Endocrine Abstracts

We present the case of a young man who had been known to the endocrine department with difficult to control hyperthyroidism and atrial fibrillation. After a period of treatment with carbimazole, during which he missed several appointments, he was referred for radioactive iodine therapy, which was administered in January 2013. He failed to attend for follow-up appointments and continued to take carbimazole.He was subsequently referred to the acute medicin...

A 34-year-old lady with previous renal stones, constipation and well controlled bipolar mood disorder, on lithium for 13 years, was referred with a high calcium of 2.75 mmol/l (normal range: 2.10–2.58 mmol/l) and raised parathyroid hormone of 9.1 pmol/l (normal range: 1.1–4.2 pmol/l). Urine calcium excretion and TFT were normal.The biochemistry was consistent with primary hyperparathyroidism. A workup for possible underlying MEN syndrome came b...

Context: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is caused by mutations in the autoimmune regulator (AIRE) gene and is characterised by the presence of chronic mucocutaneous candidiasis, hypoparathyroidism and Addison’s disease. Patients typically display organ-specific autoantibodies which correlate with a particular clinical manifestation. Previous studies have identified the parathyroid-expressed calcium-sensing receptor (CaSR) as an aut...

Introduction: TKI are an emerging group of anti-growth factor agents used in the treatment of solid cancers. Treatment is associated with thyroid dysfunction. Sunitinib is licensed for the treatment of metastatic RCC. Our objective was to determine the incidence of Sunitinib induced thyroid dysfunction and its management in patients with renal RCC.Methods: Retrospective case note analysis of patients started on Sunitinib for metastatic RCC between Januar...

Introduction: Phaeochromocytoma is a rare condition. It presents with non-specific symptoms of palpitations, headache and hypertension. Such symptoms in a patient with background of previous medullary thyroid carcinoma cannot be ignored and would warrant further investigation to exclude MEN II.Case report: A 45-year-old gentleman presents with labile hypertension, headaches and palpitations. He has a history of a recurrent medullary thyroid carcinoma pre...

Aim: To evaluate the management of patients with hyperthyroidism against recommendations of the American Thyroid Association (ATA).Methods: The case records of all new patients referred with hyperthyroidism, 02.05.2009–01.04.2011, were analysed (n=33), against recommendations of ATA.Results: 73% of the subjects were women. 24% patients had Graves’ disease, 18% MNG, 18% thyroiditis, 15% ‘autoimmune hyperthyr...

Autoimmune diseases (ADs) are conditions under which an individual develops antibodies against their own cells, tissues and/or organ systems. Rheumatoid arthritis (RA) is a chronic multi system disease of unknown cause with multiple systemic manifestations. Autoimmune thyroid disease (ATD) are characterized by the presence of antibodies against thyroglobulin, thyroid peroxidase, or thyrotropin receptor autoantigens. The relationship between RA and the thyroid gland has been st...

Aim: Establishing the aetiological diagnosis of hyperthyroidism relies on clinical examination, ultrasound imaging and thyroid antibodies; however there is a wide variation in practice in which of the aforementioned approaches are used. The aim of our study was to assess the reliability of clinical examination of thyroid gland in patients with hyperthyroidism, using ultrasound (US) as the reference.Methods: Case notes and letters of patients of 133 patie...

Thyroid hormone resistance is a rare but recognised cause of clinical hypothyroidism. We explain a case of clinical hypothyroidism that was associated with thyroid hormone resistance.A 48-year Caucasian female with no known personal or family endocrine history was referred with a 12-month-history of weight gain and increased tiredness. Past history included depression and osteoarthritis, with regular medications being NSAIDs and amitryptiline. There was ...

Aims: To look at the demographics, biochemistry, treatments used, clinical characteristics associated with radioiodine (RI) treatment (including those with relapse) for thyrotoxicosis in our Endocrine clinic.Methods: Electronic records of all thyrotoxic patients between 2010 and 2012.Results: 144 patients, mean age 56 years (114 females)–106 Graves, 24 toxic adenoma (TA) and 14 multi nodular goitre (MNG). TPO antibody was posi...

