Diagnosis and Treatment > Signs and Symptoms > Sweating

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Anastasia Dimakopoulou
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Karunakaran Vithian Colchester Hospital University NHS Foundation Trust, Colchester, UK

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David Gannon Colchester Hospital University NHS Foundation Trust, Colchester, UK

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Allan Harkness Colchester Hospital University NHS Foundation Trust, Colchester, UK

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Summary

A 55-year-old female patient presented to the endocrine clinic with Grave's disease. She was initially treated with carbimazole. After an early relapse, a decision was made to proceed with radioactive iodine therapy. Four days after radioiodine administration, she presented to the emergency department with chest tightness and dyspnea due to heart failure. Biochemistry revealed thyrotoxicosis and significantly elevated Troponin-T. There was ST segment elevation on electrocardiography. However, coronary angiography was normal. Ventricular function was fully restored after 6 weeks of supportive medical management. A diagnosis of stress cardiomyopathy following radioactive iodine therapy was made. This is the second case reported in the literature so far to the best of our knowledge.

Learning points

  • Stress cardiomyopathy in the context of radiation thyroiditis is a rare complication following radioiodine therapy.

  • A degree of awareness is essential because the approach is multidisciplinary. Management is mainly supportive and cardiac dysfunction is completely reversible in most cases.

  • The pathogenesis of this condition remains unclear. Post-menopausal women and susceptible individuals appear to be pre-disposed.

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Annika Sjoeholm Department of Women's and Children's Health, University of Otago, Dunedin School of Medicine, PO Box 56, Dunedin 9054, New Zealand

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Cassandra Li Department of Women's and Children's Health, University of Otago, Dunedin School of Medicine, PO Box 56, Dunedin 9054, New Zealand

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Chaey Leem Department of Women's and Children's Health, University of Otago, Dunedin School of Medicine, PO Box 56, Dunedin 9054, New Zealand

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Aiden Lee Department of Women's and Children's Health, University of Otago, Dunedin School of Medicine, PO Box 56, Dunedin 9054, New Zealand

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Maria P Stack Paediatric Nephrology, Starship Children's Hospital, Auckland, New Zealand

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Paul L Hofman Liggins Institute, University of Auckland, Auckland, New Zealand

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Benjamin J Wheeler Department of Women's and Children's Health, University of Otago, Dunedin School of Medicine, PO Box 56, Dunedin 9054, New Zealand
Paediatric Endocrinology, Southern District Health Board, Dunedin, New Zealand

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Summary

Phaeochromocytomas are a rare clinical entity, with dual hormone-secreting lesions particularly uncommon, seen in <1%. ACTH is the most common hormone co-produced, and is potentially lethal if not diagnosed. We present the case of a previously well 10-year-old boy, who presented acutely with a hypertensive crisis and was found to have a unilateral, non-syndromic phaeochromocytoma. Medical stabilization of his hypertension was challenging, and took 3 weeks to achieve, before proceeding to unilateral adrenalectomy. Post-operatively the child experienced severe fatigue and was subsequently confirmed to have adrenal insufficiency. He improved markedly with hydrocortisone replacement therapy, which is ongoing 6 months post-operatively. In retrospect this likely represents unrecognized, sub-clinical ACTH-dependent Cushing's syndrome secondary to an ACTH/or precursor dual-hormone secreting phaeochromocytoma. At follow-up, his hypertension had resolved, there was no biochemical evidence of recurrence of the phaeochromocytoma, and genetic analysis was indicative of a sporadic lesion.

Learning points

  • Dual hormone secreting phaeochromocytomas with ACTH/or a precursor may cause secondary adrenal insufficiency following surgical removal.

  • The concurrent features of Cushing's syndrome can be mild and easily overlooked presenting diagnostic and management pitfalls.

  • As concomitant syndromes of hormone excess are rare in phaeochromocytomas; the diagnosis requires a high index of suspicion.

  • Serial/diurnal cortisol levels, ACTH measurement +/− low dose dexamethasone suppression (when clinically stable, appropriate adrenergic blockade in place, and well supervised), can all be considered as needed.

