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Open access

Kazuyuki Oishi, Daisuke Takabatake, and Yuichi Shibuya

medical institution in June where she had been diagnosed with a thyroid tumor. She was referred to the Kochi Health Sciences Center for detailed examinations and therapy because computed tomography (CT) revealed a diffuse large tumor around the trachea

Open access

Ilse C A Bakker, Chris D Schubart, and Pierre M J Zelissen

of agitation. A manic episode occurred and haloperidol was restarted. While using haloperidol, the serum prolactin values increased to 1.58IU/L. The MRI in mid-2009 showed an unchanged adenoma size. The patient became pregnant again in June 2010. A

Open access

Jasmine Jiang Zhu, William J Naughton, Kim Hay Be, Nicholas Ensor, and Ada S Cheung

Summary

Hypercalcaemia is a very common endocrine condition, yet severe hypercalcaemia as a result of fungal infection is rarely described. There are have only been two reported cases in the literature of hypercalcaemia associated with Cryptococcus infection. Although the mechanism of hypercalcaemia in these infections is not clear, it has been suggested that it could be driven by the extra-renal production of 1-alpha-hydroxylase by macrophages in granulomas. We describe the case of a 55-year-old woman with a 1,25-OH D-mediated refractory hypercalcaemia in the context of a Cryptococcus neoformans infection. She required treatment with antifungals, pamidronate, calcitonin, denosumab and high-dose glucocorticoids. A disseminated fungal infection should be suspected in immunosuppressed individuals presenting with hypercalcaemia.

Learning point

  • In immunocompromised patients with unexplained hypercalcaemia, fungal infections should be considered as the differential diagnoses;
  • Glucocorticoids may be considered to treat 1,25-OH D-driven hypercalcaemia; however, the benefits of lowering the calcium need to be balanced against the risk of exacerbating an underlying infection;
  • Fluconazole might be an effective therapy for both treatment of the hypercalcaemia by lowering 1,25-OH D levels as well as of the fungal infection.
Open access

John Alexander and Dinesh Nagi

Summary

Primary hyperparathyroidism (PHPT) is a disease caused by overactive parathyroid glands with consequent hypercalcaemia. The main cause in 85–90% of the cases is the presence of a solitary parathyroid adenoma. The most common presentation is with asymptomatic hypercalcaemia diagnosed on routine biochemical testing. Although low serum phosphate levels are an associated finding in primary hyperparathyroidism, the diagnostic criteria for PHPT remain to be hypercalcaemia, high or inappropriately normal PTH and hypercalciuria. This case report presents a patient who presented with low phosphate levels without any other biochemical evidence of PHPT, who returned several years later with overt primary hyperparathyroidism. This report intends to raise interest among the medical fraternity whether there is a need to consider hypophosphataemia as an early sign of PHPT.

Learning points

  • Primary hyperparathyroidism is a relatively common condition with varying clinical and biochemical presentation.
  • The most common presentations still remain as an asymptomatic biochemical abnormality closely related to calcium, PTH and bone metabolism.
  • Not much attention is usually given to associated biochemical abnormalities, and hence they are usually less investigated.
  • Further research is needed to establish if patients need long-term monitoring when no obvious cause for isolated hypophosphataemia has been found.
Open access

