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Summary
Neonatal adrenal hemorrhage (NAH) occurs in up to 3% of infants and is the most common adrenal mass in newborns. The most common presentation of NAH is an asymptomatic palpable flank mass which resolves over time without intervention. In rare cases, NAH can present as hemorrhage, shock, or adrenal insufficiency. This case describes a preterm infant born with severe anemia in the setting of bilateral adrenal hemorrhages with resulting adrenal insufficiency. The infant was successfully treated with blood transfusions and steroids. This is a unique presentation of NAH as it was bilateral, presented with severe anemia, and resulted in prolonged adrenal insufficiency.
Learning points
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Consider adrenal hemorrhage for cases of severe anemia at birth.
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Adrenal insufficiency is a rare complication of adrenal hemorrhage.
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Adrenal recovery can take months, if not years.
Search for other papers by Rahim Karim Damji in
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Department of Biochemistry, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania
Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands
Tanzania Human Genetics Organization, Dar es Salaam, Tanzania
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Summary
Pathogenic variants in the nuclear receptor subfamily 5 group A member 1 gene (NR5A1), which encodes steroidogenic factor 1 (SF1), result in 46,XY and 46,XX differences of sex development (DSD). In 46,XY individuals with a pathogenic variant in the NR5A1 gene a variable phenotype ranging from mild to severe is seen, including adrenal failure, testis dysgenesis, androgen synthesis defects, hypospadias and anorchia with microphallus and infertility. We report the clinical, endocrinological and genetic characteristics of a patient with 46,XY DSD with a novel likely pathogenic missense variant in the NR5A1 gene. A retrospective evaluation of the medical history, physical examination, limited endocrinological laboratory analysis and genetic analysis with DSD gene panel testing was performed. A 1.5-month-old individual was referred with ambiguous genitalia. The karyotype was 46,XY. The endocrinological analyses were within normal male reference including a normal response of cortisol within an adrenocorticotropic hormone test. A novel heterozygous missense variant c.206G>C p.(Arg69Pro) in the NR5A1 gene was detected. This variant was present in mosaic form (~20%) in his unaffected father. Because another missense variant at the same position and other missense variants involving the same highly conserved codon have been reported, we consider this NR5A1 variant in this 46,XY DSD patient as likely pathogenic in accordance with the ACMG/AMP 2015 guidelines causing ambiguous genitalia but no adrenal insufficiency. This variant was inherited from the apparently unaffected mosaic father, which might have implications for the recurrence risk in this family.
Learning points
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The importance of performing trio (patient and parents) sequencing is crucial in pointing out the origin of inheritance.
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In a 46,XY differences of sex development patient, a normal adrenal function does not rule out an NR5A1 mutation.
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With the support of a dedicated overseas institute partnership, we could solve this complex clinical case by molecular diagnosis in a resource-limited setting.
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Diabetes and Metabolism Information Center, Diabetes Research Center, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan
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Diabetes and Metabolism Information Center, Diabetes Research Center, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan
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Department of Molecular Diabetic Medicine, Diabetes Research Center, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan
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Summary
A 47-year-old man was diagnosed with a left adrenal incidentaloma at 40 years of age. The tumor had irregular margins and grew from 18 mm to 30 mm in maximum diameter over 7 years. On computed tomography scan, the mass appeared to localize within the tip of the lateral limb of the left adrenal gland, and between the left adrenal gland and the posterior wall of the stomach. The plasma corticotropin and cortisol concentrations and the 24-h urine fractionated metanephrine levels were normal. 123I-metaiodobenzylguanidine scintigraphy showed tumor avidity consistent with a hormonally inactive pheochromocytoma. A laparoscopic left adrenalectomy was performed; however, no tumor was present in the resected specimen. Abdominal computed tomography postoperatively showed that the tumor remained intact and appeared to connect to the posterior wall of the stomach. A laparotomy was performed and the tumor was removed. The tumor was localized to the intraperitoneal space and isolated from the posterior wall of the stomach. The pathological diagnosis was a gastrointestinal stromal tumor. Clinicians need to be aware of the limitations of diagnostic imaging studies in diagnosing non-functioning adrenal incidentalomas, which require a pathological analysis for the final diagnosis. Moreover, clinicians need to provide patients with sufficient informed consent when deciding on treatment strategies.
Learning points
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Anatomic structures and tumors that develop in neighboring tissues to the adrenal glands may be confused with primary adrenal tumors.
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123I- metaiodobenzylguanidine (MIBG) scintigraphy is specific for diagnosing pheochromocytomas and paragangliomas; however, it has been reported that 123I-MIBG may accumulate in neuroendocrine tumors as well as other tumors.
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Clinicians should recognize the limitations of imaging studies and the uncertainty of an imaging-based preoperative diagnosis.
