Search

Objective: To develop evidence‐based recommendations to guide the surgical management and postoperative follow‐up of adults with primary hyperparathyroidism. Methods: Representatives from relevant Australian and New Zealand Societies used a systematic approach for adaptation of guidelines (ADAPTE) to derive an evidence‐informed position statement addressing eight key questions. Results: Diagnostic imaging does not determine suitability for surgery but can guide the planning of surgery in suitable candidates. First‐line imaging includes ultrasound and either parathyroid 4DCT or scintigraphy, depending on local availability and expertise. Minimally invasive parathyroidectomy is appropriate in most patients with concordant imaging. Bilateral neck exploration should be considered in those with discordant/negative imaging findings, multi‐gland disease and genetic/familial risk factors. Parathyroid surgery, especially re‐operative surgery, has better outcomes in the hands of higher volume surgeons. Neuromonitoring is generally not required for initial surgery but should be considered for re‐operative surgery. Following parathyroidectomy, calcium and parathyroid hormone levels should be re‐checked in the first 24 h and repeated early if there are risk factors for hypocalcaemia. Eucalcaemia at 6 months is consistent with surgical cure; parathyroid hormone levels do not need to be re‐checked in the absence of other clinical indications. Longer‐term surveillance of skeletal health is recommended. Conclusions: This position statement provides up‐to‐date guidance on evidence‐based best practice surgical and postoperative management of adults with primary hyperparathyroidism. [ABSTRACT FROM AUTHOR]

Objective: To formulate clinical consensus recommendations on the presentation, assessment, and management of primary hyperparathyroidism (PHPT) in adults. Methods: Representatives from relevant Australian and New Zealand Societies used a systematic approach for adaptation of guidelines (ADAPTE) to derive an evidence‐informed position statement addressing nine key questions. Results: PHPT is a biochemical diagnosis. Serum calcium should be measured in patients with suggestive symptoms, reduced bone mineral density or minimal trauma fractures, and in those with renal stones. Other indications are detailed in the manuscript. In patients with hypercalcaemia, intact parathyroid hormone, 25‐hydroxy vitamin D, phosphate, and renal function should be measured. In established PHPT, assessment of bone mineral density, vertebral fractures, urinary tract calculi/nephrocalcinosis and quantification of urinary calcium excretion is warranted. Parathyroidectomy is the only definitive treatment and is warranted for all symptomatic patients and should be considered for asymptomatic patients without contraindications to surgery and with >10 years life expectancy. In patients who do not undergo surgery, we recommend annual evaluation for disease progression. Where the diagnosis is not clear or the risk‐benefit ratio is not obvious, multidisciplinary discussion and formulation of a consensus management plan is appropriate. Genetic testing for familial hyperparathyroidism is recommended in selected patients. Conclusions: These clinical consensus recommendations were developed to provide clinicians with contemporary guidance on the assessment and management of PHPT in adults. It is anticipated that improved health outcomes for individuals and the population will be achieved at a decreased cost to the community. [ABSTRACT FROM AUTHOR]

The recent genomic revolution, characterised by surges in the number of available genetic tests and known genetic associations, calls for improved genetic literacy amongst medical scientists and clinicians. This has been driven by next generation sequencing, a technology allowing multiple genes to be sequenced in parallel, thereby reducing the time and financial costs associated with genetic testing in both research and clinical settings. Endocrinology is an intuitive setting in which to consider the principles of genetic testing because endocrine disorders are due to defects in circumscribed pathways, providing clues to candidate genes. This article discusses genetic testing in contemporary endocrine practice with reference to examples of endocrine genetic disorders or multisystem genetic disorders with endocrine manifestations. Monogenic disorders are prioritised as these form the bulk of endocrine genetic disorders and the associated genetic testing is readily understandable, clinically available and practicechanging. Although it remains true that genetic testing should be embarked upon only if the result will alter management, the clinical utility of genetic testing is often underestimated and there are expanding indications for genetic testing across all areas of endocrinology. [ABSTRACT FROM AUTHOR]

