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Nikitas S Skarakis Unit of Endocrinology and Diabetes Center, ‘G. Gennimatas’ General Hospital, Athens, Greece

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Irene Papadimitriou Unit of Endocrinology and Diabetes Center, ‘G. Gennimatas’ General Hospital, Athens, Greece

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Labrini Papanastasiou Unit of Endocrinology and Diabetes Center, ‘G. Gennimatas’ General Hospital, Athens, Greece

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Sofia Pappa Department of Pathology, ‘G. Gennimatas’ General Hospital, Athens, Greece

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Anastasia Dimitriadi Department of Pathology, ‘G. Gennimatas’ General Hospital, Athens, Greece

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Ioannis Glykas Department of Urology, General Hospital of Athens ‘G Gennimatas’, Athens, Greece

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Konstantinos Ntoumas Department of Urology, General Hospital of Athens ‘G Gennimatas’, Athens, Greece

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Penelope Lampropoulou Department of Radiology, General Hospital of Athens ‘G Gennimatas’, Athens, Greece

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Theodora Kounadi Unit of Endocrinology and Diabetes Center, ‘G. Gennimatas’ General Hospital, Athens, Greece

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Summary

Juxtaglomerular cell tumour (JGCT) is an unusually encountered clinical entity. A 33-year-old man with severe long-standing hypertension and hypokalaemia is described. The patient also suffered from polyuria, polydipsia, nocturia and severe headaches. On admission, laboratory investigation revealed hypokalaemia, kaliuresis, high aldosterone and renin levels, and the abdomen CT identified a mass of 4 cm at the right kidney. Kidney function was normal. Following nephrectomy, the histological investigation revealed the presence of a JGCT. Immunostaining was positive for CD34 as well as for smooth muscle actin and vimentin. Following surgery, a marked control of his hypertension with calcium channel blockers and normalization of the serum potassium, renin or aldosterone levels were reached. According to our findings, JGCT could be included in the differential diagnosis of secondary hypertension as it consists of a curable cause. The association of JGCT with hypertension and hypokalaemia focusing on the clinical presentation, diagnostic evaluation and management is herein discussed and a brief review of the existing literature is provided.

Learning points

  • Juxtaglomerular cell tumours (JGCT), despite their rarity, should be included in the differential diagnosis of secondary hypertension as they consist of a curable cause of hypertension.

  • JGCT could be presented with resistant hypertension along with hypokalaemia, kaliuresis and metabolic alkalosis. Early recognition and management can help to prevent cardiovascular complications.

  • Imaging (enhanced CT scans) may be considered as the primary diagnostic tool for the detection of renal or JGCT.

  • For the confirmation of the diagnosis, a histopathologic examination is needed.

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Clare E Bonnar Centre for Diabetes, Endocrinology & Metabolism

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John F Brazil Centre for Diabetes, Endocrinology & Metabolism

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Julie O Okiro Department of Nephrology, Endocrinology & Metabolism

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Louise Giblin Department of Nephrology, Endocrinology & Metabolism

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Yvonne Smyth Department of Cardiology, Galway, Ireland

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Paula M O’Shea Department of Clinical Biochemistry, Galway University Hospitals, Saolta University Healthcare Group, Galway, Ireland

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Francis M Finucane Centre for Diabetes, Endocrinology & Metabolism

