Patient Demographics > Ethnicity > White

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Ziad Hussein Department of Endocrinology, University College London Hospital, London, UK
Department of Medicine, University College London, London, UK

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Marta Korbonits William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK

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Stephanie E Baldeweg Department of Endocrinology, University College London Hospital, London, UK
Department of Medicine, University College London, London, UK

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Teng-Teng Chung Department of Endocrinology, University College London Hospital, London, UK

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Summary

We observed a novel therapeutic response with cabergoline in a male patient with a dopamine-secreting head and neck paraganglioma (HNPGL), macroprolactinoma and germline succinate dehydrogenase C mutation (SDHC). The macroprolactinoma was treated with cabergoline which gave an excellent response. He was found to have raised plasma 3-methoxytyramine of 1014 pmol/L (NR: 0–180 pmol/L); but it was unclear if this was a drug-induced phenomenon from dopamine agonist (DA) therapy. Cabergoline was stopped for 4 weeks and the 3-methoxytyramine level increased significantly to 2185 pmol/L, suggesting a biochemical response of his HNPGL. Subsequently, Gallium-68 Dotatate PET and MRI (Gallium-68 Dotatate PET/MRI) demonstrated a second lesion in the sacrum. Both the HNPGL and metastatic sacral deposit received external beam radiotherapy with a good biochemical and radiological response.

Conclusion

Our case report highlights the rare potential of germline SDHC mutations causing metastatic paraganglioma and concurrent pituitary tumours. Cabergoline treatment may lower elevated 3-methoxytyramine levels and, therefore, mask the biochemical evidence of metastatic disease but also may have therapeutic relevance in dopamine-secreting pheochromocytomas/paragangliomas (PPGLs).

Learning points

  • Several neuroendocrine tumours (NETs) express dopamine D2 and D4 receptors. In this case report, cabergoline significantly reduced plasma 3-methoxytyramine level in a patient with functional HNPGL. Cabergoline might have therapeutic relevance in dopamine-secreting PPGLs.

  • Paragangliomas associated with SDHC mutation classically present with asymptomatic non-functional HNPGL and have rare metastatic potential.

  • The association of pheochromocytoma or paraganglioma and pituitary adenoma is now a well-described rare association (<1%), designated as the three P association. While the three P association is most commonly seen with succinate dehydrogenase B and D mutations, it has also been described in patients with SDHA and SDHC mutations.

  • Cabergoline treatment may lower elevated 3-methoxytyramine levels and mask the biochemical evidence of metastatic disease. Regular functional imaging with Gallium-68 Dotatate PET/MRI provides better evidence of metastatic disease.

Open access
Vinaya Srirangam Nadhamuni Department of Endocrinology, Barts and the London School of Medicine and Dentistry, William Harvey Research Institute, Queen Mary University of London, London, UK

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Donato Iacovazzo Department of Endocrinology, Barts and the London School of Medicine and Dentistry, William Harvey Research Institute, Queen Mary University of London, London, UK

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Jane Evanson St. Bartholomew’s Hospital, Barts and the London NHS Trust, London, UK

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Anju Sahdev St. Bartholomew’s Hospital, Barts and the London NHS Trust, London, UK

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Jacqueline Trouillas Department of Pathology, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France

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Lorraine McAndrew St. Bartholomew’s Hospital, Barts and the London NHS Trust, London, UK

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Tom R Kurzawinski Division of Endocrine Surgery, University College Hospital, London, UK

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David Bryant Sunderland Royal Hospital, South Tyneside and Sunderland NHS Foundation Trust, South Shields, Tyne and Wear, UK

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Khalid Hussain Division of Endocrinology, Sidra Medicine, Doha, Ad Dawhah, Qatar

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Satya Bhattacharya St. Bartholomew’s Hospital, Barts and the London NHS Trust, London, UK

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Márta Korbonits Department of Endocrinology, Barts and the London School of Medicine and Dentistry, William Harvey Research Institute, Queen Mary University of London, London, UK

