Browse
Search for other papers by David Lin in
Google Scholar
PubMed
Search for other papers by Jai Madhok in
Google Scholar
PubMed
Search for other papers by Jason Bouhenguel in
Google Scholar
PubMed
Search for other papers by Frederick Mihm in
Google Scholar
PubMed
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.
Department of Endocrinology, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam
Search for other papers by Nam Quang Tran in
Google Scholar
PubMed
Search for other papers by Chien Cong Phan in
Google Scholar
PubMed
Search for other papers by Thao Thi Phuong Doan in
Google Scholar
PubMed
Department of Endocrinology, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam
Search for other papers by Thang Viet Tran in
Google Scholar
PubMed
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.
Search for other papers by Angelika Mohn in
Google Scholar
PubMed
Search for other papers by Nella Polidori in
Google Scholar
PubMed
Search for other papers by Chiara Aiello in
Google Scholar
PubMed
Search for other papers by Cristiano Rizzo in
Google Scholar
PubMed
Search for other papers by Cosimo Giannini in
Google Scholar
PubMed
Search for other papers by Francesco Chiarelli in
Google Scholar
PubMed
Search for other papers by Marco Cappa in
Google Scholar
PubMed
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.
Search for other papers by Tina Kienitz in
Google Scholar
PubMed
Search for other papers by Jörg Schwander in
Google Scholar
PubMed
Search for other papers by Ulrich Bogner in
Google Scholar
PubMed
Search for other papers by Michael Schwabe in
Google Scholar
PubMed
Search for other papers by Thomas Steinmüller in
Google Scholar
PubMed
Search for other papers by Marcus Quinkler in
Google Scholar
PubMed
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.
Search for other papers by Raku Son in
Google Scholar
PubMed
Search for other papers by Masahiko Nagahama in
Google Scholar
PubMed
Search for other papers by Fumiaki Tanemoto in
Google Scholar
PubMed
Search for other papers by Yugo Ito in
Google Scholar
PubMed
Search for other papers by Fumika Taki in
Google Scholar
PubMed
Search for other papers by Ryosuke Tsugitomi in
Google Scholar
PubMed
Search for other papers by Masaaki Nakayama in
Google Scholar
PubMed
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.
Search for other papers by Valeria de Miguel in
Google Scholar
PubMed
Search for other papers by Andrea Paissan in
Google Scholar
PubMed
Search for other papers by Patricio García Marchiñena in
Google Scholar
PubMed
Search for other papers by Alberto Jurado in
Google Scholar
PubMed
Search for other papers by Mariana Isola in
Google Scholar
PubMed
Search for other papers by José Alfie in
Google Scholar
PubMed
Search for other papers by Patricia Fainstein-Day in
Google Scholar
PubMed
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.
Search for other papers by Catherine D Zhang in
Google Scholar
PubMed
Search for other papers by Pavel N Pichurin in
Google Scholar
PubMed
Search for other papers by Aleh Bobr in
Google Scholar
PubMed
Search for other papers by Melanie L Lyden in
Google Scholar
PubMed
Search for other papers by William F Young Jr in
Google Scholar
PubMed
Search for other papers by Irina Bancos in
Google Scholar
PubMed
Summary
Carney complex (CNC) is a rare multiple neoplasia syndrome characterized by spotty pigmentation of the skin and mucosa in association with various non-endocrine and endocrine tumors, including primary pigmented nodular adrenocortical disease (PPNAD). A 20-year-old woman was referred for suspected Cushing syndrome. She had signs of cortisol excess as well as skin lentigines on physical examination. Biochemical investigation was suggestive of corticotropin (ACTH)-independent Cushing syndrome. Unenhanced computed tomography scan of the abdomen did not reveal an obvious adrenal mass. She subsequently underwent bilateral laparoscopic adrenalectomy, and histopathology was consistent with PPNAD. Genetic testing revealed a novel frameshift pathogenic variant c.488delC/p.Thr163MetfsX2 (ClinVar Variation ID: 424516) in the PRKAR1A gene, consistent with clinical suspicion for CNC. Evaluation for other clinical features of the complex was unrevealing. We present a case of PPNAD-associated Cushing syndrome leading to the diagnosis of CNC due to a novel PRKAR1A pathogenic variant.
