Patient Demographics > Age
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Nova Medical School/ Faculdade de Ciencias Medicas, Universidade Nova de Lisboa, Lisbon, Portugal
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Nova Medical School/ Faculdade de Ciencias Medicas, Universidade Nova de Lisboa, Lisbon, Portugal
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Nova Medical School/ Faculdade de Ciencias Medicas, Universidade Nova de Lisboa, Lisbon, Portugal
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Nova Medical School/ Faculdade de Ciencias Medicas, Universidade Nova de Lisboa, Lisbon, Portugal
Health and Technology Research Center (H&TRC), Escola Superior de Tecnologia da Saude de Lisboa, Lisbon, Portugal
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Summary
17-Alpha-hydroxylase deficiency (17OHD) is a rare autosomal recessive disease, representing 1% of cases of congenital adrenal hyperplasia. A 44-year-old female presented to the emergency department complaining of generalized asthenia and polyarthralgia for about 2 weeks. On examination, she was hypertensive (174/100 mmHg), and laboratory results revealed hypokalemia and hypocortisolism. She had an uncharacteristic morphotype, BMI of 16.7 kg/m2, cutaneous hyperpigmentation, and Tanner stage M1P1, with normal female external genitalia. She reported to have primary amenorrhea. Further analytical evaluations of her hormone levels were performed CT scan revealed adrenal bilateral hyperplasia and absence of female internal genitalia. A nodular lesion was observed in the left inguinal canal with 25 × 10 mm, compatible with a testicular remnant. Genetic analysis identified the c.3G>A p.(Met1?) variant in homozygosity in the CYP17A1 gene, classified as pathogenic, confirming the diagnosis of 17OHD. Karyotype analysis was compatible with 46,XY. The association of severe hypokalemia, hypertension, hypocortisolism, and oligo/amenorrhea and the absence of secondary sexual characteristics favored the diagnosis of 17OHD, confirmed by genetic testing. As in other published clinical cases, diagnosis outside pediatric age is not rare and should be considered when severe hypokalemia occurs in hypertensive adults with a lack of secondary sexual characteristics.
Learning points
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The association of severe hypokalemia, hypertension, hypocortisolism, and oligo/amenorrhea and the absence of secondary sexual characteristics favor the diagnosis of 17-alpha-hydroxylase deficiency (17OHD).
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Diagnosis outside pediatric age is not rare.
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17OHD should be considered when severe hypokalemia occurs in hypertensive adults with a lack of secondary sexual characteristics.
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Summary
Ectopic Cushing’s syndrome (ECS) is a rare disease associated with significant comorbidity. Among the causes of Cushing's syndrome, adrenocorticotropic hormone-producing extrapituitary tumours are rarely reported. This low frequency makes it difficult for the physician to acquire experience in its management.
In this report, we aimed to describe the clinical presentation, diagnostic approach and treatment modalities of 12 patients with ECS treated in a single tertiarycentre over a 17-year period. Although they can appear in different locations through the neuroendocrine system, lung tumours are the most frequently reported, as it occurs in our series. They can show different levels of aggressiveness and mild to severe clinical course. Therefore, distinguishing Cushing's disease can be challenging and sometimes requires more specific techniques such as invasive tests or no conventional imaging. Treatment includes controlling both hypercortisolism and neoplastic disease, and multidisciplinary management is recommended.
Learning points
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Ectopic Cushing's syndrome (ECS) accounts for 15% of endogenous Cushing's syndromes. Its infrequency implies that both diagnosis and treatment can be a challenge for clinicians without experience in its management.
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The most common location is the lung. Although older series reported small cell lung carcinoma (SCLC) as the main ECS-producing tumour, currently most cases are attributed to lung carcinoids.
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Low-grade tumours (lung carcinoids) present themselves with a more subtle and gradual hypercortisolism, and clinically this can be difficult to differentiate from hypercortisolism due to CD. In contrast, high-grade tumours (SCLC) show severe hypercortisolism with rapid evolution.
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The diagnostic approach is complex especially when the tumour is not previously known and the clinical presentation is subtle. Functional tests are mandatory in these cases, and nuclear medicine imaging can help when conventional imaging tests fail to identify the tumour.
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ECS treatment includes a wide variety of modalities oriented to treat both the excess of cortisol and the tumour itself. The tumour prognosis depends fundamentally on the type of adrenocorticotropic hormone-secreting tumour.
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Expert and multidisciplinary team is essential for successfully treating these complex and ill patients.
