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Ahmad Housin Division of Endocrinology, Department of Medicine

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Marc P Pusztaszeri Department of Pathology, Jewish General Hospital, McGill University, Montreal, Quebec, Canada

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Michael Tamilia Division of Endocrinology, Department of Medicine

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Summary

Fever of unknown origin is a commonly encountered medical problem. Most common causes include infections, malignancy, and connective tissue diseases. Endocrine causes are rare but are well documented. While fever is common in some endocrine disorders, fever of unknown origin as the sole presenting feature is very rare. We describe a case report of a 63-year-old male who presents with fever of unknown origin. Imaging and biopsy results confirmed the diagnosis of subacute thyroiditis. He was started on prednisone with a good response. We conclude that subacute thyroiditis should be considered in the work up of fever of unknown origin even in the absence of classical signs and symptoms.

Learning points:

  • Fever of unknown origin is a rare sole presentation of subacute thyroiditis.

  • The classic signs and symptoms may not be manifest at the time of presentation.

  • Normal thyroid function tests and elevated markers of inflammation often make infections, malignancy and autoinflammatory conditions the prime consideration.

  • Imaging of the thyroid gland may point to a morphologic aberration and prompt a thyroid biopsy.

  • After exclusion of infection, a rapid response to steroids may be both diagnostic and therapeutic.

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Agnieszka Łebkowska Department of Internal Medicine and Metabolic Diseases, Diabetology and Internal Medicine

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Anna Krentowska Department of Internal Medicine and Metabolic Diseases, Diabetology and Internal Medicine

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Agnieszka Adamska Department of Endocrinology, Diabetology and Internal Medicine

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Danuta Lipińska Department of Endocrinology, Diabetology and Internal Medicine

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Beata Piasecka Department of Endocrinology, Diabetology and Internal Medicine

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Otylia Kowal-Bielecka Department of Rheumatology and Internal Diseases, Medical University of Bialystok, Bialystok, Poland

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Maria Górska Department of Endocrinology, Diabetology and Internal Medicine

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Robert K Semple Centre for Cardiovascular Science, Queen’s Medical Research Institute, University of Edinburgh, Edinburgh, UK

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Irina Kowalska Department of Internal Medicine and Metabolic Diseases, Diabetology and Internal Medicine

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Summary

Type B insulin resistance syndrome (TBIR) is characterised by the rapid onset of severe insulin resistance due to circulating anti-insulin receptor antibodies (AIRAs). Widespread acanthosis nigricans is normally seen, and co-occurrence with other autoimmune diseases is common. We report a 27-year-old Caucasian man with psoriasis and connective tissue disease who presented with unexplained rapid weight loss, severe acanthosis nigricans, and hyperglycaemia punctuated by fasting hypoglycaemia. Severe insulin resistance was confirmed by hyperinsulinaemic euglycaemic clamping, and immunoprecipitation assay demonstrated AIRAs, confirming TBIR. Treatment with corticosteroids, metformin and hydroxychloroquine allowed withdrawal of insulin therapy, with stabilisation of glycaemia and diminished signs of insulin resistance; however, morning fasting hypoglycaemic episodes persisted. Over three years of follow-up, metabolic control remained satisfactory on a regimen of metformin, hydroxychloroquine and methotrexate; however, psoriatic arthritis developed. This case illustrates TBIR as a rare but severe form of acquired insulin resistance and describes an effective multidisciplinary approach to treatment.

Learning points:

  • We describe an unusual case of type B insulin resistance syndrome (TBIR) in association with mixed connective tissue disease and psoriasis.

  • Clinical evidence of severe insulin resistance was corroborated by euglycaemic hyperinsulinaemic clamp, and anti-insulin receptor autoantibodies were confirmed by immunoprecipitation assay.

  • Treatment with metformin, hydroxychloroquine and methotrexate ameliorated extreme insulin resistance.

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Mike Lin Department of Endocrinology and Diabetes, Royal North Shore Hospital, New South Wales, Australia

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Venessa Tsang Department of Endocrinology and Diabetes, Royal North Shore Hospital, New South Wales, Australia
Cancer Genetics Unit, Kolling Institute of Medical Research, New South Wales, Australia
Faculty of Health and Medicine, University of Sydney, New South Wales, Australia

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Janice Brewer Department of Anatomical Pathology, Royal North Shore Hospital, New South Wales, Australia

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Roderick Clifton-Bligh Department of Endocrinology and Diabetes, Royal North Shore Hospital, New South Wales, Australia
Cancer Genetics Unit, Kolling Institute of Medical Research, New South Wales, Australia
Faculty of Health and Medicine, University of Sydney, New South Wales, Australia