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Center for Diabetes and Endocrine Research, University of Toledo College of Medicine and Life Sciences, Toledo, Ohio, USA
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Summary
Large-cell neuroendocrine carcinoma (LCNEC) is a rare neuroendocrine prostatic malignancy. It usually arises after androgen deprivation therapy (ADT), while de novo cases are even more infrequent, with only six cases described. The patient was a 78-year-old man with no history of ADT who presented with cervical lymphadenopathy. Diagnostic approaches included PET/CT, MRI, CT scans, ultrasonography, biopsies, and cytological and immunohistochemical evaluations. Results showed a poorly differentiated carcinoma in the thyroid gland accompanied by cervical lymph node enlargement. Thyroid surgery revealed LCNEC metastasis to the thyroid gland. Additional metastases were identified in both the adrenal glands. Despite appropriate treatment, the patient died of the disease. De novo LCNEC of the prostate is a rare, highly aggressive tumor with a poor prognosis. It is resistant to most therapeutic agents, has a high metastatic potential, and is usually diagnosed at an advanced stage. Further studies are required to characterize this tumor.
Learning points
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De novo LCNECs of the prostate gland can metastasize almost anywhere in the body, including the thyroid and adrenal glands.
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LCNECs of the prostate are usually associated with androgen-depriving therapy, but de novo cases are also notable and should be accounted for.
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Further studies are required to fully understand and treat LCNECs more effectively.
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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
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Steroids administered via any route can precipitate pheochromocytoma crisis, manifested by excessive catecholamine secretion and associated sequelae from vasoconstriction.
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Lack of moderate/severe hypertension on presentation detracts from consideration of pheochromocytoma as a diagnosis.
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Lactatemia after steroid administration should prompt work-up for pheochromocytoma, as it can be seen in epinephrine-secreting tumors.
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Noninvasive blood pressure measurements may be unreliable during pheochromocytoma crisis due to excessive peripheral vasoconstriction.
Institute of Radiology, University of Padova, Padova, Italy
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Endocrine Disease Unit, University of Padova, Padova, Italy
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Nuclear Medicine Unit, University-Hospital of Padova, Padova, Italy
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Endocrine Disease Unit, University of Padova, Padova, Italy
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Summary
A 61-year-old man went to the Emergency Department with left upper abdominal quadrant pain and low-grade fever, as well as a loss of weight (3 kg in 6 weeks). A solid-cystic lesion in the left adrenal lodge was discovered by abdominal ultrasonography. A slight increase in the serum amylase with normal lipase was observed, but there were no signs or symptoms of pancreatitis. A contrast-enhanced CT revealed a tumor that was suspected of adrenocortical cancer. Therefore, he was referred to the endocrine unit. The hormonal evaluation revealed no signs of excessive or inadequate adrenal secretion. To characterize the mass, an MRI was performed; the lesion showed an inhomogeneous fluid collection with peripheral wall contrast-enhancement, as well as a minor 18-fluorodeoxyglucose uptake at PET/CT images. The risk of primary adrenal cancer was minimal after the multidisciplinary discussion. An acute necrotic collection after focal pancreatitis was suspected, according to the characteristics of imaging. Both CT-guided drainage of the necrotic accumulation and laboratory analysis of the aspirated fluid confirmed the diagnosis.
Learning points
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Different types of expansive processes can mimic adrenal incidentalomas.
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Necrotic collection after acute focal pancreatitis could be misdiagnosed as an adrenal mass, since its CT characteristics could be equivocal.
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MRI has stronger capacities than CT in differentiating complex lesions of the adrenal lodge.
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A multidisciplinary approach is fundamental in the management of patients with a newly discovered adrenal incidentaloma and equivocal/suspicious imaging features (low lipid content and size >4 cm).
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Department of Medicine, Monash University, Melbourne, Australia
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Department of Medicine, Monash University, Melbourne, Australia
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Summary
Adrenal gland haemorrhage is an uncommon, yet likely under-diagnosed complication of high-impact trauma, such as motor vehicle accidents (MVA). It usually occurs with multi-trauma and is associated with additional injuries to the ribs, liver, kidney, spleen and vertebrae. Trauma cases with resultant adrenal gland injury have higher mortality rates. Primary adrenal insufficiency as a result of bilateral adrenal haemorrhage is potentially fatal. We report three cases of life-threatening adrenal insufficiency following adrenal injuries sustained in MVA’s. Case 1 was a 60-year-old-male who presented with acute haemodynamic instability on admission. Case 2 was an 88-year-old female on anticoagulation for atrial fibrillation, who developed haemodynamic instability 10 days into her admission. Case 3 was a 46-year-old male who developed hyponatraemia 2 weeks post-MVA. All were commenced on stress dose hydrocortisone replacement with improvement in clinical status. Only case 1 has had complete adrenal axis recovery, whereas the other patients remain on maintenance hydrocortisone replacement. Our cases demonstrate acute and subacute presentations of adrenal insufficiency following traumatic bilateral adrenal haemorrhages and highlight the importance of assessing adrenal morphology and function in any trauma patient with haemodynamic instability or hyponatraemia.