Background: While few hypothyroid patients require more than the expected weight related dose of levothyroxine, the underlying causes of larger-than-expected dosing requirements have not been studied in a single cohort. Our aim was to determine and quantify the multiple factors contributing to high dose levothyroxine requirements in a cohort of patients with hypothyroidism.Methods: The Grampian Automated Follow-Up Register (GAFUR) monitors around 17 500 ...

Background: Neutropenia due to anti-thyroid drug (ATD) therapy in Graves’ disease is rare but is well recognised. However, the effect of hyperthyroidism, prior to and after ATD therapy, on absolute neutrophil counts in patients with Graves’ disease is unclear.Methods: We noted neutrophil levels in consecutive patients with newly diagnosed Graves’ thyrotoxicosis in 2010–2013. We further noted neutrophil levels once patients had been tr...

Background: During pregnancy, the immune system is suppressed. Therefore, autoimmune thyroid disorders (AITD) rarely appear in that period for the first time.Case report: We present a case of a 30-year-old female firstly referred to our department in the 25th week of pregnancy because of 14-day-lasting arterial hypertension. At the systolic blood pressure between 140 and 160 mmHg, her dyastolic blood pressure was between 60 and 70 mmHg. She had been norm...

Introduction: Pendred syndrome is a rare autosomal recessive condition characterised by sensorineural deafness, goitre and impaired iodine organification. We report a case of a 43-year-old female who presented with hearing impairment, and the development of a multinodular goitre with tracheal compression. Perchlorate testing and genetic studies confirmed a diagnosis of Pendred syndrome. She subsequently underwent partial thyroidectomy and requires lifelong follow-up.<p cla...

Thyroid growth and differentiation are regulated by TSH via its receptor (TSHR), whilst growth factors signal in parallel via the MAPK/ERK and PI3K/AKT pathways. Aberrant thyroid growth is largely driven by molecular alterations within these signalling pathways. The proto-oncogene pituitary tumor-transforming gene-binding factor (PBF) is expressed in normal thyroid and upregulated in human goitre and thyroid cancer. High PBF expression is associated with tumour recurrence, dis...

Objective: A review of the efficacy and safety of radioiodine treatment for Graves’ disease.Methodology: Patients were identified following a search of the nuclear medicine departmental database. Consecutive patients who had radioiodine in 3-year period from January 2009 to December 2011 were included in the audit. Information was obtained from medical notes, blood results and nuclear medicine database. Data was analysed using Microsoft Excel.<p...

Case history: A 22-year-old lady was referred to the thyroid eye clinic with bilateral proptosis following a routine visit to the opticians. She had a 2-year history of thyrotoxic symptoms, which had been getting worse over the past 4 months.She had signs of severe thyrotoxicosis and was clinically in atrial fibrillation (AF) with a central heart rate of 195 beats/min. Neck palpation revealed a moderate-sized smooth and symmetrical goitre with no bruits ...

Dysregulation of the processing and stability of mRNA encoding oncogenes or tumour suppressor proteins is a critical event in the pathogenesis of cancer. Previously, we demonstrated that the proto-oncogene PTTG-binding factor (PBF) is overexpressed in thyroid, pituitary and breast tumours. Critically, high PBF expression is associated with reduced disease-specific survival in thyroid cancer. However, the mechanisms responsible for regulating PBF expression are unknown. In this...

Background: The severe neurodevelopmental phenotype of untreated congenital hypothyroidism exemplifies the critical role of thyroid hormones (TH) in CNS development, acting via thyroid hormone receptor α1 (TRα1) on cortical neurogenesis, cerebellar development and oligodendrocyte differentiation. We have identified the first humans with defective TRα1 and investigated neurocognitive phenotype and CNS abnormalities in this disorder.Methods:...

Aims: To assess the diagnosis and management of patients with thyrotoxicosis in a district general hospital comparing with American Thyroid Association (ATA) recommendations.Methods: Retrospective study, electronic case notes of patients referred to the endocrine clinic between May 2009 and April 2011 (n=148) were reviewed. A pro-forma was designed collecting details of demographics, investigations, diagnosis and treatments received.<p class...