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Matti L Gild Department of Endocrinology and Diabetes, Royal North Shore Hospital, New South Wales, Australia
Cancer Genetics Unit, Kolling Institute of Medical Research, New South Wales, Australia
Faculty of Health and Medicine, University of Sydney, New South Wales, Australia

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Summary

Lymphocytic hypophysitis is a rare neuroendocrine disease characterised by an autoimmune inflammatory disorder of the pituitary gland. We report a 50-year-old woman who presented with headaches and bilateral sixth cranial nerve palsies. MRI of the pituitary revealed extensive fibrosis involving the sellar and extending into both cavernous sinuses causing bilateral occlusion of the internal carotid arteries (ICA). Transphenoidal biopsy confirmed the diagnosis of infiltrative fibrotic lymphocytic hypophysitis. Symptoms resolved with high dose of oral steroids but relapsed on tapering, requiring several treatments of i.v. pulse steroids over 8 months. Rituximab combined with mycophenolate mofetil was required to achieve long-term symptom relief. Serial MRI pituitary imaging showed stabilisation of her disease without reduction in sellar mass or regression of ICA occlusion. The patient’s brain remained perfused solely by her posterior circulation. This case demonstrates an unusual presentation of a rare disease and highlights a successful steroid-sparing regimen in a refractory setting.

Learning points:

  • Lymphocytic hypophysitis is a rare inflammatory disorder of the pituitary gland. In exceptional cases, there is infiltration of the cavernous sinus with subsequent occlusion of the internal carotid arteries.

  • First-line treatment of lymphocytic hypophysitis is high-dose glucocorticoids. Relapse after tapering or discontinuation is common and its use is limited by long-term adverse effects.

  • There is a paucity of data for treatment of refractory lymphocytic hypophysitis. Goals of treatment should include improvement in symptoms, correction of hormonal insufficiencies, reduction in lesion size and prevention of recurrence.

  • Steroid-sparing immunosuppressive drugs such as rituximab and mycophenolate mofetil have been successful in case reports. This therapeutic combination represents a viable alternative treatment for refractory disease.

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Dured Dardari Diabetology Department, Centre Hopitalier Sud Francilien, Corbeil-Essonnes, France
Sorbonne Université, Paris, France

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Alfred Penfornis Diabetology Department, Centre Hopitalier Sud Francilien, Corbeil-Essonnes, France
Paris-Sud Medical School, Paris-Saclay University, Orsay, France

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Agnes Hartemann Diabetology Department, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France
Sorbonne Université, Paris, France

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Summary

We report the onset of acute Charcot neuroarthropathy during pregnancy in two patients with type 1 diabetes using retrospective review of case notes. We describe for the first time the onset of acute Charcot neuroarthropathy during pregnancy in two patients with type 1 diabetes. Pregnancy may promote the onset and worsening of a number of diabetic complications. A link between pregnancy and the onset of acute Charcot neuroarthropathy is demonstrated for the first time in this report.

Learning points:

  • Patients with already diagnosed sensitive neuropathy can develop an active phase of Charcot neuroarthropathy during pregnancy.

  • The rapid correction of hyperglycaemia may induce an active phase of Charcot neuroarthropathy during pregnancy.

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Sofia Pilar Ildefonso-Najarro Division of Endocrinology, Guillermo Almenara Irigoyen National Hospital, Lima, Peru

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Esteban Alberto Plasencia-Dueñas Division of Endocrinology, Guillermo Almenara Irigoyen National Hospital, Lima, Peru

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Cesar Joel Benites-Moya National University of Trujillo, School of Medicine, Trujillo, Peru

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Jose Carrion-Rojas Metabolism and Reproduction Unit, Division of Endocrinology, Guillermo Almenara Irigoyen National Hospital, Lima, Peru

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Marcio Jose Concepción-Zavaleta Division of Endocrinology, Guillermo Almenara Irigoyen National Hospital, Lima, Peru