Learning points
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Adrenal gland haemorrhage is an under-diagnosed consequence of high-impact trauma.
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Trauma patients with adrenal haemorrhage have a significantly increased mortality risk.
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Bilateral adrenal gland haemorrhage can result in life-threatening adrenal insufficiency requiring urgent glucocorticoid replacement.
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Biochemical assessment of the adrenocortical axis should be considered in all patients presenting with high-impact trauma following motor vehicle accidents.
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Given the potential for delayed presentation, any patients with new haemodynamic instability should have repeat biochemistry and/or imaging performed, even if initial adrenal imaging and investigations were normal.
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Department of Clinical Medicine, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka
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Summary
Long-term use of exogenous glucocorticoids leads to the suppression of the hypothalamic–pituitary–adrenal axis. Therefore, if the glucocorticoid is withdrawn abruptly, patients will develop adrenal insufficiency. Hypercalcaemia is a rare but well-known complication of adrenal insufficiency. However, hypercalcaemia is a rare presentation of glucocorticoid-induced adrenal insufficiency (GI-AI). A 62-year-old patient with a past history of diabetes mellitus, ischaemic heart disease, stroke, hypertension and dyslipidaemia presented with polyuria, loss of appetite, malaise and vomiting for a duration of 2 months. His ionized calcium level was high at 1.47 mmol/L. Intact parathyroid hormone was suppressed (4.3 pg/mL) and vitamin D was in the insufficient range (24.6 ng/mL). Extensive evaluation for solid organ or haematological malignancy including contrast-enhanced CT chest, abdomen, pelvis, multiple myeloma workup and multiple tumour markers were negative. His synacthan-stimulated cortisol was undetectable thus confirming adrenal insufficiency. His adrenocorticotrophic hormone level was 3.82 pg/mL (4.7–48.8) excluding primary adrenal insufficiency. His MRI brain and other pituitary hormones were normal. Further inquiry revealed that the patient had taken over-the-counter dexamethasone on a regular basis for allergic rhinitis for more than 2 years and had stopped 2 weeks prior to the onset of symptoms. Therefore, a diagnosis of GI-AI leading to hypercalcemia was made. The patient was resuscitated with intravenous fluids and replacement doses of oral hydrocortisone were started with a plan of prolonged tailing off to allow the endogenous adrenal function to recover. His calcium normalized and he made a complete recovery.
Learning points
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Long-term use of glucocorticoids leads to the suppression of the hypothalamic–pituitary–adrenal axis.
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If the glucocorticoid is withdrawn abruptly, patients will develop adrenal insufficiency which is known as glucocorticoid-induced adrenal insufficiency.
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Adrenal insufficiency should be considered in the differential diagnosis of parathyroid hormone-independent hypercalcaemia.
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A thorough clinical history is of paramount importance in arriving at the correct diagnosis.
Department of Endocrinology, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam
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Department of Endocrinology, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam
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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
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Primary adrenal insufficiency can be misdiagnosed as other mimicking diseases, such as gastrointestinal illness, leading to diagnostic pitfalls.
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Adrenal insufficiency can be confirmed with significantly low morning plasma cortisol levels of <83 nmol/L without a dynamic short cosyntropin stimulation test.
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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.
Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia
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Department of Medicine, Monash University, Victoria, Australia
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Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia
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Summary
Primary aldosteronism is one of the most common (affecting up to 10%) yet treatable causes of hypertension in our community, notable due to an associated elevated risk of atrial fibrillation, stroke and myocardial infarction compared to essential hypertension. Guidelines have focussed on improving case detection due to significant underdiagnosis in the community. While our case experienced significant delay in diagnosis, we highlight a state of protracted, persistent post-operative hypoaldosteronism which manifested with severe hyponatraemia and hyperkalaemia, necessitating long-term mineralocorticoid replacement. We discuss whether pre-operative mineralocorticoid receptor antagonists to stimulate aldosterone secretion from the contralateral gland may have prevented this complication.
Learning points
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Hypoaldosteronism is an uncommon complication of adrenalectomy for primary aldosteronism, typically manifesting with hyperkalaemia and hyponatraemia. While most cases are transient, it may be persistent, necessitating ongoing mineralocorticoid replacement.
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Routine electrolyte monitoring is recommended post-adrenalectomy.
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Risk factors for hypoaldosteronism include age >50 years, duration of hypertension >10 years, pre-existing renal impairment and adrenal adenoma size >2 cm.
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Mineralocorticoid receptor antagonists may assist in the management of hypokalaemia and hypertension pre-operatively. However, it is unclear whether this reduces the risk of post-operative hypoaldosteronism.