The cover image is based on the Letter to the Editor Rebound vertebral and non‐vertebral fractures during denosumab interruption in a postmenopausal woman by Sunita De Sousa and David Jesudason, DOI: 10.1111/cen.13867. [ABSTRACT FROM AUTHOR]

Next generation sequencing has revolutionised genomic studies of cancer, having facilitated the development of precision oncology treatments based on a tumour's molecular profile. We aimed to develop a targeted gene sequencing panel for application to disparate cancer types with particular focus on tumours of the head and neck, plus test for utility in liquid biopsy. The final panel designed through Roche/Nimblegen combined 451 cancer-associated genes (2.01 Mb target region). 136 patient DNA samples were collected for performance and application testing. Panel sensitivity and precision were measured using well-characterised DNA controls (n = 47), and specificity by Sanger sequencing of the Aryl Hydrocarbon Receptor Interacting Protein (AIP) gene in 89 patients. Assessment of liquid biopsy application employed a pool of synthetic circulating tumour DNA (ctDNA). Library preparation and sequencing were conducted on Illumina-based platforms prior to analysis with our accredited (ISO15189) bioinformatics pipeline. We achieved a mean coverage of 395x, with sensitivity and specificity of >99% and precision of >97%. Liquid biopsy revealed detection to 1.25% variant allele frequency. Application to head and neck tumours/cancers resulted in detection of mutations aligned to published databases. In conclusion, we have developed an analytically-validated panel for application to cancers of disparate types with utility in liquid biopsy.

Background: Falsely elevated prolactin measurements risk overdiagnosis, and unnecessary imaging and treatment., Design: We conducted a clinical audit of 18 patients who presented with hyperprolactinaemia, followed by a laboratory audit of 40 split samples across a range of serum prolactin (5-5051 mIU/L). In each case (total n = 58), serum prolactin was measured on both Roche and Siemens platforms., Results: Serum prolactin as measured by Roche was higher than the corresponding Siemens value in every case, despite similar reference ranges. The mean discrepancy in serum prolactin by Roche vs. Siemens was +81% in the clinical audit and +50% in the laboratory audit. This led to unnecessary interventions in 7/18 patients (39%) in the clinical audit., Conclusions: Serum prolactin is overestimated on the Roche relative to the Siemens platform. Laboratories should review Roche reference intervals for serum prolactin, and clinicians should consider repeating serum prolactin on another platform if the serum prolactin is incongruent with the clinical scenario., Competing Interests: Nothing to declare.

Dopamine agonists are the first line of therapy for prolactinomas, with high rates of biochemical control and tumour shrinkage. Toxicity is considered to be low and manageable by switching of agents and dose reduction. Dopamine agonist-induced impulse control disorders are well described in the neurology setting, but further data are required regarding this toxicity in prolactinoma patients. We performed a multicenter retrospective cohort study of eight men with prolactinomas and associated central hypogonadism. The eight men had no prior history of psychiatric disease, but each developed disruptive hypersexuality whilst on dopamine agonist therapy at various doses. Cabergoline, bromocriptine and quinagolide were all implicated. Hypersexuality had manifold consequences, including relationship discord, financial loss, reduced work performance, and illicit activity. We hypothesise that this phenomenon is due to synergy between reward pathway stimulation by dopamine agonists, together with rapid restoration of the eugonadal state after prolonged hypogonadism. We refer here to this distinct drug toxicity as 'dopa-testotoxicosis'. Given the profound impact in these patients and their families, cessation of dopamine agonists should be considered in men who develop hypersexuality, and pituitary surgery may be required to facilitate this. Awareness of this distinct impulse control disorder should enable further research into the prevalence, natural history and management of dopa-testotoxicosis. The condition is likely under-reported due to the highly personal nature of the symptoms and we suggest a simple written questionnaire to screen for hypersexuality and other behavioural symptoms within the first six months of dopamine agonist treatment.