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Summary

A 32-year-old Caucasian male presented to the emergency department with a one-day history of acute severe bilateral lower limb weakness, three days after competing in a bodybuilding competition. He consumed large quantities of carbohydrate-rich foods following the competition. His past medical history was significant for anxiety, and family history was non-contributory. Examination was normal except for reduced power and hyporeflexia in both legs, despite his muscular physique. He was noted to have severe hypokalaemia (K+= 1.9 mmol/L). His thyroid function tests were consistent with thyrotoxicosis. He reported taking thyroxine and several other agents to facilitate muscle mass generation before the bodybuilding competition. His presentation was reminiscent of thyrotoxic periodic paralysis, albeit uncommon with Caucasian ethnicity. He also had transient hyperglycaemia at presentation with concomitant hyperinsulinaemia, which could be attributed to the carbohydrate load and may have exacerbated his hypokalaemia through a transcellular shift. Urine toxicology screen subsequently ruled out the use of diuretics but confirmed the presence of a long-acting beta agonist (clenbuterol) which, along with other substances, may have aggravated the hypokalaemia further. After 12 h of i.v. replacement, the potassium level normalised and leg weakness resolved. The patient agreed to stop taking thyroxine and beta agonists and was well during the clinic visit at one month follow-up. This case highlights the potential for thyrotoxicosis factitia to exacerbate hypokalaemia and muscle weakness from other causes in bodybuilders presenting with acute severe weakness, irrespective of ethnicity.

Learning points

  • In patients presenting with muscle weakness and hypokalaemia, early consideration of thyrotoxicosis is essential, even in the absence of a past history of thyroid disease or specific symptoms of thyrotoxicosis, in order to allow prompt initiation of appropriate treatment and to prevent recurrence.

  • Bodybuilders may constitute a uniquely ‘at-risk’ group for thyrotoxic periodic paralysis secondary to thyrotoxicosis factitia, especially where there is concomitant use of beta-adrenergic agonists, even in the absence of diuretic use.

  • Although rare and usually described in patients of Asian or Polynesian ethnicity, this case highlights that thyrotoxic periodic paralysis secondary to thyrotoxicosis factitia can also occur in patients with Caucasian ethnicity.

  • We speculate that consuming large quantities of carbohydrates may induce hyperinsulinaemia, which could theoretically contribute to worse hypokalaemia, though mechanistic studies would be needed to explore this further.

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Lachlan M Angus Department of Endocrinology, Austin Health, Heidelberg, Victoria, Australia
Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia

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Jun Yang Centre for Endocrinology and Metabolism, Hudson Institute of Medical Research, Victoria, Australia
Department of Medicine, Monash University, Victoria, Australia

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Ada S Cheung Department of Endocrinology, Austin Health, Heidelberg, Victoria, Australia
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

  • 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.

  • Routine electrolyte monitoring is recommended post-adrenalectomy.

  • Risk factors for hypoaldosteronism include age >50 years, duration of hypertension >10 years, pre-existing renal impairment and adrenal adenoma size >2 cm.

  • 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.

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Ryizan Nizar Department of Diabetes and Endocrinology, Southmead Hospital, North Bristol NHS Trust, Bristol, UK

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Nathan W P Cantley Department of Clinical Biochemistry, Southmead Hospital, North Bristol NHS Trust, Bristol, UK

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Jonathan C Y Tang Norwich Medical School, University of East Anglia, Norwich Research Park, Norwich, UK

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Summary

A 33-year-old gentleman of Egyptian heritage presented with a 21 years history of unexplained and recurrent hypercalcaemia, nephrolithiasis, nephrocalcinosis, and myocarditis. A similar history was also found in two first-degree relatives. Further investigation into the vitamin D metabolism pathway identified the biochemical hallmarks of infantile hypercalcaemia type 1 (IIH). A homozygous, likely pathogenic, variant in CYP24A1 was found on molecular genetic analysis confirming the diagnosis. Management now focuses on removing excess vitamin D from the metabolic pathway as well as reducing calcium intake to achieve serum-adjusted calcium to the middle of the reference range. If undiagnosed, IIH can cause serious renal complications and metabolic bone disease.

Learning points

  • Infantile hypercalcaemia type 1 (IIH) is an autosomal recessive disorder characterised by homozygous mutations in the CYP24A1 gene that encodes the 24-hydroxylase enzyme used to convert active vitamin D metabolites such as 1,25-(OH)2-vitamin D into their inactive form.