We present a case of 76-year-old male who attended acute medical unit with 3 week history of confusion, slurred speech and reduced mobility. One month prior to his admission he was diagnosed with severe hypothyroidism with TSH of 100 mU/l and T4 of 1.9 pmol/l and significantly positive anti-peroxidase antibodies (561 IU/ml) and was started on 100 μg of levothyroxine by his GP. During his admission his confusion persisted despite antibiotics for presumed chest i...

Aim: Diagnosis of Graves’ is generally based on clinical presentation and physical examination of thyroid gland. The general assumption is that the thyroid gland is usually normal or diffusely enlarged in Graves’ disease. The aim of our retrospective observational analysis was to establish the ultrasonographic morphology of the thyroid gland in patients with Graves’ disease.Methods: We analysed the case records and biochemical investigatio...

Transient mild hyperthyroidism is fairly common in women with hyperemesis gravidarum, occurring in up to two-thirds of them. It is also a well known fact that pregnant women with severe hyperemesis gravidarum can progress to develop Wernicke’s encephalopathy. Hyperthyroidism, without any other risk factors, has been described to accelerate the process of thiamine depletion as well. This is much less recognised.We describe the case of a 32-year-old P...

Background: The majority of thyroid nodules are clinically insignificant, however considerable overlap in radiological characteristics exists for benign and malignant lesions. Recently, validated radiological criteria using thyroid imaging reporting and data system scoring (TIRADS) have shown correlation between cumulative suspicious features and risk of malignancy1.Objective: To assess sensitivity, specificity and reliability of ultrasound sc...

Introduction: Approximately 400 thyroid fine needle aspirates (FNAs) are performed annually at our institution. Many are repeat aspirates of Thy2 results. Current British Thyroid Association (BTA) and Royal College of Pathologists (RCPath) guidelines recommend two FNAs performed at least 6 months apart to confirm a benign result. Our aim was to investigate whether one Thy2 result is sufficient to confirm benign pathology.Method: A retrospective analysis ...

Follicular thyroid cancer is the second most common cause of thyroid carcinoma. Metastasis occurs in 10–15% of cases. Typical sites of metastasis include bone and lungs, scalp metastasis are rare, with <50 cases reported. We describe two such cases.A retrospective chart review was performed on these patients, examining presentation, treatment and subsequent outcomes.Patient 1. An abnormal lesion was noted on a routine ches...

Hypoxia is a primary stimulus for angiogenesis, which is important for tumour proliferation and survival. The effects of hypoxia on parathyroid tumour cells, which may be important for parathyroid autotransplantation in patients, are however, not known. We therefore assessed the effects of hypoxia on gene expression in parathyroid adenoma cells from patients with primary hyperparathyoridism. Cell suspensions from human parathyroid adenomas (n=5) were cultured and afte...

Introduction: There is a rare but well documented association between thymic hyperplasia and Graves’ disease particularly in young patients. It is important to recognise this as patients presenting with an anterior mediastinal mass will often undergo extensive investigations to exclude an underlying lymphoproliferative disorder.Case study: A 19-year-old female with symptomatic Graves’ thyrotoxicosis (TSH <0.01 mU/l; FT4 46.8 pmol...

Introduction: We report a case of severe thyrotoxic cardiomyopathy, a potentially life threatening complication of thyrotoxicosis.Case report: A female, age 47, usually fit and well, presented to the GP with 4 week history of feeling generally unwell, intermittent palpitations and right leg swelling. Ultrasound ruled out a DVT. She developed shortness of breath, heat intolerance, tremor, weight loss, generalized body swelling. She noticed change in her v...

We present two patients who have increased uptake in the thyroid on PET imaging.Mrs AN is a 76-year-old woman with hypertension, atrial fibrillation, deep vein thrombosis and primary autoimmune hypothyroidism with positive TPO antibodies on thyroxine. When abroad she had a carotid USS which discovered a thyroid nodule. Referred to us she was euthyroid with an USS finding of a 5 mm calcified nodule with no vascularity in the right thyroid. She had a FNA i...

Background: PTEN hamartoma tumour syndrome (PHTS) is a rare autosomal dominant disorder characterised by macrocephaly and multiple hamartomas. It carries an increased risk of several cancers, including breast, thyroid and endometrium. PHTS is caused by inactivating mutations of PTEN (phosphate and tensin homologue deleted on chromosome 10), which encodes a tumour suppressor phosphatase. Published guidelines for surveillance are available for adult patients but not adv...

