/10.1530/EDM-13-0071
Volume 2014: Issue 1