  • IIH should be questioned in individuals presenting with a history of unexplained hypercalcaemia, especially if presenting from childhood and/or where there is an accompanying family history of the same in first and/or second degree relatives, causing complications such as nephrocalcinosis, pericarditis, and calcium-based nephrolithiasis.

  • Associated biochemistry of IIH is persistent mild to moderate hypercalcaemia, normal or raised 25-(OH)-vitamin D and elevated 1,25-(OH)2-vitamin D. An elevated ratio of 25-(OH)-vitamin D to 24,25-(OH)2-vitamin D can be a useful marker of defects in the 24-hydroxylase enzyme, whose measurement can be facilitated through the supra-regional assay service.

  • Management should focus on limiting the amount of vitamin D introduced into the body either via sunlight exposure or supplementation in addition to calcium dietary restriction to try and maintain appropriate calcium homeostasis

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Rachel Wurth Section on Endocrinology and Genetics, National Institutes of Health, Bethesda, Maryland, USA

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Abhishek Jha Section on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA

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Crystal Kamilaris Section on Endocrinology and Genetics, National Institutes of Health, Bethesda, Maryland, USA

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Anthony J Gill Cancer Diagnosis and Pathology Group, Kolling Institute of Medical Research, Royal North Shore Hospital St Leonards NSW 2065 Australian and Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia

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Nicola Poplawski Adult Genetics Unit, Royal Adelaide Hospital
Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia

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Paraskevi Xekouki Section on Endocrinology and Genetics, National Institutes of Health, Bethesda, Maryland, USA

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Martha M Quezado Laboratory of Pathology Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

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Karel Pacak Section on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA

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Constantine A Stratakis Section on Endocrinology and Genetics, National Institutes of Health, Bethesda, Maryland, USA

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Fady Hannah-Shmouni Section on Endocrinology and Genetics, National Institutes of Health, Bethesda, Maryland, USA

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Summary

Succinate dehydrogenase deficiency has been associated with several neoplasias, including renal cell carcinoma (RCC) and those associated with hereditary paraganglioma (PGL)/ pheochromocytoma (PHEO) syndromes, Carney dyad, and Carney triad. Carney triad is a rare multitumoral syndrome characterized by co-existing PGL, gastrointestinal stromal tumor (GIST), and pulmonary chondroma (CHO). We report a case of a 57-year-old male who presented with para-aortic and gastroesophogeal masses, and a right renal superior pole lesion, which were classified as multiple PGLs, a GIST, and a clear cell renal carcinoma, respectively, on pathology following surgical resection. Additionally, a CHO was diagnosed radiologically, although no biopsy was performed. A diagnosis of Carney triad was made. SDHB immunohistochemical staining was negative for the PGL and the GIST, indicating SDH-deficiency. Interestingly, the renal cell carcinoma (RCC) stained positive for both SDHB and SDHA. Subsequent genetic screening of SDH subunit genes revealed a germline inactivating heterozygous SDHA pathogenic variant (c.91 C>T, p.R31X). Loss of heterozygosity was not detected at the tumor level for the RCC, which likely indicated the SDHA variant would not be causative of the RCC, but could still predispose to the development of neoplasias. To the knowledge of the authors this is the first reported case of an SDHA pathogenic variant in a patient with Carney triad complicated by RCC.

Learning points

  • The succinate dehydrogenase enzyme is encoded by four subunit genes (SDHA, SDHB, SDHC, and SDHD; collectively referred to as SDHx), which have been implicated in several neoplasias and are classified as tumor suppressor genes.

  • Carney triad is a rare multiple-neoplasia syndrome presenting as an association of PGLs, GISTs, and CHOs.

  • Carney triad is most commonly associated with hypermethylation of SDHC as demonstrated in tumor tissue, but approximately 10% of cases are due to pathogenic SDHx variants.

  • Although SDHB pathogenic variants are most commonly reported in SDH-deficient renal cell carcinoma, SDHA disease-causing variants have been reported in rare cases.