Learning points:
-
PPNAD should be considered in the differential for ACTH-independent Cushing syndrome, especially when adrenal imaging appears normal.
-
The diagnosis of PPNAD should prompt screening for CNC.
-
CNC is a rare multiple neoplasia syndrome caused by inactivating pathogenic variants in the PRKAR1A gene.
-
Timely diagnosis of CNC and careful surveillance can help prevent potentially fatal complications of the disease.
Search for other papers by Natasha Shrikrishnapalasuriyar in
Google Scholar
PubMed
Search for other papers by Mirena Noyvirt in
Google Scholar
PubMed
Search for other papers by Philip Evans in
Google Scholar
PubMed
Search for other papers by Bethan Gibson in
Google Scholar
PubMed
Search for other papers by Elin Foden in
Google Scholar
PubMed
Search for other papers by Atul Kalhan in
Google Scholar
PubMed
A 54-year-old woman was admitted to hospital with a presumed allergic reaction to a single dose of amoxicillin given for a suspected upper respiratory tract infection. She complained of chest tightness although there was no wheeze or stridor. On examination, she was pyrexial, tachycardic, hypertensive and had a diffuse mottled rash on her lower limbs. Her initial investigations showed raised inflammatory markers. She was treated in the intensive care for a presumed anaphylactic reaction with an underlying sepsis. Further investigations including CT head and CSF examination were unremarkable; however, a CT abdomen showed a 10 cm heterogeneous right adrenal mass. Based on review by the endocrine team, a diagnosis of pheochromocytoma crisis was made, which was subsequently confirmed on 24-h urinary metanephrine measurement. An emergency adrenalectomy was considered although she was deemed unfit for surgery. Despite intensive medical management, her conditioned deteriorated and she died secondary to multi-organ failure induced by pheochromocytoma crisis.
Learning points:
-
Pheochromocytoma have relatively higher prevalence in autopsy series (0.05–1%) suggestive of a diagnosis, which is often missed.
-
Pheochromocytoma crisis is an endocrine emergency characterized by hemodynamic instability induced by surge of catecholamines often precipitated by trauma and medications (β blockers, general anesthetic agents, ephedrine and steroids).
-
Pheochromocytoma crisis can mimic acute coronary syndrome, cardiogenic or septic shock.
-
Livedo reticularis can be a rare although significant cutaneous marker of underlying pheochromocytoma crisis.
Search for other papers by Lukas Burget in
Google Scholar
PubMed
Search for other papers by Laura Audí Parera in
Google Scholar
PubMed
Search for other papers by Monica Fernandez-Cancio in
Google Scholar
PubMed
Search for other papers by Rolf Gräni in
Google Scholar
PubMed
Search for other papers by Christoph Henzen in
Google Scholar
PubMed
Search for other papers by Christa E Flück in
Google Scholar
PubMed
Summary
Steroidogenic acute regulatory protein (STAR) is a key protein for the intracellular transport of cholesterol to the mitochondrium in endocrine organs (e.g. adrenal gland, ovaries, testes) and essential for the synthesis of all steroid hormones. Several mutations have been described and the clinical phenotype varies strongly and may be grouped into classic lipoid congenital adrenal hyperplasia (LCAH), in which all steroidogenesis is disrupted, and non-classic LCAH, which resembles familial glucocorticoid deficiency (FGD), which affects predominantly adrenal functions. Classic LCAH is characterized by early and potentially life-threatening manifestation of primary adrenal insufficiency (PAI) with electrolyte disturbances and 46,XY disorder of sex development (DSD) in males as well as lack of pubertal development in both sexes. Non-classic LCAH manifests usually later in life with PAI. Nevertheless, life-long follow-up of gonadal function is warranted. We describe a 26-year-old female patient who was diagnosed with PAI early in life without detailed diagnostic work-up. At the age of 14 months, she presented with hyperpigmentation, elevated ACTH and low cortisol levels. As her older brother was diagnosed with PAI two years earlier, she was put on hydrocortisone and fludrocortisone replacement therapy before an Addisonian crisis occurred. Upon review of her case in adulthood, consanguinity was noted in the family. Genetic analysis for PAI revealed a homozygous mutation in the STAR gene (c.562C>T, p.Arg188Cys) in both siblings. This mutation has been previously described in non-classic LCAH. This case illustrates that early onset, familial PAI is likely due to autosomal recessive genetic mutations in known genes causing PAI.