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Summary
Primary hyperparathyroidism (PHPT) is a common endocrinological pathology; nonetheless, it is rarely diagnosed in pregnancy. Primary hyperparathyroidism can present with clinically expressed hypercalcemia. High Ca levels in the blood may lead to a miscarriage. We present the case of a 39-year-old woman who visited our Endocrinology clinic in search of a cause of infertility. Blood work showed elevated Ca and parathyroid hormone (PTH) levels. Upper left parathyroid gland adenoma was found during a neck ultrasound. Parathyroid gland adenoma was likely the cause of PHPT and was treated with parathyroidectomy. Surgery was carried out, and the upper left parathyroid lobe adenoma was removed. High levels of Ca were found in all performed blood works since the first visit to the clinic, but following the surgery, Ca levels of the patient were in the normal range and the woman got pregnant for the third time, later delivering a healthy baby. In conclusion, we would like to put forward the idea that an evaluation of Ca level in the blood should be included in the protocol for treating patients with recurrent miscarriages. Early detection of hypercalcemia can improve the outcomes of disease that primary hyperparathyroidism can cause. Swift and accurate decrease of serum Ca correspondingly safeguards the woman from a possible pregnancy loss along with complications that arise from it.–
Learning points
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Primary hyperparathyroidism (PHPT) is a common endocrinological pathology, nonetheless, it is rarely diagnosed in pregnancy.
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Primary hyperparathyroidism can present with clinically expressed hypercalcemia, and high Ca levels in the blood may lead to a miscarriage.
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Early detection of hypercalcemia can improve the outcomes of disease that primary hyperparathyroidism can cause.
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Swift and accurate decrease of serum Ca correspondingly safeguards the woman from a possible pregnancy loss along with complications that arise from it.
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All pregnant patients with hypercalcemia should be assessed for the presence of primary hyperparathyroidism as it is likely the cause.
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Department of Medicine, Omihachiman Community Medical Center, Omihachiman, Shiga, Japan
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Summary
A 17-year-old boy was referred to our endocrinology clinic for a clinical investigation of hyperinsulinemia. An oral glucose tolerance test showed plasma glucose concentrations in the normal range. However, insulin concentrations were considerably elevated (0 min: 71 μU/mL; 60 min: 953 μU/mL), suggesting severe insulin resistance. An insulin tolerance test confirmed that he had insulin resistance. There was no apparent hormonal or metabolic cause, including obesity. The patient had no outward features of hyperinsulinemia, including acanthosis nigricans or hirsutism. However, his mother and grandfather also had hyperinsulinemia. Genetic testing showed that the patient (proband), his mother, and his grandfather had a novel p.Val1086del heterozygous mutation in exon 17 of the insulin receptor gene (INSR). Although all three family members have the same mutation, their clinical courses have been different. The onset of the mother’s diabetes was estimated at 50 years, whereas the grandfather developed diabetes at 77 years.
Learning points
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Type A insulin resistance syndrome is caused by mutations in the insulin receptor (INSR) gene and results in severe insulin resistance.
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Genetic evaluation should be considered in adolescents or young adults with dysglycemia when an atypical phenotype, such as severe insulin resistance, or a relevant family history is observed.
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Clinical courses may differ even if the same genetic mutation is found in a family.
Department of Endocrinology and Metabolism, Kanazawa University Graduate School of Medicine, Takaramachi, Kanazawa, Japan
Department of Health Promotion and Medicine of the Future, Kanazawa University, Takaramachi, Kanazawa, Japan
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Department of Endocrinology and Metabolism, Kanazawa University Graduate School of Medicine, Takaramachi, Kanazawa, Japan
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Department of Health Promotion and Medicine of the Future, Kanazawa University, Takaramachi, Kanazawa, Japan
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Department of Health Promotion and Medicine of the Future, Kanazawa University, Takaramachi, Kanazawa, Japan
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Department of Health Promotion and Medicine of the Future, Kanazawa University, Takaramachi, Kanazawa, Japan
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Summary
Fulminant type 1 diabetes (FT1D) is a subtype of diabetes characterized by rapid progression of β-cell destruction, hyperglycemia, and diabetic ketoacidosis (DKA). The pathogenesis of this disease remains unclear. However, viral infections, HLA genes, and immune checkpoint inhibitor use were reportedly involved in this disease. A 51-year-old Japanese man with no chronic medical condition was admitted to our hospital with complaints of nausea and vomiting. Cough, sore throat, nasal discharge, and diarrhea were not noted. He had a medical history of at least two influenza infections. His vaccination history was notable for receiving an inactive split influenza vaccine 12 days prior to developing these symptoms. He was diagnosed with DKA associated with FT1D. His HLA class II genotypes were nonsusceptible to FT1D, and he had a negative history of immune checkpoint inhibitor use. The destruction of the pancreas by cytotoxic T cells is reported to be involved in FT1D. Inactive split influenza vaccines do not directly activate cytotoxic T cells. However, these could activate the redifferentiation of memory CD8-positive T cells into cytotoxic T cells and induce FT1D, as this patient had a history of influenza infections.