Su Ann Tee, Paul Brennan, and Anna L Mitchell

Summary

Marfan syndrome is an autosomal dominant multisystem disorder that has an estimated incidence of 1 in 5000. It is caused by mutations in the FBN1 gene, which encodes the extracellular matrix protein type 1 fibrillin. Familial hypocalciuric hypercalcaemia (FHH), also inherited in an autosomal dominant pattern, is a rare benign disorder characterised by hypercalcaemia, hypocalciuria and relative hyperparathyroidism with normal or high plasma PTH levels, with an estimated incidence of between 1 in 10 000 to 1 in 100 000. We report a unique case of a 26-year-old man referred for investigation of hypercalcaemia, who also had clinical features of Marfan syndrome but no previous genetic investigations. Calculated fractional urinary excretion of calcium was low (0.0005) following correction of vitamin D deficiency, raising the possibility of FHH. Genetic testing for Marfan syndrome and FHH, via a hyperparathyroidism multiplex gene panel test, revealed a novel truncating variant in the FBN1 gene (c.8481T>G; p.(Tyr2827Ter)), consistent with Marfan syndrome; and a pathogenic truncating variant in the CaSR gene (c.741dupT; p.[Asp248Ter]), which confirmed the diagnosis of FHH. The patient’s mother was subsequently found to have mild hypercalcaemia (adjusted calcium 2.76 mmol/L) and is also heterozygous for the same CaSR mutation. Genetic testing of his father confirmed the presence of the same FBN1 gene mutation. This case illustrates the importance of making robust diagnoses in the era of modern genomic medicine, confirming FHH as the cause of hypercalcaemia means that no treatment is warranted and the patient can be reassured.

Learning points

  • Familial hypocalciuric hypercalcaemia (FHH) should always be excluded during the investigation of hypercalcaemia by measuring urinary calcium: creatinine clearance ratio.
  • Diagnosing FHH is important as the condition is benign and misdiagnosing patients with primary hyperparathyroidism could potentially lead to unnecessary morbidity from parathyroid surgery.
  • Genetic testing is increasingly available for a variety of inherited conditions including Marfan syndrome and FHH. Patients who present with clinical features suggestive of a particular genetic condition should undergo prompt, appropriate confirmatory testing wherever possible.
  • Taking a thorough family history is vital when assessing patients presenting with endocrine conditions, as this could prompt cascade testing and appropriate genetic counselling where necessary.
Open access

Laura Marino, Andrea Messina, James S Acierno, Franziska Phan-Hug, Nicolas J Niederländer, Federico Santoni, Stefano La Rosa, and Nelly Pitteloud

Summary

Complete androgen-insensitivity syndrome (CAIS), a disorder of sex development (46,XY DSD), is caused primarily by mutations in the androgen receptor (AR). Gonadectomy is recommended due to the increased risk of gonadoblastoma, however, surgical intervention is often followed by loss of libido. We present a 26-year-old patient with CAIS who underwent gonadectomy followed by a significant decrease in libido, which was improved with testosterone treatment but not with estradiol. Genetic testing was performed and followed by molecular characterization. We found that this patient carried a previously unidentified start loss mutation in the androgen receptor. This variant resulted in an N-terminal truncated protein with an intact DNA binding domain and was confirmed to be loss-of-function in vitro. This unique CAIS case and detailed functional studies raise intriguing questions regarding the relative roles of testosterone and estrogen in libido, and in particular, the potential non-genomic actions of androgens.

Learning points

  • N-terminal truncation of androgen receptor can cause androgen-insensitivity syndrome.
  • Surgical removal of testosterone-producing gonads can result in loss of libido.
  • Libido may be improved with testosterone treatment but not with estradiol in some forms of CAIS.
  • A previously unreported AR mutation – p.Glu2_Met190del (c.2T>C) – is found in a CAIS patient and results in blunted AR transcriptional activity under testosterone treatment.
Open access

Kara Alex-Ann Beliard, Srinidhi Shyamkumar, Preneet Cheema Brar, and Robert Rapaport

Summary

We describe a case of an infant who presented with clinical features of hyperthyroidism. The child was found to be tachycardic, hypertensive and diaphoretic, she was noted to have poor weight gain and difficulty in sleeping. The child was admitted to the pediatric intensive care unit for care. She was found to have biochemical evidence of hyperthyroidism with positive thyroid stimulating immunoglobulin. She responded well to methimazole and propranolol and had a remarkable recovery. She is the youngest patient to be diagnosed with Graves disease in the English literature, at 12 months of life.