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Summary

A male patient with a germline mutation in MEN1 presented at the age of 18 with classical features of gigantism. Previously, he had undergone resection of an insulin-secreting pancreatic neuroendocrine tumour (pNET) at the age of 10 years and had subtotal parathyroidectomy due to primary hyperparathyroidism at the age of 15 years. He was found to have significantly elevated serum IGF-1, GH, GHRH and calcitonin levels. Pituitary MRI showed an overall bulky gland with a 3 mm hypoechoic area. Abdominal MRI showed a 27 mm mass in the head of the pancreas and a 6 mm lesion in the tail. Lanreotide-Autogel 120 mg/month reduced GHRH by 45% and IGF-1 by 20%. Following pancreaticoduodenectomy, four NETs were identified with positive GHRH and calcitonin staining and Ki-67 index of 2% in the largest lesion. The pancreas tail lesion was not removed. Post-operatively, GHRH and calcitonin levels were undetectable, IGF-1 levels normalised and GH suppressed normally on glucose challenge. Post-operative fasting glucose and HbA1c levels have remained normal at the last check-up. While adolescent-onset cases of GHRH-secreting pNETs have been described, to the best of our knowledge, this is the first reported case of ectopic GHRH in a paediatric setting leading to gigantism in a patient with MEN1. Our case highlights the importance of distinguishing between pituitary and ectopic causes of gigantism, especially in the setting of MEN1, where paediatric somatotroph adenomas causing gigantism are extremely rare.

Learning points

  • It is important to diagnose gigantism and its underlying cause (pituitary vs ectopic) early in order to prevent further growth and avoid unnecessary pituitary surgery. The most common primary tumour sites in ectopic acromegaly include the lung (53%) and the pancreas (34%) (1): 76% of patients with a pNET secreting GHRH showed a MEN1 mutation (1).

  • Plasma GHRH testing is readily available in international laboratories and can be a useful diagnostic tool in distinguishing between pituitary acromegaly mediated by GH and ectopic acromegaly mediated by GHRH. Positive GHRH immunostaining in the NET tissue confirms the diagnosis.

  • Distinguishing between pituitary (somatotroph) hyperplasia secondary to ectopic GHRH and pituitary adenoma is difficult and requires specialist neuroradiology input and consideration, especially in the MEN1 setting. It is important to note that the vast majority of GHRH-secreting tumours (lung, pancreas, phaeochromocytoma) are expected to be visible on cross-sectional imaging (median diameter 55 mm) (1). Therefore, we suggest that a chest X-ray and an abdominal ultrasound checking the adrenal glands and the pancreas should be included in the routine work-up of newly diagnosed acromegaly patients.

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John Alexander Endocrinology and Diabetes, Mid-Yorkshire NHS Trust, Wakefield, England

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Dinesh Nagi Endocrinology and Diabetes, Mid-Yorkshire NHS Trust, Wakefield, England

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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.

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Ann-Elin Meling Stokland Department of Endocrinology, Stavanger University Hospital, Stavanger, Norway

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Anne Lise Dahle Department of Internal Medicine, Haugesund Hospital, Haugesund, Norway

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Vidar Laurits Kloster Department of Radiology, Haugesund Hospital, Haugesund, Norway

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Torbjørn Nedrebø Department of Anaesthesia, Haraldsplass Deaconess Hospital, Bergen, Norway
Department of Clinical Science, University of Bergen, Bergen, Norway

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Bjørn Gunnar Nedrebø Department of Internal Medicine, Haugesund Hospital, Haugesund, Norway
Department of Clinical Science, University of Bergen, Bergen, Norway

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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.

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Su Ann Tee Department of Endocrinology, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, UK

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Paul Brennan Departmentof Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, UK

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Anna L Mitchell Department of Endocrinology, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, UK

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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.

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Ayesha Ghayur Department of Medicine, McMaster University, Hamilton, Ontario, Canada

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Qurrat Elahi Department of Family Medicine, Pikeville Medicine Center, Pikeville, Kentucky, USA

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Chinmay Patel Department of Nephrology, Southern Kidney Associates, Shreveport, LA, USA

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Rishi Raj Division of Endocrinology, Diabetes and Metabolism, Department of Internal Medicine, Pikeville Medical Center, Pikeville, Kentucky, USA

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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.