Learning points
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Influenza split vaccination could cause fulminant type 1 diabetes (FT1D).
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The mechanism of influenza split vaccine-induced FT1D might be through the redifferentiation of CD8-positive memory T cells into cytotoxic T cells.
University of Sousse, Faculty of Medicine of Sousse, Sousse, Tunisia
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University of Tunis, Faculty of Medicine of Tunis, Tunis, Tunisia
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University of Sousse, Faculty of Medicine of Sousse, Sousse, Tunisia
Department of Dermatology, University Hospital of Farhat Hached Sousse, Tunisia
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University of Sousse, Faculty of Medicine of Sousse, Sousse, Tunisia
Department of Dermatology, University Hospital of Farhat Hached Sousse, Tunisia
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University of Sousse, Faculty of Medicine of Sousse, Sousse, Tunisia
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University of Sousse, Faculty of Medicine of Sousse, Sousse, Tunisia
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University of Sousse, Faculty of Medicine of Sousse, Sousse, Tunisia
Department of Dermatology, University Hospital of Farhat Hached Sousse, Tunisia
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University of Sousse, Faculty of Medicine of Sousse, Sousse, Tunisia
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Summary
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive inherited syndrome caused by mutations in autoimmune regulator (AIRE) gene. The three clinical components of this syndrome are mucocutaneous candidiasis, hypoparathyroidism, and primary adrenal insufficiency. In addition to these frequent symptoms, many other components have been reported including gastrointestinal manifestations.We report a case of a 17-year-old Caucasian female patient diagnosed with APECED who presented with acute abdominal pain. Her medical history revealed chronic digestive discomfort without bowel movement disorders. The patient needed a significant increase in doses of calcium supplementation and hydrocortisone which appeared to be partially inefficient. Investigation with esophagogastroduodenoscopy and biopsy showed autoimmune atrophic gastritis. The patient eventually needed increasing doses of treatment received in order to achieve desired clinical and biological therapeutic goals.
Learning points
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Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive inherited syndrome caused by mutations in the autoimmune regulator (AIRE) gene.
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The three clinical components of this syndrome that appear in early childhood are mucocutaneous candidiasis, hypoparathyroidism, and primary adrenal insufficiency.
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In addition to these frequent symptoms, many other components have been reported including gastrointestinal manifestations like atrophic gastritis. They can be caused by many abnormalities including atrophic gastritis and the modification of intestinal biofilm and microbiota.
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Early diagnosis and treatment of gastrointestinal manifestations associated with APECED prevent multiple life-threatening consequences like acute adrenal crisis and severe symptomatic hypocalcemia.
National Hospital Edgardo Rebagliati Martins, Lima, Peru
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Scientific Society of San Fernando, Lima, Peru
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Scientific Society of San Fernando, Lima, Peru
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Scientific Society of San Fernando, Lima, Peru
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Scientific Society of San Fernando, Lima, Peru
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National Hospital Edgardo Rebagliati Martins, Lima, Peru
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National Hospital Edgardo Rebagliati Martins, Lima, Peru
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National Hospital Edgardo Rebagliati Martins, Lima, Peru
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Summary
Doege–Potter syndromeis a paraneoplastic syndrome characterized by nonislet cell tumor hypoglycemia due to a solitary fibrous tumor, which produces insulin-like growth factor II. In this report, we present the case of a 67-year-old male with recurrent and refractory hypoglycemia due to DPS successfully treated with imatinib. He initially presented with neuroglycopenic symptoms and dyspnea secondary to a giant tumor in the left hemithorax, which was totally resected. During follow-up, 7 years later, he presented with thoracoabdominal tumor recurrence associated with severe hypoglycemia and underwent subtotal tumor resection, with a subsequent improvement of symptoms. The following year, he had a recurrence of his intra-abdominal tumor, which was unresectable, associated with severe hypoglycemia refractory to dextrose infusion and corticosteroids, thus receiving imatinib with a favorable response. The clinical presentation, diagnostic approach, progression of the disease, and response to treatment with imatinib in the management of a patient with large, recurrent, and unresectable mesenchymal tumors with insulin-like growth factor-2 secretion causing hypoglycemiahighlight the importance of this case report.
Learning points
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Doege–Potter syndrome (DPS) is a rare cause of tumoral hypoglycemia of non-pancreatic origin.