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Philip C Johnston Department of Endocrinology, Diabetes and Metabolism, Cleveland Clinic Foundation, 9500 Euclid Avenue Desk F20, Cleveland, Ohio 44195, USA

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Amir H Hamrahian Department of Endocrinology, Diabetes and Metabolism, Cleveland Clinic Foundation, 9500 Euclid Avenue Desk F20, Cleveland, Ohio 44195, USA

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Richard A Prayson Patholgy and Laboratory Medicine Institute, Rose Ella Burkhardt Brain Tumor and Neuro-Oncology Center, Cleveland Clinic, Cleveland, Ohio 44195, USA

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Laurence Kennedy Department of Endocrinology, Diabetes and Metabolism, Cleveland Clinic Foundation, 9500 Euclid Avenue Desk F20, Cleveland, Ohio 44195, USA

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Robert J Weil Department of Neurosurgery and the Neurological Institute, Rose Ella Burkhardt Brain Tumor and Neuro-Oncology Center, Cleveland Clinic, Cleveland, Ohio 44195, USA

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Summary

A 54-year-old woman presented with bi-temporal hemianopia, palpitations, and diaphoresis. An invasive pituitary macroadenoma was discovered. The patient had biochemical evidence of secondary hyperthyroidism and GH excess; however, she did not appear to be acromegalic. Surgical removal of the pituitary mass revealed a plurihormonal TSH/GH co-secreting pituitary adenoma. TSH-secreting adenomas can co-secrete other hormones including GH, prolactin, and gonadotropins; conversely, co-secretion of TSH from a pituitary adenoma in acromegaly is infrequent.

Learning points

  • This case highlights an unusual patient with a rare TSH/GH co-secreting pituitary adenoma with absence of the clinical features of acromegaly.

  • Plurihormonality does not always translate into the clinical features of hormonal excess.

  • There appears to be a clinical and immunohistochemical spectrum present in plurihormonal tumors.

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N Atapattu Lady Ridgeway Hospital, Colombo, Sri Lanka

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K A C P Imalke General Hospital, Matara, Sri Lanka

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M Madarasinghe General Hospital, Matara, Sri Lanka

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A Lamahewage General Hospital, Matara, Sri Lanka

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K S H de Silva Lady Ridgeway Hospital, Colombo, Sri Lanka
Department of Paediatrics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka

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Summary

Children rarely present with phaeochromocytoma. Their presentation differs from that of adults. The classic triad of sweating, headache and palpitation may not always present in children with phaeochromocytoma. In this study, we present a 6-year-old girl who came to us with polyuria and polydipsia for evaluation of suspected diabetes insipidus. She gave a clear history of increased sweating in the recent past. On clinical examination, she was noted to have high blood pressure. Subsequent investigations revealed a phaeochromocytoma. Her polyuria and hypertension resolved immediately after the surgery. We did not have the facilities to arrange for genetic tests; however, the patient and the family members are under follow-up for other associated conditions.

Learning points

  • Polyuria and polydipsia are rare symptoms of phaeochromocytoma.

  • Complete physical examination prevented unnecessary investigations for polyuria and led to a correct diagnosis.

  • Classic features are not always necessary for diagnostic evaluation of rare diseases.

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Durgesh Gowda Departments of Diabetes and Endocrinology

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Vasant Shenoy Departments of Diabetes and Endocrinology

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Usman Malabu Departments of Diabetes and Endocrinology

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Donald Cameron Surgery, The Townsville Hospital, Townsville, Queensland, Australia

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Kunwarjit Sangla Departments of Diabetes and Endocrinology

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Summary

Our patient had drainage of a large amoebic liver abscess. This got complicated by a severe degree of hypotension, which required aggressive fluid resuscitation and hydrocortisone support. Computerised tomography (CT) of the abdomen revealed bilateral adrenal gland haemorrhage (BAH) resulting in primary adrenal gland failure, which was the cause for hypotension. Patient was on long-term warfarin for provoked deep vein thrombosis of lower limb, which was discontinued before the procedure. Thrombophilia profile indicated the presence of lupus anticoagulant factor with prolonged activated partial thromboplastin time (aPTT). Patient was discharged on lifelong warfarin. This case emphasises the need for strong clinical suspicion for diagnosing BAH, rare but life-threatening condition, and its association with amoebic liver abscess and anti-phospholipid antibody syndrome (APLS).

Learning points

  • Recognition of BAH as a rare complication of sepsis.

  • APLS can rarely cause BAH.