Open access
Maria Batool Academic Department of Endocrinology, Royal College of Surgeons of Ireland

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David Fennell Academic Department of Endocrinology, Royal College of Surgeons of Ireland

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David Slattery Academic Department of Endocrinology, Royal College of Surgeons of Ireland

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Eamon Leen Departments of Radiology, Respiratory Medicine, and Histopathology, Connolly Hospital, Blanchardstown, Dublin, Ireland

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Liam Cormican Departments of Radiology, Respiratory Medicine, and Histopathology, Connolly Hospital, Blanchardstown, Dublin, Ireland

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Seamus Sreenan Academic Department of Endocrinology, Royal College of Surgeons of Ireland

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John H McDermott Academic Department of Endocrinology, Royal College of Surgeons of Ireland

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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
Laura Marino Department of Service of Endocrinology, Diabetes, and Metabolism, Faculty of Biology and Medicine, University of Lausanne, Lausanne University Hospital, Lausanne, Vaud, Switzerland

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Andrea Messina Department of Service of Endocrinology, Diabetes, and Metabolism, Faculty of Biology and Medicine, University of Lausanne, Lausanne University Hospital, Lausanne, Vaud, Switzerland

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James S Acierno Department of Service of Endocrinology, Diabetes, and Metabolism, Faculty of Biology and Medicine, University of Lausanne, Lausanne University Hospital, Lausanne, Vaud, Switzerland

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Franziska Phan-Hug Department of Service of Endocrinology, Diabetes, and Metabolism, Faculty of Biology and Medicine, University of Lausanne, Lausanne University Hospital, Lausanne, Vaud, Switzerland

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Nicolas J Niederländer Department of Service of Endocrinology, Diabetes, and Metabolism, Faculty of Biology and Medicine, University of Lausanne, Lausanne University Hospital, Lausanne, Vaud, Switzerland

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Federico Santoni Department of Service of Endocrinology, Diabetes, and Metabolism, Faculty of Biology and Medicine, University of Lausanne, Lausanne University Hospital, Lausanne, Vaud, Switzerland

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Stefano La Rosa Department of Laboratory Medicine and Pathology, Centre Hospitalier Universitaire Vaudois, Lausanne, Vaud, Switzerland

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Nelly Pitteloud Department of Service of Endocrinology, Diabetes, and Metabolism, Faculty of Biology and Medicine, University of Lausanne, Lausanne University Hospital, Lausanne, Vaud, Switzerland

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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.

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David Joseph Tansey Department of Endocrinology, Mater Misericordiae University Hospital, Dublin, Ireland

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Jim John Egan Department of Respiratory Medicine and Lung & Heart Transplantation, Mater Misericordiae University Hospital, Dublin, Ireland
UCD School of Medicine, University College Dublin, Belfield, Dublin, Ireland

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Michelle Murray Department of Respiratory Medicine and Lung & Heart Transplantation, Mater Misericordiae University Hospital, Dublin, Ireland
UCD School of Medicine, University College Dublin, Belfield, Dublin, Ireland

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Katie Padfield Department of Anesthesia, Mater Misericordiae University Hospital, Dublin, Ireland
UCD School of Medicine, University College Dublin, Belfield, Dublin, Ireland

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John Conneely Department of General Surgery, Mater Misericordiae University Hospital, Dublin, Ireland
UCD School of Medicine, University College Dublin, Belfield, Dublin, Ireland

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Mensud Hatunic Department of Endocrinology, Mater Misericordiae University Hospital, Dublin, Ireland
UCD School of Medicine, University College Dublin, Belfield, Dublin, Ireland

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Summary

Phaeochromocytoma is a rare catecholamine-producing tumour. We present the case of phaeochromocytoma in a young man with a background history of a double-lung transplant for cystic fibrosis (CF). Clinical case: A 25-year-old man, with a background history of CF, CF-related diabetes (CFRD) and a double-lung transplant in 2012 was presented to the emergency department with crampy abdominal pain, nausea and vomiting. He was diagnosed with distal intestinal obstructions syndrome (DIOS). Contrast-enhanced CT imaging of the abdomen and pelvis showed a 3.4 cm right adrenal lesion. This was confirmed by a subsequent MRI of adrenal glands that demonstrated moderate FDG uptake, suggestive of a diagnosis of phaeochromocytoma. The patient was noted to be hypertensive with a blood pressure averaging 170/90 mm/Hg despite treatment with three different anti-hypertensive medications – amlodipine, telmisartan and doxazosin. He had hypertension for the last 3 years and had noted increasingly frequent sweating episodes recently, without palpitations or headache. Laboratory analysis showed elevated plasma normetanephrines (NMN) of 3167 pmol/L (182–867) as well as elevated metanephrines (MN) of 793 pmol/L (61–377) and a high 3-MT of 257 pmol/L (<185). Once cathecholamine excess was identified biochemically, we proceeded to functional imaging to further investigate. MIBG scan showed a mild increase in the uptake of tracer to the right adrenal gland compared to the left. The case was discussed at a multidisciplinary (MDT) meeting at which the diagnosis of phaeochromocytoma was made. Following a challenging period of 4 weeks to control the patient’s blood pressure with an alpha-blocker and beta-blocker, the patient had an elective right adrenalectomy, with normalisation of his blood pressure post-surgery. The histopathology of the excised adrenal gland was consistent with a 3 cm phaeochromocytoma with no adverse features associated with malignant potential.