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Ravikumar Ravindran Section of Endocrinology, YYF Hospital, Ystrad Fawr Way, Caerphilly, UK

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Justyna Witczak Section of Endocrinology, YYF Hospital, Ystrad Fawr Way, Caerphilly, UK

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Suhani Bahl Section of Endocrinology, YYF Hospital, Ystrad Fawr Way, Caerphilly, UK

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Lakdasa D K E Premawardhana Section of Endocrinology, YYF Hospital, Ystrad Fawr Way, Caerphilly, UK
Centre for Endocrine and Diabetes Sciences, University Hospital of Wales, Cardiff, UK

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Mohamed Adlan Section of Endocrinology, YYF Hospital, Ystrad Fawr Way, Caerphilly, UK

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Summary

A 53-year-old man who used growth hormone (GH), anabolic steroids and testosterone (T) for over 20 years presented with severe constipation and hypercalcaemia. He had benign prostatic hyperplasia and renal stones but no significant family history. Investigations showed – (1) corrected calcium (reference range) 3.66 mmol/L (2.2–2.6), phosphate 1.39 mmol/L (0.80–1.50), and PTH 2 pmol/L (1.6–7.2); (2) urea 21.9 mmol/L (2.5–7.8), creatinine 319 mmol/L (58–110), eGFR 18 mL/min (>90), and urine analysis (protein 4+, glucose 4+, red cells 2+); (3) creatine kinase 7952 U/L (40–320), positive anti Jo-1, and Ro-52 antibodies; (4) vitamin D 46 nmol/L (30–50), vitamin D3 29 pmol/L (55–139), vitamin A 4.65 mmol/L (1.10–2.60), and normal protein electrophoresis; (5) normal CT thorax, abdomen and pelvis and MRI of muscles showed ‘inflammation’, myositis and calcification; (6) biopsy of thigh muscles showed active myositis, chronic myopathic changes and mineral deposition and of the kidneys showed positive CD3 and CD45, focal segmental glomerulosclerosis and hypercalcaemic tubular changes; and (7) echocardiography showed left ventricular hypertrophy (likely medications and myositis contributing), aortic stenosis and an ejection fraction of 44%, and MRI confirmed these with possible right coronary artery disease. Hypercalcaemia was possibly multifactorial – (1) calcium release following myositis, rhabdomyolysis and acute kidney injury; (2) possible primary hyperparathyroidism (a low but detectable PTH); and (3) hypervitaminosis A. He was hydrated and given pamidronate, mycophenolate and prednisolone. Following initial biochemical and clinical improvement, he had multiple subsequent admissions for hypercalcaemia and renal deterioration. He continued taking GH and T despite counselling but died suddenly of a myocardial infarction.

Learning points:

  • The differential diagnosis of hypercalcaemia is sometimes a challenge.

  • Diagnosis may require multidisciplinary expertise and multiple and invasive investigations.

  • There may be several disparate causes for hypercalcaemia, although one usually predominates.

  • Maintaining ‘body image’ even with the use of harmful drugs may be an overpowering emotion despite counselling about their dangers.

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Yasuhiro Oda Nephrology Center, Toranomon Hospital, Tokyo, Japan

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Masayuki Yamanouchi Nephrology Center, Toranomon Hospital, Tokyo, Japan

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Hiroki Mizuno Nephrology Center, Toranomon Hospital, Tokyo, Japan

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Rikako Hiramatsu Nephrology Center, Toranomon Hospital, Tokyo, Japan

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Tatsuya Suwabe Nephrology Center, Toranomon Hospital, Tokyo, Japan

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Junichi Hoshino Nephrology Center, Toranomon Hospital, Tokyo, Japan
Okinaka Memorial Institute for Medical Research, Toranomon Hospital, Tokyo, Japan

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Naoki Sawa Nephrology Center, Toranomon Hospital, Tokyo, Japan