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Summary

Cushing’s syndrome is an endocrine disorder that causes anovulatory infertility secondary to hypercortisolism; therefore, pregnancy rarely occurs during its course. We present the case of a 24-year-old, 16-week pregnant female with a 10-month history of unintentional weight gain, dorsal gibbus, nonpruritic comedones, hirsutism and hair loss. Initial biochemical, hormonal and ultrasound investigations revealed hypokalemia, increased nocturnal cortisolemia and a right adrenal mass. The patient had persistent high blood pressure, hyperglycemia and hypercortisolemia. She was initially treated with antihypertensive medications and insulin therapy. Endogenous Cushing’s syndrome was confirmed by an abdominal MRI that demonstrated a right adrenal adenoma. The patient underwent right laparoscopic adrenalectomy and anatomopathological examination revealed an adrenal adenoma with areas of oncocytic changes. Finally, antihypertensive medication was progressively reduced and glycemic control and hypokalemia reversal were achieved. Long-term therapy consisted of low-dose daily prednisone. During follow-up, despite favorable outcomes regarding the patient’s Cushing’s syndrome, stillbirth was confirmed at 28 weeks of pregnancy. We discuss the importance of early diagnosis and treatment of Cushing’s syndrome to prevent severe maternal and fetal complications.

Learning points:

  • Pregnancy can occur, though rarely, during the course of Cushing’s syndrome.

  • Pregnancy is a transient physiological state of hypercortisolism and it must be differentiated from Cushing’s syndrome based on clinical manifestations and laboratory tests.

  • The diagnosis of Cushing’s syndrome during pregnancy may be challenging, particularly in the second and third trimesters because of the changes in the maternal hypothalamic-pituitary-adrenal axis.

  • Pregnancy during the course of Cushing’s syndrome is associated with severe maternal and fetal complications; therefore, its early diagnosis and treatment is critical.

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Baris Akinci Brehm Center for Diabetes Research and Division of Metabolism, Endocrinology & Diabetes, University of Michigan, Ann Arbor, Michigan, USA
Division of Endocrinology and Metabolism, Dokuz Eylul University, Izmir, Turkey

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Rasimcan Meral Brehm Center for Diabetes Research and Division of Metabolism, Endocrinology & Diabetes, University of Michigan, Ann Arbor, Michigan, USA

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Diana Rus Brehm Center for Diabetes Research and Division of Metabolism, Endocrinology & Diabetes, University of Michigan, Ann Arbor, Michigan, USA

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Rita Hench Brehm Center for Diabetes Research and Division of Metabolism, Endocrinology & Diabetes, University of Michigan, Ann Arbor, Michigan, USA

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Adam H Neidert Brehm Center for Diabetes Research and Division of Metabolism, Endocrinology & Diabetes, University of Michigan, Ann Arbor, Michigan, USA

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Frank DiPaola Division of Pediatric Gastroenterology, University of Michigan, Ann Arbor, Michigan, USA

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Maria Westerhoff Department of Pathology, University of Michigan, Ann Arbor, Michigan, USA

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Simeon I Taylor Division of Endocrinology, Diabetes, and Nutrition, University of Maryland School of Medicine, Baltimore, Maryland, USA

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Elif A Oral Brehm Center for Diabetes Research and Division of Metabolism, Endocrinology & Diabetes, University of Michigan, Ann Arbor, Michigan, USA

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Summary

A patient with atypical partial lipodystrophy who had a transient initial response to metreleptin experienced acute worsening of her metabolic state when neutralizing antibodies against metreleptin appeared. Because her metabolic status continued to deteriorate, a therapeutic trial with melanocortin-4 receptor agonist setmelanotide, that is believed to function downstream from leptin receptor in the leptin signaling system, was undertaken in an effort to improve her metabolic status for the first time in a patient with lipodystrophy. To achieve this, a compassionate use (investigational new drug application; IND) was initiated (NCT03262610). Glucose control, body fat by dual-energy X-ray absorptiometry and MRI, and liver fat by proton density fat fraction were monitored. Daily hunger scores were assessed by patient filled questionnaires. Although there was a slight decrease in hunger scales and visceral fat, stimulating melanocortin-4 receptor by setmelanotide did not result in any other metabolic benefit such as improvement of hypertriglyceridemia or diabetes control as desired. Targeting melanocortin-4 receptor to regulate energy metabolism in this setting was not sufficient to obtain a significant metabolic benefit. However, complex features of our case make it difficult to generalize these observations to all cases of lipodystrophy. It is still possible that melanocortin-4 receptor agonistic action may offer some therapeutic benefits in leptin-deficient patients.

Learning points:

  • A patient with atypical lipodystrophy with an initial benefit with metreleptin therapy developed neutralizing antibodies to metreleptin (Nab-leptin), which led to substantial worsening in metabolic control. The neutralizing activity in her serum persisted for longer than 3 years.

  • Whether the worsening in her metabolic state was truly caused by the development of Nab-leptin cannot be fully ascertained, but there was a temporal relationship. The experience noted in our patient at least raises the possibility for concern for substantial metabolic worsening upon emergence and persistence of Nab-leptin. Further studies of cases where Nab-leptin is detected and better assay systems to detect and characterize Nab-leptin are needed.