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Shweta Birla Laboratory of Cyto-Molecular Genetics, Department of Anatomy

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Sameer Aggarwal Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi, India

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Arundhati Sharma Laboratory of Cyto-Molecular Genetics, Department of Anatomy

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Nikhil Tandon Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi, India

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Summary

Carney complex (CNC) is a rare autosomal dominant syndrome characterized by pigmented lesions of the skin and mucosae along with cardiac, endocrine, cutaneous, and neural myxomatous tumors. Mutations in the PRKAR1A gene have been identified in ∼70% of the CNC cases reported worldwide. A 30-year-old male was referred to the endocrinology clinic with suspected acromegaly. He had a history of recurrent atrial myxoma for the past 8 years for which he underwent repeated surgeries. Presently, he complained of having headache, excessive snoring, sweating, and also noticed increase in his shoe size. Evaluation for acromegaly revealed elevated levels of GH in random as well as in suppressed condition. Magnetic resonance imaging scan revealed enlarged sella with microadenoma in the left anterior pituitary. Screening of PRKAR1A gene was carried out for the patient, his parents and siblings who were available and willing to undergo the test. The patient was diagnosed to have the rare CNC syndrome characterized by recurrent atrial myxoma and acromegaly due to a novel 22 bp insertion mutation in PRKAR1A which was predicted to be deleterious by in silico analysis. Screening the available family members revealed the absence of this mutation in them except the elder brother who also tested positive for this mutation. The present study reports on a novel PRKAR1A insertion mutation in a patient with acromegaly and left atrial myxoma in CNC.

Learning points

  • Identification of a novel deleterious PRKAR1A insertion mutation causing CNC.

  • It is important that patients with cardiac myxoma be investigated for presence of endocrine overactivity suggestive of CNC.

  • PRKAR1A mutation analysis should be undertaken in such cases to confirm the diagnosis in the patients as well as first degree relatives.

  • This case highlights an important aspect of diagnosis, clinical course, and management of this rare condition.

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Roberto Salvatori Division of Endocrinology, Diabetes and Metabolism, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

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Adrian F Daly Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium

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Alfredo Quinones-Hinojosa Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

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Albert Thiry Department of Pathology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium

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Albert Beckers Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium

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Summary

Heterozygous germline inactivating mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene lead to pituitary adenomas that most frequently present in the setting of familial isolated pituitary adenoma syndrome, usually as somatotropinomas and prolactinomas. More recently, they have been found in a significant percentage of young patients presenting with pituitary macroadenoma without any apparent family history. We describe the case of a 19-year-old man who presented with a gigantic somatotropinoma. His family history was negative. His peripheral DNA showed a heterozygous AIP mutation (p.I13N), while tumor tissue only had the mutated allele, showing loss of heterozygosity (LOH) and suggesting that the mutation caused the disease.

Learning points

  • AIP mutations may be observed in sporadic somatotrope adenomas occurring in young patients.

  • LOH is a strong indicator that an AIP variant is disease causing.

  • Somatotrope adenomas in carriers of AIP mutations are generally larger and more difficult to cure.

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Ramez Ibrahim Royal Hallamshire Hospital, Sheffield, UK

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Atul Kalhan University Hospital of Wales, Cardiff, UK

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Alistair Lammie Cardiff University, Cardiff, UK

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Christine Kotonya Bronglais Hospital, Aberystwyth, UK

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Ravindra Nannapanenni University Hospital of Wales, Cardiff, UK

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Aled Rees Institute of Molecular and Experimental Medicine, Cardiff University, Cardiff, UK

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Summary

A 30-year-old female presented with a history of secondary amenorrhoea, acromegalic features and progressive visual deterioration. She had elevated serum IGF1 levels and unsuppressed GH levels after an oral glucose tolerance test. Magnetic resonance imaging revealed a heterogeneously enhancing space-occupying lesion with atypical extensive calcification within the sellar and suprasellar areas. Owing to the extent of calcification, the tumour was a surgical challenge. Postoperatively, there was clinical, radiological and biochemical evidence of residual disease, which required treatment with a somatostatin analogue and radiotherapy. Mutational analysis of the aryl hydrocarbon receptor-interacting protein (AIP) gene was negative. This case confirms the relatively rare occurrence of calcification within a pituitary macroadenoma and its associated management problems. The presentation, biochemical, radiological and pathological findings are discussed in the context of the relevant literature.

Learning points

  • Calcification of pituitary tumours is relatively rare.

  • Recognising calcification in pituitary adenomas on preoperative imaging is important in surgical decision-making.

  • Gross total resection can be difficult to achieve in the presence of extensive calcification and dictates further management and follow-up to achieve disease control.

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