Learning points

  • Hyperthyroidism must always be considered even at very young age, for patient presenting with poor weight gain and hyperdynamic state.
  • Autoimmune diseases are becoming more common in infancy.
  • Craniosynostosis and increased height for age are well-documented consequences of untreated hyperthyroidism in developing children.
Open access

Ann-Elin Meling Stokland, Anne Lise Dahle, Vidar Laurits Kloster, Torbjørn Nedrebø, and Bjørn Gunnar Nedrebø

Summary

Myxedema coma is an important differential diagnosis in critically ill patients. Early diagnosis and treatment are paramount but challenging due to a lack of diagnostic criteria. We report a case about a patient who suffered from untreated hypothyroidism for several years. Before the correct diagnosis was made, he was admitted three times due to severe constipation. Eventually, he developed myxedema coma in connection with a urinary tract infection. The course was complicated by recurrent seizures, and neuroimaging showed bilateral hygromas. Hormone replacement therapy resulted in complete recovery and regression of hygromas. To the best of our knowledge, this is the first time hygroma is reported in association with myxedema coma.

Learning points

  • Myxedema coma is a difficult diagnosis to make due to a lack of diagnostic criteria.
  • Cardinal features include hypothermia, bradycardia, gastrointestinal symptoms, pericardial/pleural effusions and affection of CNS. Anemia and hyponatremia are common.
  • In case of suspected myxedema coma, neuroimaging should be a part of the evaluation in most cases.
  • There is a possible association between longstanding/severe hypothyroidism and hygroma.
Open access

Maria Batool, David Fennell, David Slattery, Eamon Leen, Liam Cormican, Seamus Sreenan, and John H McDermott

Summary

Adrenocortical carcinoma (ACC) is a rare malignancy with an incidence of 0.7–2.0 cases/million/year. A majority of patients present with steroid hormone excess or abdominal mass effects, and in 15% of patients ACC is discovered incidentally. We present a case of 30-year-old otherwise asymptomatic Caucasian male who presented with a testicular swelling. Subsequent imaging and investigations revealed disseminated sarcoidosis and an 11 cm adrenal lesion. An adrenalectomy was performed. Histological examination of the resected specimen confirmed an ACC and also demonstrated a thin rim of adrenal tissue containing non-caseating granulomas, consistent with adrenal sarcoid.

Learning points

  • This case highlights an unusual presentation of two uncommon diseases.
  • This case also highlights how separate and potentially unrelated disease processes may occur concomitantly and the importance, therefore, of keeping an open mind when dealing with unusual diagnostic findings.
  • We also hypothesize a potential link between the ACC and sarcoidosis in our patient.
Open access

Ayesha Ghayur, Qurrat Elahi, Chinmay Patel, and Rishi Raj

Summary

Hypothyroidism is a common medical condition and is often easily managed with excellent outcomes, when treated adequately. Compliance with levothyroxine (LT4) therapy is often compromised because of the need for a daily and lasting schedule. Overt rhabdomyolysis due to under-treatment or non-compliance is a rare occurrence. We report a case of rhabdomyolysis leading to acute kidney injury (AKI) on chronic kidney disease (CKD) requiring hemodialysis (HD) in a 68-year-old Caucasian male due to non-compliance with levothyroxine (LT4) therapy. Our patient 'ran out of levothyroxine' for approximately 4 weeks and developed gradually progressive muscle pain. The diagnosis of severe AKI due to rhabdomyolysis was made based on oliguria, elevated creatinine kinase (CK), and renal failure. Resuming the home dose of LT4 failed to correct CK levels, and there was a progressive decline in renal function. Although increasing doses of LT4 and three cycles of HD improved CK levels, they remained above baseline at the time of discharge. The patient recovered gradually and required HD for 4 weeks. CK levels normalized at 6 weeks. Through this case report, we highlight that non-compliance with LT4 therapy can lead to life-threatening complications such as renal failure and hence the need to educate patients on the significance of compliance with LT4 therapy should be addressed.

Learning points

  • Non-compliance to levothyroxine therapy is common and can lead to serious complications, including rhabdomyolysis.
  • Rhabdomyolysis is an uncommon presentation of hypothyroidism and severe rhabdomyolysis can result in renal failure requiring hemodialysis.
  • Rhabdomyolysis associated with hypothyroidism can be further exacerbated by concomitant use of statins.