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Kenichi Ohashi Department of Pathology, Toranomon Hospital, Tokyo, Japan
Department of Pathology, Graduate School of Medicine, Yokohama City University, Yokohama, Japan

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Takeshi Fujii Department of Pathology, Toranomon Hospital, Tokyo, Japan

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Yoshifumi Ubara Nephrology Center, Toranomon Hospital, Tokyo, Japan
Okinaka Memorial Institute for Medical Research, Toranomon Hospital, Tokyo, Japan

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Summary

We report the renal histology of a 66-year-old man with hypertension, cardiovascular disease, and a 30-year history of type 2 diabetes mellitus with proliferative diabetic retinopathy, diabetic neuropathy, and diabetic foot status post toe amputation. Urinary protein excretion was 1.4 g/gCr, serum creatinine level 0.86 mg/dL, estimated glomerular filtration rate 69 mL/min/1.73 m2, and HbA1c 13–15%, despite using insulin. Light microscopy showed global glomerulosclerosis in 37% of the glomeruli, but the remaining glomeruli were intact. Significant polar vasculosis was present, while arteriolar sclerosis was mild. Electron microscopy revealed a thickened glomerular basement membrane, which is compatible with the early stage of diabetic glomerulopathy. The presented case was unique because glomerular changes seen typically in diabetes were not seen in the patient, despite the long-standing history of diabetes and diabetic comorbidities, while prominent polar vasculosis was found. Polar vascular formation helps preserve the glomeruli by allowing hyperosmotic blood bypass the glomeruli; this decreases intraglomerular pressure and minimizes glomerular endothelial damage.

Learning points:

  • A 66-year-old man with a 30-year history of type 2 diabetes mellitus with poor glycemic control underwent renal biopsy, which showed scarce glomerular changes typically seen in diabetic kidney disease and instead revealed significant polar vasculosis.

  • Past studies demonstrated that the increased small vessels around the vascular hilus in diabetic patients originated from the afferent arterioles and drained into the peritubular capillaries.

  • Polar vascular formation may preserve glomerular function by allowing the blood flow to bypass the glomeruli and decreasing the intraglomerular pressure, which minimizes endothelial damage of the glomerular tufts.

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Usman Javaid Department of Endocrinology, Newcastle-upon-Tyne Hospitals, Newcastle upon Tyne, UK

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Vikram Lal Department of Endocrinology, Newcastle-upon-Tyne Hospitals, Newcastle upon Tyne, UK

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Catherine Napier Department of Endocrinology, Newcastle-upon-Tyne Hospitals, Newcastle upon Tyne, UK

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Alison Burbridge Department of Neurorehabilitation, Northumbria, Tyne & Wear NHS Trust, Newcastle-upon-Tyne, UK

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Richard Quinton Department of Endocrinology, Newcastle-upon-Tyne Hospitals, Newcastle upon Tyne, UK
Institute of Genetic Medicine, University of Newcastle-upon-Tyne, Newcastle-upon-Tyne, UK

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Hypogonadal men may experience intense vasomotor symptoms, and vasomotor sweating can occasionally be associated with profound fluid losses. We describe a 37-year-old male, who exhibited persistent hypovolaemic hypernatraemia that was challenging to treat despite a continuous high fluid input (>4–5 L/day). He was noted to have drenching sweats and normochromic anaemia. He had recent traumatic head injury, which resulted in neurocognitive dysfunction, so pituitary function tests were done which showed primary hypogonadism. After exclusion of all other possible causes of excess sweating, hypernatraemia and anaemia, a trial of testosterone therapy was instituted. Sweating dramatically ceased within hours of his first testosterone injection, hydration status normalised within days and anaemia and neurocognitive function progressively improved with continued testosterone replacement. This case demonstrates how, in a susceptible individual, hypovolaemic hypernatraemia can arise from insensible cutaneous fluid loss through eccrine sweating, mediated by vasomotor symptoms of untreated hypogonadism. Although this scenario has not been described in the literature, we felt it needed to be shared with the wider medical community because of how the diagnosis and treatment utterly transformed this patient’s functional status and outcome.