Background: Struma ovarii, defined as containing 50% or more thyroid tissue is rare and accounts for 1% of ovarian tumours. Presentation is non-specific, relating to mass effect. Although the tumour predominantly consists of thyroidal tissue, features of hyperthyroidism occur in <5% of cases. Majority are benign, histological features of thyroid cancer are found in about 5–10%. Seventy per cent of these are papillary thyroid cancer (PTC). We present a case of struma o...

Background: Hyperthyroidism affects 1.3% of the population. The antithyroid drugs (ATD), carbimazole and propylthiouracil, can induce agranulocytosis, a rare but potentially life threatening side-effect with a prevalence of 0.10–0.15%. We assessed the adequacy of our patient’s knowledge of this side-effect.Methods: Patients on ATD completed a questionnaire before attending clinic. The questionnaire consisted of nine questions detailing informat...

A 63-year-old woman with a history of bipolar disorder and hypothyroidism under section 3 of the Mental Health Act in a psychiatric centre was admitted with severe hypothermia, bradycardia, hypotension and decreased GCS. She was on procyclidine and haloperidol for bipolar disorder and on intravenous antibiotics for 2 days for recurrent cellulitis in her leg. She was on levothyroxine 50 μg daily but was non compliant with her medications.Thyroid func...

Background: Surgery has a significant role in the management of benign thyroid disease, necessitating pre-operative evaluation and appreciation of possible complications. These include hypoparathyroidism and hypothyroidism. We compared outcomes of our benign thyroid disease patients requiring surgery to national standards set by the British Thyroid Association.Method: Outcomes for patients operated between December 2010 and December 2012 with benign dise...

Introduction: Thyrotoxicosis is a common endocrine disorder; variable degree of hepatic dysfunction is often seen with thyrotoxicosis. Severe liver dysfunction associated with thyrotoxicosis occurs rarely. The prevalence of liver abnormality with thyrotoxicosis is reported to be ~ 15–30%. The mechanism of liver abnormality is not well understood; direct thyroid hormone mediated hepatocyte injury has been raised as a possible mechanism. We conducted a retrospective review ...

Myxoedema coma or severe decompensated hypothyroidism is rare but has high mortality; appropriate early recognition and treatment is essential. We present a case of severe hypothyroidism with multi organ failure. A 58-year-old lady with several months’ history of loss of appetite, tiredness and hair loss presented with progressive lethargy, sleepiness and abdominal distension for 1 week. On admission she was very drowsy, had a doughy dry skin and facial puffiness. Large a...

Objective: The MAB, alemtuzumab has been demonstrated to reduce the relapse and the risk of accumulation of sustained disability in multiple sclerosis when compared to β-interferon. The development of autoimmune diseases, including thyroid disease has been reported in the literature with a frequency of 15–25%.Methods: We reviewed the case notes of 39 patients with multiple sclerosis initiated on alemtuzumab in our hospital from 2006 to 2012 and...

Case report: A 41-year-old lady, previously diagnosed with Graves’ disease, had been treated with 12 months carbimazole in a standard block and replace regimen. The hyperthyroidism relapsed following treatment withdrawal so she was treated definitively with radio-iodine therapy, remaining well for 5 years, without hypothyroidism. The patient commenced the lighter life diet due to weight gain and subsequently presented with weight loss of a stone and atrial fibrillation (A...

Introduction: Myxoedema coma is a rare complication of hypothyroidism. Although malnutrition is considered rare in developed countries, research has indicated that there are more than three million people in the UK suffering from or at risk of malnutrition. We present a case of myxoedema coma co-existing with malnutrition.Case report: A 51-year-old Caucasian female presented with acute confusion, peripheral oedema and a bilateral lower limb rash. On exam...

Introduction: Early thyrotoxicosis is associated reduced bone density. The aim of this study is to determine any difference between bone mineral density (BMD) in those presenting with overt or subclinical thyrotoxicosis.Methods: Retrospective observational study of BMD in individuals presenting with thyrotoxicosis from 2008 to 2013. BMD was assessed by bone densiometry using T, Z, and total BMD within 1 year of first abnormal thyroid fu...