  • The use of setmelanotide, a selective MC4R agonist targeting specific neurons downstream from the leptin receptor activation, was not effective in restoring metabolic control in this complex patient with presumed diminished leptin action due to Nab-leptin.

  • Although stimulating the MC4R pathway was not sufficient to obtain a significant metabolic benefit in lowering triglycerides and helping with her insulin resistance as was noted with metreleptin earlier, there was a mild reduction in reported food intake and appetite.

  • Complex features of our case make it difficult to generalize our observation to all leptin-deficient patients. It is possible that some leptin-deficient patients (especially those who need primarily control of food intake) may still theoretically benefit from MC4R agonistic action, and further studies in carefully selected patients may help to tease out the differential pathways of metabolic regulation by the complex network of leptin signaling system.

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Nirusha Arnold Westmead Private Hospital, Westmead, Sydney, New South Wales, Australia

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Victor O’Toole Westmead Private Hospital, Westmead, Sydney, New South Wales, Australia

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Tien Huynh Westmead Private Hospital, Westmead, Sydney, New South Wales, Australia

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Howard C Smith Westmead Teaching Hospital, Royal North Shore Teaching Hospital, The University of Sydney, Sydney, New South Wales, Australia

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Catherine Luxford Kolling Institute of Medical Research, Royal North Shore Teaching Hospital, The University of Sydney, Sydney, New South Wales, Australia

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Roderick Clifton-Bligh Kolling Institute of Medical Research, Royal North Shore Teaching Hospital, The University of Sydney, Sydney, New South Wales, Australia

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Creswell J Eastman Westmead Private Hospital, Westmead, Sydney, New South Wales, Australia
Westmead Teaching Hospital, Royal North Shore Teaching Hospital, The University of Sydney, Sydney, New South Wales, Australia

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Summary

Parathyroid-independent hypercalcaemia of pregnancy, due to biallelic loss of function of the P450 enzyme CYP24A1, the principal inactivator of 1,25(OH)2D results in hypervitaminosis D, hypercalcaemia and hypercalciuria. We report two cases of this disorder, with intractable hypercalcaemia, one occurring during gestation and into the postpartum, and the other in the postpartum period. Case 1, a 47-year-old woman with a twin pregnancy conceived by embryo transfer, presented with hypercalcaemia at 23 weeks gestation with subnormal serum parathyroid hormone (PTH) and normal serum 25-OH D levels. She was admitted to hospital at 31 weeks gestation with pregnancy-induced hypertension, gestational diabetes and increasing hypercalcaemia. Caesarean section at 34 weeks gestation delivered two healthy females weighing 2.13 kg and 2.51 kg. At delivery, the patient’s serum calcium level was 2.90 mmol/L. Postpartum severe hypercalcaemia was treated successfully with Denosumab 60 mg SCI, given on two occasions. CYP24A1 testing revealed she was compound heterozygous for pathogenic variants c.427_429delGAA, (p.Glu143del) and c.1186C>T, (p.Arg396Trp). Case 2, a 36-year-old woman presented 4 days after the delivery of healthy twins with dyspnoea, bradycardia, severe headaches, hypertension and generalized tonic-clonic seizures after an uneventful pregnancy. She was hypercalcaemic with a suppressed PTH, normal 25(OH)D, and elevated 1,25(OH)2D levels. Her symptoms partially responded to i.v. saline and corticosteroids in the short term but bisphosphonates such as Pamidronate and Zoledronic acid did not result in sustained improvement. Denosumab 120 mg SCI successfully treated the hypercalcaemia which resolved completely 2 months post-partum. CYP24A1 testing revealed she was homozygous for the pathogenic variant c.427_429delGAA, (p.Glu143del).

Learning points:

  • Hypercalcaemia in pregnancy can be associated with considerable morbidity with few options available for management.

  • In non-PTH-related hypercalcaemia the diagnosis of CYP24A1 deficiency should be considered.

  • Making a definitive diagnosis of CYP24A1 deficiency by genetic testing delays the diagnosis, while the availability of serum 24,25-dihydroxyvitamin D (24,25(OH)2D) will expedite a diagnosis.

  • In pregnant women with CYP24A1 deficiency hypercalcaemia can worsen in the post-partum period and is more likely to occur with twin pregnancies but generally resolves within 2–3 months.

