Testosterone deficiency in the adult males

Testosterone deficiency leads to multiple problems but can be difficult to diagnose. However, replacement therapy can be rewarding and a life changer for the patient.peer-reviewe

A case of accidental Ricin poisoning

A case report of accidental, mild ricin poisoning by ingestion of ten Castor beans by a 70 year old man. The clinical presentation is followed by a discussion about the toxicity of ricin, its use and misuse and the contrast between the toxicity of pure ricin and the ingestion of castor beans. Management of castor bean poisoning is also discussed.peer-reviewe

Dopa-responsive dystonia and hyperprolactinaemia : a novel association in two sisters

Dopa-Responsive Dystonia (DRD) is a rare hereditary condition of childhood-onset dystonia which responds dramatically to treatment with levodopa. It was first described in 1971 as a "hereditary progressive basal ganglia disease with marked diurnal fluctuation". We describe a novel association between DRD and hyperprolactinaemia occurring in two sisters at the onset of puberty.peer-reviewe

Charcot neuroarthropathy : pathogenesis, diagnosis and medical management

Charcot neuroarthropathy (CN) is a progressive degenerative arthropathy which rarely complicates diabetes mellitus. Most commonly, though not exclusively affecting the foot, it seems to be determined by the interaction of neuropathy, osteopaenia and proinflammatory cytokines on a calcified peripheral vasculature that maintains its ability to vasodilate despite widespread arteriosclerosis. Although often unrecalled, this arthropathy is probably triggered by trauma. Diagnosis is essentially clinical, given the paucity and non-specificity of radiological and biochemical findings at the acute stage. CN should be considered in the differential diagnosis of any diabetic patient presenting with a warm swollen lower extremity. Bone turnover markers, magnetic resonance imaging and radioisotope scanning may be useful diagnostic aids. Offloading is essential and improves limb survival. There is considerable interest, though limited data, on the benefits of bisphosphonates and calcitonin. The possible roles of ultrasound and radiotherapy need to be assessed in larger trials. Failure to institute corrective measures at an early stage results in a foot that is prone to deformity, ulceration, amputation and loss of function. It is hoped that a better understanding of the aetiopathogenesis at a cytokine level will allow the targeting of new effective agents.peer-reviewe

Remission during pregnancy of severe Chronic Hypertension due to 11-ß Hydroxylase Deficiency

When hypertension is a result of an underlying identifiable abnormality, the latter's early discovery can lead to a timely cure of the hypertension and the prevention of its complications. We present a case of high blood pressure lowered by pregnancy, suggestive of an endocrine cause. This was confirmed following a detailed history which revealed severe hypertension intractable to therapy, yet which remitted during pregnancy. A diagnosis of 11-beta hydroxylase deficiency was made consequent upon the finding of raised serum 11-desoxycorticosterone levels. The blood pressure was finally controlled with glucocorticoid replacement therapy and spironolactone.peer-reviewe

An unusual cause of shortness of breath and fever

A case of a 57 year old man who presented with shortness of breath and fever is discussed . The patient was suffering from multiple lung abscesses. As a right sided cardiac source of septic emboli was suspected, the patient underwent transthoracic echocardiography; this revealed a right atrial myxoma. The case, its complicated course and outcome are presented. This is followed by a discussion on infected atrial myxomas and the importance of early echocardiography in cases with a similar presentation.peer-reviewe

The first documented case of neurotoxicity in two patients following octopus flesh ingestion in the Mediterranean : a case study from the Maltese Islands (central Mediterranean)

Tetrodotoxin is a naturally occurring potent neurotoxin, widely distributed in marine animals, including a number of members of the Tetraodontidae fish family (e.g. Lagocephalus sceleratus, the silver-cheeked toadfish), a marine invasive species native of the Indo-Pacific region which is increasingly being reported from the Mediterranean. Various human fatalities have been documented globally as a result of intoxication through tetrodotoxin, but these have rarely been associated with the ingestion of octopus flesh. We hereby report the case of two patients from the Maltese Islands (central Mediterranean) who presented symptoms consistent with neurotoxicity, following the consumption of the well-cooked flesh of the common octopus. Both patients required supportive care, until complete recovery within a few days, with one of whom requiring intensive care. The reported cases of neuromuscular disturbances following the consumption of octopus flesh is highly suggestive of neurotoxicity due to tetrodotoxin poisoning, the first such cases documented for the Mediterranean waters, although alternative scenarios are also postulated in this study due to the lack of definite evidence for the TTX poisoning, including the release of histamine by psychrotrophic bacteria or the accumulation of HAB-related toxins. The postulated TTX intoxication mechanism involves predation by Octopus vulgaris, the common octopus or ‘scuttle’, on a toxic marine species harbouring tetrodotoxin.peer-reviewe