Thyroid hormones regulate adult bone turnover. Thyrotoxicosis results in high turnover osteoporosis whilst hypothyroidism leads to low bone turnover with increased bone mass and mineralisation. T3-target tissues express thyroid hormone receptor alpha (TRα), thyroid hormone receptor beta (TRβ)or both receptors. TRα1 mediates the actions of T3 in bone and in skeletal cells TRα1 mRNA expression is 12-fold higher than TRβ1. Accordingl...

Background: Thyroid function is affected by critical illness – termed as non-thyroidal illness – and usually presents with low serum TSH and FT3 levels but normal FT3 concentrations. Critically ill patients may also have impaired immune function that could contribute to increased susceptibility to acquired infections and mortality. Thyroid hormones influence neutrophil levels and function but the effect of non-thyroidal illness on neutrophil fun...

Background: Hyperthyroxinaemia with non-suppressed TSH, due to resistance to thyroid hormone (RTH) or TSH-secreting pituitary tumour (TSHoma), can be difficult to diagnose, particularly with coincident autoimmune thyroid disease (AITD).Methods: To determine presentation patterns of AITD coincident with RTH or TSHoma, we analysed our cohort of cases with dual diagnoses.Results: Nine patients with RTH had AITD. Six had Graves’ d...

Background and aims: The use of serum calcitonin to screen patients with nodular thyroid disease for medullary thyroid cancer (MTC) remains controversial due to conflicting data regarding its sensitivity, specificity and cost effectiveness. Currently, the use of calcitonin is recommended by the European consensus group but not the American Thyroid Association. We aimed to formally evaluate the utility of calcitonin as a screening tool for MTC in patients presenting to the thyr...

Approximately 25% of the reported cases of MTC are familial. Familial MTC can occur as part of MEN2-syndrome or as familial MTC alone (fMTC) defined as more than ten carriers in the kindred, or multiple carriers or affected members over the age of 50 with an adequate medical history excluding pheochromocytoma. The vast majority of MEN2 families (98%), as well as fMTC kindreds (88%) harbour a RET mutation. In MEN2A, mutations at codon-634 (exon-11) account for 85% of all mutati...

Often discovered incidentally, small foci (≤2 cm) of papillary thyroid carcinomas (PTC) are its most frequent presentation. Despite favourable prognosis, the extent of surgery and use of radioablation is still controversial.Objective: Prospective cohort study of all patients admitted between 2007 and 2011, for thyroid surgery in the Institute of Endocrinology, Bucharest, Romania, and had pT1a or pT1b PTC.Patients and methods:...

Introduction: Thyroid disorders are the second most common endocrine disorders after diabetes mellitus. These disorders are associated with cardiovascular complications which increase morbidity and mortality in affected patients. The kidney normally plays an important role in the metabolism, degradation, and excretion of several thyroid hormones. The study sets out determine renal function in patients with goiter.Methodology: The study design was cross s...

Background: It is recognised that there is ‘cross-talk’ between the thyroid and hypothalamo-pituitary–adrenal (HPA) axes. The few available studies suggest that cortisol levels may be low and cortisol metabolism altered in some patients with thyrotoxicosis.Aim: To compare HPA axis variables in the thyrotoxic state (TT) and euthyroid state (EU).Materials and methods: Short synacthen testing (250 μg tetracosactide...

Routine thyroid function testing (TFT) in hospitalised patients is not recommended; however, delayed management of thyroid dysfunction may have significant consequences. We quantified the rate of TFT in hospitalised patients and identified factors influencing the likelihood of finding significantly abnormal TSH (<0.01 or >10 mUI). TFTs were performed during 26 937/280 000 (9.6%) admissions between 2007 and 2011. 57.6% of those tested were female and mean age was 63.8 (...

Aim: The aim of our study was to assess the correlation between pre-operative fine needles aspiration based cytology with post-operative histology in patients with thyroid nodules.Methods: A retrospective analysis of patients who had thyroidectomy (hemi, subtotal, or total) was conducted and information on histology was obtained. Pre-operative FNA (done once or twice) was also obtained and compared with histology. Patients operated for Graves’ disea...