  • Therapeutic alternatives are limited in pregnancy and their effectiveness is short-lived and mostly ineffective. Denosumab used in both our patients after delivery was the most effective agent normalizing calcium and may have benefit as a long-term therapeutic agent in preventing complications in patients with CYP24A1 deficiency.

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Valeria de Miguel Departments of Endocrinology, Metabolism and Nuclear Medicine

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Andrea Paissan Departments of Endocrinology, Metabolism and Nuclear Medicine

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Patricio García Marchiñena Departments of Urology, Metabolism and Nuclear Medicine

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Alberto Jurado Departments of Urology, Metabolism and Nuclear Medicine

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Mariana Isola Pathology, Buenos Aires, Argentina

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José Alfie Hypertension Unit of Hospital Italiano de Buenos Aires, Buenos Aires, Argentina

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Patricia Fainstein-Day Departments of Endocrinology, Metabolism and Nuclear Medicine

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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.

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A Veltroni ENETS Center of Excellence, Department of Medicine, University of Verona, Verona, Italy

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G Zambon ENETS Center of Excellence, Department of Medicine, University of Verona, Verona, Italy

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S Cingarlini ENETS Center of Excellence, Department of Oncology, University of Verona, Verona, Italy

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M V Davì ENETS Center of Excellence, Department of Medicine, University of Verona, Verona, Italy

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Summary

Insulin autoimmune syndrome (IAS), a rare cause of autoimmune hyperinsulinaemic hypoglycaemia, is relatively well known in Japan. The incidence in Caucasians is less than one-fifth of that reported in Japanese people, but it is becoming increasingly recognised worldwide in non-Asians as well. Drugs containing sulphydryl groups are known to be associated with the disease in genetically predisposed individuals. Moreover, several recent reports showed a direct association between the onset of IAS and the consumption of dietary supplements containing alpha-lipoic acid (LA). Insulinoma remains the most prevalent cause of hypersulinaemic hypoglycaemia in Caucasians. Consequently, primary investigation in these patients is generally focused on localisation of the pancreatic tumour, often with invasive procedures followed by surgery. We described a case of an Italian woman presenting to us with severe recurrent hypoglycaemia associated with high insulin and C-peptide levels and no evidence of pancreatic lesions at imaging diagnostic procedures. She had taken LA until 2 weeks before hospitalisation. After an evaluation of her drug history, an autoimmune form of hypoglycaemia was suspected and the titre of insulin autoantibodies was found to be markedly elevated. This allowed us to diagnose LA-related IAS, thus preventing any unnecessary surgery and avoiding invasive diagnostic interventions.

Learning points:

  • IAS is a rare cause of hyperinsulinaemic hypoglycaemia that typically affects Asian population, but it has been increasingly recognised in Caucasian patients.

  • It should be considered among the differential diagnosis of hyperinsulinaemic hypoglycaemia to avoid unnecessary diagnostic investigations and surgery.

  • It should be suspected in the presence of very high serum insulin levels (100–10  000  μU/mL) associated with high C-peptide levels.

  • There is a strong association with administration of drugs containing sulphydryl groups included LA, a dietary supplement commonly used in Western countries to treat peripheral neuropathy.

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Miriam Hinaa Ahmad
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Ismat Shafiq Department of Medicine, Division of Endocrinology, Diabetes and Metabolism, University of Rochester, Rochester, New York, USA

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Summary

We report a case of a 21-year-old African American female with history of pre-diabetes, and a diagnosis of a rare leukemia, blastic-plasmacytoid dendritic neoplasm (BPDCN), who developed diabetic ketoacidosis (DKA) after the third dose of PEG-asparaginase infusion. She was successfully treated with insulin. Asparaginase is a vital part of treatment protocols for acute lymphoblastic leukemia (ALL) in combination with other chemotherapeutic drugs. Asparaginase therapy has been reported to cause hyperglycemia especially when used in conjunction with glucocorticoids for the treatment of ALL in the pediatric population. Multiple mechanisms for hyperglycemia have been hypothesized which include decreased insulin secretion, impaired insulin receptor function and excess glucagon formation. Hyperglycemia is usually self-limiting but can deteriorate to diabetic ketoacidosis. DKA is a rare adverse effect with asparaginase therapy with an incidence rate of about 0.8%.

Learning points:

  • DKA is a rare finding following asparaginase therapy.

  • Hyperglycemia is most commonly seen with asparaginase treatment when used along with glucocorticoid.

  • Frequent blood glucose monitoring and prompt initiation of insulin treatment with hyperglycemia can prevent severe complications.

  • Patients and physician education on this complication can reduce morbidity due to DKA.

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