Presentation and management of diabetic ketoacidosis in adults in Malta

Aim: The aim of this audit was to assess adherence to local guideline in the management of Diabetic Ketoacidosis (DKA). Method: Patients admitted with DKA between April 2013 and March 2015 were identified and data was retrospectively collected from patients’ confidential files and Isoft®. Data collected included initial parameters recorded and biochemical investigations taken (initial and subsequent assessment of pH, HCO3-, blood glucose, potassium levels and urinary ketones), insulin regime started and intravenous fluid administered. Results: During the established time period 40 cases of DKA were identified in 18 patients. Median age was 33 years with a female preponderance of 60%. Six patients had newly diagnosed diabetes mellitus while 8 patients had more than one admission of DKA. All cases had capillary blood glucose monitoring (BGM) and/or venous random blood (plasma) glucose (RBG) checked and pH and HCO3- recorded on admission. 0.9% sodium chloride was the intravenous fluid started in all cases (as recommended by the guideline) and a median of 6.75L was prescribed during the first 24 hours. The median time spent on intravenous insulin infusion was 42.7 hours while the median time to pH >7.30, HCO3- >15mmol/L and negligible urinary ketones were 6.88, 12.83 and 34.5 hours respectively. Subcutaneous insulin was started at a median time of 48.21 hours from initiation of DKA protocol. Conclusion: This audit showed good adherence to local guideline. The great discrepancy between the time to pH >7.3 and the time to negligible urinary ketones highlights the need to introduce tools to measure systemic ketone production in the management of DKA with an update in the current local clinical practice guideline.peer-reviewe

Society for Endocrinology Endocrine Update 2019

The patient is a 45 year old gentleman known case of HIV seropositivity (well-controlled, undetectable viral load) and polycystic kidney disease, who was referred to our Endocrine clinic by the Infectious disease specialists in view of a 4 year history of erectile dysfunction (ED – preceded diagnosis of HIV) and a low testosterone level. During the first consultation, the patient reported occasional lethargy and long term nausea which was attributed to his retroviral treatment. He denied any vomiting or headaches. The only neurology of note was right abducens nerve palsy, stable since diagnosis 10 years prior. (Magnetic resonance (MR) imaging of the head at time of initial presentation had been reported as showing no positive findings.) Clinical examination was otherwise unremarkable. A full pituitary profile taken after the initial endocrine consultation was suggestive of hypopituitarism (low serum total testosterone, cortisol and free thyroxine concentrations. In light of the biochemical investigations, an urgent MR pituitary was organised which showed an extensively infiltrating right parasellar lesion, which was most in keeping with a parasellar meningioma. A retrospective evaluation of his past imaging studies demonstrated that the lesion had already been present in the first MR study. Formal visual perimetry was overall normal. A standard short synacthen test (SST) performed after the results of the initial pituitary profile showed adequate cortisol response. He was subsequently started on testosterone and levothyroxine replacement therapy which brought about an improvement in his hypopituitary symptoms and biochemistry. At this point, definitive treatment of this gentleman’s meningioma is still being carefully evaluated within a multi-disciplinary team. Given the size and the location of the meningioma and the possible inherent complications of surgery, radiotherapy appears to be the favoured treatment option. This case report highlights the diagnostic pathway in the investigation of hypopituitarism whilst bringing to the fore mimickers of pituitary tumours.peer-reviewe

Thyroid nodules, FNA cytology and thyroid cancer in Malta

INTRODUCTION: Thyroid nodules are very common and elucidating the nature of these thyroid nodules is an important task.METHODOLOGY: Patients who had an ultrasound guided fine needle aspiration (FNA) of a thyroid nodule between January 2008 and June 2012 were retrospectively audited and their ultrasonographic and biochemical characteristics where analysed. For those patients who were operated nodule characteristics were correlated with thyroid histology.RESULTS: 397 thyroid aspirates were identified. Using The Betsheda System for Reporting Thyroid Cytopathology (TBSRTC) 59.5% were classified as category II (benign), 15.4% category IV (follicular) 4.8% category V (suspicious for malignancy) and 8.4% category VI (malignant). Statistical analysis of operated patients (n=97) yielded a positive predictive value for malignancy (for those who were classified according to TBSRTC categories V and VI) of 89.5%, a negative predictive value of 86.4%, sensitivity of 81.0% and specificity of 92.7%. 42 patients who were operated had thyroid malignancy, of whom 41 had a papillary carcinoma and 1 patient had a medullary thyroid carcinoma. The mean age at presentation was 48.0 years (S.D.±12.6 years), the mean largest diameter of the papillary carcinomas was 13.8 mm (S.D.±8.6 mm) and 48.8% had lymph node involvement. 58.5% of patients with malignant histology had more than 1 focus of malignancy in the thyroid. The mean size of thyroid nodule on ultrasound of these patients was 17.5 mm (S.D.±9.4 mm), 53.7% had a hypoechoic nodule and 48.8% had microcalcifications. These findings differed from those who had a follicular adenoma on histology, where 13.0% had a hypoechoic nodule on ultrasound and 16.1% had microcalcifications.CONCLUSIONS: These findings further establish that FNA of thyroid nodules is a very important and helpful tool in the management of thyroid nodules. Important characteristics of thyroid cancer are shown including the high rate of multifocality seen in our patient cohort.peer-reviewe