Learning points:

  • Hypogonadal men may experience intense vasomotor symptoms and vasomotor sweating can occasionally be associated with profound fluid losses.

  • Whether or not there is also hyperosmolar hypernatraemia, clinicians should always consider the possibility of underlying hypogonadism in men with normocytic anaemia and excessive sweating.

  • Androgen (testosterone) replacement in hypogonadal men can have a dramatic effect on vasomotor sweating and hot flushes.

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Bilal Katipoglu Department of Internal Medicine, Ankara Numune Training and Research Hospital, Ankara, Turkey

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Ihsan Ates Department of Internal Medicine, Ankara Numune Training and Research Hospital, Ankara, Turkey

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Fatih Acehan Department of Internal Medicine, Ankara Numune Training and Research Hospital, Ankara, Turkey

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Ayşenur Meteris Department of Internal Medicine, Ankara Numune Training and Research Hospital, Ankara, Turkey

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Nisbet Yılmaz Department of Internal Medicine, Ankara Numune Training and Research Hospital, Ankara, Turkey

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Summary

Hypothyroidism is a wide clinical spectrum disorder and only a few cases in literature show this. Rhabdomyolysis and acute renal impairment can be seen concurrently in a hypothyroid state. We report a case of severe hypothyroidism with poor drug compliance leading to rhabdomyolysis and acute kidney injury.

Learning points:

  • Hypothyroidism is a rare cause of acute kidney injury.

  • In this case report, we studied a rare occurrence of acute renal impairment due to hypothyroidism with poor drug compliance, which induced rhabdomyolysis.

  • Our report emphasized that thyroid status should be evaluated in patients with unexplained acute renal impairment or presenting with the symptoms of muscle involvement.

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A Tabasum Diabetes and Endocrinology, Cardiff and Vale NHS Trust, Penlan Road, Penarth, Cardiff CF64 2XX, UK

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C Shute Diabetes and Endocrinology, Cardiff and Vale NHS Trust, Penlan Road, Penarth, Cardiff CF64 2XX, UK

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D Datta Biochemistry, Cardiff and Vale NHS Trust, Penlan Road, Penarth, Cardiff CF64 2XX, UK

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L George Diabetes and Endocrinology, Cardiff and Vale NHS Trust, Penlan Road, Penarth, Cardiff CF64 2XX, UK

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Summary

Hypokalaemia may present as muscle cramps and Cardiac arrhythmias. This is a condition commonly encountered by endocrinologists and general physicians alike. Herein, we report the case of a 43-year-old gentleman admitted with hypokalaemia, who following subsequent investigations was found to have Gitelman's syndrome (GS). This rare, inherited, autosomal recessive renal tubular disorder is associated with genetic mutations in the thiazide-sensitive sodium chloride co-transporter and magnesium channels in the distal convoluted tubule. Patients with GS typically presents at an older age, and a spectrum of clinical presentations exists, from being asymptomatic to predominant muscular symptoms. Clinical suspicion should be raised in those with hypokalaemic metabolic alkalosis associated with hypomagnesaemia. Treatment of GS consists of long-term potassium and magnesium salt replacement. In general, the long-term prognosis in terms of preserved renal function and life expectancy is excellent. Herein, we discuss the biochemical imbalance in the aetiology of GS, and the case report highlights the need for further investigations in patients with recurrent hypokalaemic episodes.

Learning points

  • Recurrent hypokalaemia with no obvious cause warrants investigation for hereditary renal tubulopathies.

  • GS is the most common inherited renal tubulopathy with a prevalence of 25 per million people.

  • GS typically presents at an older age and clinical suspicion should be raised in those with hypokalaemic metabolic alkalosis associated with hypomagnesaemia.

  • Confirmation of diagnosis is by molecular analysis for mutation in the SLC12A3 gene.

Open access