Learning points

  • Five to ten per cent of patients have a secondary cause for hypertension. Phaeochromocytomas are rare tumours, originating in chromaffin cells and they represent 0.1–1.0% of all secondary hypertension cases.

  • Secondary causes should be investigated in cases where:

  • Patient is presenting <20 years of age or >50 years of age,

  • There is refractory hypertension, or

  • There is serious end-organ damage present.

  • Patients may present with the triad of headache, sweating and palpitations or more vague, non-specific symptoms.

  • Patients with suspected phaeochromocytoma should have 24-h urinary catecholamines measured and if available, plasma metanephrines measured. Those with abnormal biochemical tests should be further investigated with imaging to locate the tumour.

  • Medical treatment involves alpha- and beta-blockade for at least 2 to 3 weeks before surgery as well as rehydration.

  • There is a possibility of relapse so high-risk patients require life-long follow-up.

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Angelika Mohn Department of Pediatrics, University of Chieti, Chieti, Italy

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Nella Polidori Department of Pediatrics, University of Chieti, Chieti, Italy

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Chiara Aiello Department of Neurosciences, Department of Pediatrics, IRCCS Bambino Gesù Children's Hospital, Rome, Italy

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Cristiano Rizzo Division of Metabolism and Research Unit of Metabolic Biochemistry, Department of Pediatrics, IRCCS Bambino Gesù Children's Hospital, Rome, Italy

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Cosimo Giannini Department of Pediatrics, University of Chieti, Chieti, Italy

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Francesco Chiarelli Department of Pediatrics, University of Chieti, Chieti, Italy

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Marco Cappa Unit of Endocrinology, Department of Pediatrics, IRCCS Bambino Gesù Children's Hospital, Rome, Italy

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Summary

Adrenoleukodystrophy is a peroxisomal X-linked recessive disease caused by mutations in the ABCD1 gene, located on the X-chromosome (Xq28). Gene mutations in patient with adrenoleukodystrophy induce metabolic alterations characterized by impaired peroxisomal beta-oxidation and accumulation of very long chain fatty acid (VLCFA) in plasma and in all tissues. Although nutritional intervention associated with a various mixture of oil prevents the accumulation of VLCFA, to date no causal treatment is available. Therefore, haematopoietic stem cell transplantation (HSCT) and gene therapy are allowed only for very early stages of cerebral forms diagnosed during childhood.We reported a case series describing five family members affected by X-linked adrenoleukodystrophy caused by a novel mutation of the ABCD1 gene. Particularly, three brothers were affected while the sister and mother carried the mutation of the ABCD1 gene. In this family, the disease was diagnosed at different ages and with different clinical pictures highlighting the wide range of phenotypes related to this novel mutation. In addition, these characteristics stress the relevant role of early diagnosis to properly set a patient-based follow-up.

Learning points

  • We report a novel mutation in the ABCD1 gene documented in a family group associated to an X-ALD possible Addison only phenotype.

  • All patients present just Addison disease but with different phenotypes despite the presence of the same mutations. Further follow-up is necessary to complete discuss the clinical development.

  • The diagnosis of ALD needs to be included in the differential diagnosis in all patients with idiopathic PAI through accurate evaluation of VLCFA concentrations and genetic confirmation testing.

  • Early diagnosis of neurological manifestation is important in order to refer timely to HSCT.

  • Further follow-up of these family members is necessary to characterize the final phenotype associated with this new mutation.

Open access