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Some malignant or benignant neoplasms have ectopic secretion of insulin-like growth factor-2.
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Total surgical removal is the principal treatment in patients with DPS.
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Tyrosine kinase inhibitors management in DPS may contribute to improved tumor control in patients with unresectable tumors and severe hypoglycemia.
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Summary
A 55-year-old patient was admitted to our department for the management of a repetitive alteration of consciousness. Biological investigation results were consistent with endogenous hyperinsulinemic hypoglycemia. Insulinoma was therefore suspected. Abdominal computed tomography and endoscopic ultrasound showed no obvious pancreatic mass.Somatostatin receptor scintigraphy showed abnormal radioactive uptake in both the pancreatic tail and the uncinate process. Contrariwise, abdominal magnetic resonance imaging showed a unique lesion in the pancreas tail. The patient was then proposed for pancreatic surgery. Both intraoperative manual palpation and intraoperative ultrasonography of the pancreas showed a single corporal lesion of 1.5 cm. No lesion was found in the uncinate process. After a left pancreatectomy, the lesion was histopathologically confirmed to be a well-differentiated neuroendocrine tumor. The symptoms of the patient resolved almost immediately following the surgery. The follow-up is one and a half years to date.
Learning points
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The exact preoperative localization of the pancreatic mass remains the most challenging part of insulinoma diagnostic workup.
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The radiologist’s experience is the best warrantor to a precise localization of the tumor.
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111In-DTPA-octreotide uptake in the pancreatic uncinate process may be physiological and its interpretation must, therefore, be vigilant.
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Manual palpation along with intraoperative ultrasonography is considered as the most effective method for the localization of insulinomas during open surgery.
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ANZAC Research Institute, University of Sydney, Sydney, New South Wales, Australia
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Summary
We report the successful delivery of a healthy baby after intracytoplasmic sperm injection (ICSI) with frozen-thawed autologous sperm, cryostored for 26 years, the longest successful autologous sperm cryostorage reported. Sperm was cryostored for a 15-year-old boy at the time of his cancer diagnosis. Semen samples were frozen with cryoprotectant, using a graduated vapour-phase nitrogen protocol. Straws were stored in a large vapour-phase nitrogen tank until transfer for use. The couple underwent a single ICSI–in vitro fertilisation procedure using the frozen-thawed sperm with a transfer of five fertilised embryos, resulting in the live birth of a healthy baby boy. This reinforces the importance of offering sperm cryopreservation to men who have not completed their family prior to gonadotoxic treatment for cancer or other diseases. As practical, low-cost fertility insurance, it should be offered to any young man who can collect semen and it provides essentially unlimited duration of fertility preservation.
Learning points
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Gonadotoxic chemo or radiotherapy treatment for cancer or other diseases usually causes temporary or permanent male infertility.
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Sperm cryostorage serves as a practical, low-cost insurance to facilitate future paternity.
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All men who have not completed their families and are scheduled for gonadotoxic treatments should be offered sperm cryostorage.
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There is no lower age limit for young men who can collect semen.
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Sperm cryostorage offers essentially indefinite duration for the preservation of male fertility.
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Summary
Paraneoplastic syndromes (PS) are uncommon and are known to mimic other clinical entities, often carrying significant morbidity and mortality. The commonest cause of extra-ocular muscle enlargement (EOME) is thyroid eye disease (TED). Rarely, PS can cause EOME and masquerade as TED. We describe a 52-year-old female who presented with diarrhoea, acute kidney injury and electrolyte imbalance. An ophthalmic review identified right upper lid retraction. MRI orbits showed increased thickness of the inferior and medial recti bilaterally, presumed as TED. Whilst investigating her diarrhoea, imaging revealed a large rectosigmoid tumour which required surgical excision. In the context of electrolyte disturbance and acute kidney injury, a diagnosis of McKittrick–Wheelock syndrome (MWS) was made. Following successful surgery, electrolyte imbalance, diarrhoea and eyelid retraction improved. Repeat MRI orbits displayed complete resolution of EOME. To our knowledge, this is the first case of MWS presenting with PS-EOME masquerading as TED.
Learning points
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McKittrick–Wheelock syndrome (MWS) is a rare disorder, although likely under-recognised, which is characterised by diarrhoea, dehydration and electrolyte depletion that results from a hypersecretory colorectal neoplasm.
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Definitive treatment of MWS involves the resection of the colorectal neoplasm.
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Bilateral ophthalmopathy that appears to be Graves’ ophthalmopathy on imaging, though clinical and biochemical evidence fails to identify a thyroid pathology, has been associated with malignancy on rare occasions. Such patients should be investigated for potential malignant causes of their ophthalmopathy.