Learning points:
-
In childhood-onset PAI, a genetic cause is most likely, especially in families with consanguinity.
-
Adult patients with an etiologically unsolved PAI should be reviewed repeatedly and genetic work-up should be considered.
-
Knowing the exact genetic diagnosis in PAI is essential for genetic counselling and may allow disease-specific treatment.
-
Young men and women with NCLAH due to homozygous STAR Arg188Cys mutation should be investigated for their gonadal function as hypogonadism and infertility might occur during puberty or in early adulthood.
Max Planck Institute of Psychiatry, Clinical Neuroendocrinology Group, Munich, Germany
Search for other papers by Anna Kopczak in
Google Scholar
PubMed
Search for other papers by Adrian-Minh Schumacher in
Google Scholar
PubMed
Search for other papers by Sandra Nischwitz in
Google Scholar
PubMed
Search for other papers by Tania Kümpfel in
Google Scholar
PubMed
Search for other papers by Günter K Stalla in
Google Scholar
PubMed
Search for other papers by Matthias K Auer in
Google Scholar
PubMed
Summary
The autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED) syndrome is a genetic disorder caused by a mutation in the autoimmune regulator (AIRE) gene. Immune deficiency, hypoparathyroidism and Addison’s disease due to autoimmune dysfunction are the major clinical signs of APECED. We report on a 21-year-old female APECED patient with two inactivating mutations in the AIRE gene. She presented with sudden onset of periodic nausea. Adrenal insufficiency was diagnosed by means of the ACTH stimulation test. Despite initiation of hormone replacement therapy with hydrocortisone and fludrocortisone, nausea persisted and the patient developed cognitive deficits and a loss of interest which led to the diagnosis of depression. She was admitted to the psychiatric department for further diagnostic assessment. An EEG showed a focal epileptic pattern. Glutamic acid decarboxylase (GAD) antibodies, which had been negative eight years earlier, were now elevated in serum and in the cerebrospinal fluid. Oligoclonal bands were positive indicating an inflammatory process with intrathecal antibody production in the central nervous system (CNS). The periodic nausea was identified as dialeptic seizures, which clinically presented as gastrointestinal aura followed by episodes of reduced consciousness that occurred about 3–4 times per day. GAD antibody-associated limbic encephalitis (LE) was diagnosed. Besides antiepileptic therapy, an immunosuppressive treatment with corticosteroids was initiated followed by azathioprine. The presence of nausea and vomiting in endocrine patients with autoimmune disorders is indicative of adrenal insufficiency. However, our case report shows that episodic nausea may be a symptom of epileptic seizures due to GAD antibodies-associated LE in patients with APECED.
Learning points:
-
Episodic nausea cannot only be a sign of Addison’s disease, but can also be caused by epileptic seizures with gastrointestinal aura due to limbic encephalitis.
-
GAD antibodies are not only found in diabetes mellitus type 1, but they are also associated with autoimmune limbic encephalitis and can appear over time.
-
Limbic encephalitis can be another manifestation of autoimmune disease in patients with APECED/APS-1 that presents over the time course of the disease.
