Alternative splicing generates isoform diversity in .

Although the gene has a long-standing association with cancer, its mechanisms of action remain incompletely understood, acting both as a tumour suppressor in neuroendocrine tumours and as an oncogene in leukaemia. The best-characterised isoform of the encoded protein, MENIN, is the 610-amino acid MENIN isoform 2. We hypothesise that some of the complexity of biology can be attributed to a currently unappreciated contribution of different MENIN isoforms.

Systematic Review-Type B Insulin Resistance With Isolated Hypoglycemia and Suppressed Insulin.

Objective: Type B insulin resistance syndrome is a rare autoimmune disorder affecting glucose homeostasis, characterized by serum autoantibodies to the insulin receptor (AIRAbs). Patients typically present with severe insulin resistance. A mixed hyper- and hypoglycemia phenotype may also occur, as may isolated hypoglycemia.

Systematic Review of Therapeutic Agents and Long-Term Outcomes of Familial Hyperaldosteronism Type 1.

Background: Familial hyperaldosteronism type 1 (FH1), previously known as glucocorticoid-remediable aldosteronism, was the first identified monogenic cause of primary aldosteronism. Patients classically develop hypertension at a young age and are at risk of premature vascular complications. A systematic review of FH1 was performed to determine long-term treatment outcomes.

Ethnic differences in patients undergoing thyroidectomy for non-toxic multinodular goitre.

Background: Māori have an increased incidence of thyrotoxicosis when compvared to non-Māori, however there are limited data on benign non-toxic nodular thyroid disease.

Aims: The aims of this study were to determine the rates of non-toxic multinodular goitre (NTMNG) surgery for Māori and non-Māori and to determine if there were differences in thyroid size between Māori and non-Māori undergoing total thyroidectomy for NTMNG.

Methods: Single centre study of patients undergoing thyroidectomy for NTMNG from 1 December 2006 to 30 November 2016.

Systematic Review: Incidence of Pheochromocytoma and Paraganglioma Over 70 Years.

Context: Pheochromocytomas and paragangliomas (PPGLs) are known to be rare. However, there is scant literature reporting their epidemiology, particularly whether the diagnosis of PPGL has increased with advances in medical imaging and biochemical and genetic testing.

Objective: The primary objective of this systematic review was to determine the annual incidence of PPGLs and change over time.

Autosomal Dominant Hypocalcemia Type 1 (ADH1) Associated With Myoclonus and Intracerebral Calcifications.

Autosomal dominant hypocalcemia type 1 (ADH1) is a disorder of extracellular calcium homeostasis caused by germline gain-of-function mutations of the calcium-sensing receptor (CaSR). More than 35% of ADH1 patients have intracerebral calcifications predominantly affecting the basal ganglia. The clinical consequences of such calcifications remain to be fully characterized, although the majority of patients with these calcifications are considered to be asymptomatic.

Pituitary function following peptide receptor radionuclide therapy for neuroendocrine tumours.

Peptide receptor radionuclide therapy (PRRT) is an increasingly used treatment for unresectable neuroendocrine tumours (NETs) that express somatostatin receptors. Normal pituitary tissue expresses somatostatin receptors so patients receiving PRRT may be at risk of developing hypopituitarism. The aim was to assess the prevalence of clinically significant hypopituitarism a minimum of 2 years following radioisotope therapy for metastatic NET.

Thyrotoxicosis in an Indigenous New Zealand Population - a Prospective Observational Study.

Background: Reported international incidence rates of thyrotoxicosis vary markedly, ranging from 6 to 93 cases per 100 000 per annum. Along with population demographics, exposures, and study design factors, ethnicity is increasingly being recognized as a potential factor influencing incidence. This study aimed to document the epidemiology and clinical presentation of thyrotoxicosis for Māori, the indigenous population in New Zealand.

Inequitable Long-Term Outcomes for an Indigenous Population After Definitive Treatment of Patients With Graves Disease.

Background: Māori, the indigenous people of Aotearoa/New Zealand, have an increased incidence of Graves disease and often require more than one radioiodine (RAI) dose, raising the question as to whether surgery may be preferable in this population. However, there is a lack of outcome data after definitive therapy in an indigenous population.

Aim: To assess ethnic differences in thyroid status after definitive therapy for Graves disease.

Regulation of murine skeletal muscle growth by STAT5B is age- and sex-specific.

Background: Sexually dimorphic growth has been attributed to the growth hormone (GH)/insulin-like growth factor 1 (IGF1) axis, particularly GH-induced activation of the intracellular signal transducer and activator of transcription 5B (STAT5B), because deletion of STAT5B reduces body mass and the mass of skeletal muscles in male mice to that in female mice. However, it remains unclear why these effects are sex- and species-specific, because the loss of STAT5B retards growth in girls, but not in male mice. Our objectives were to determine whether sexually dimorphic growth of skeletal muscle persisted in STAT5B mice and investigate the mechanisms by which STAT5B regulates sexually dimorphic growth.

GH replacement titrated to serum IGF-1 does not reduce concentrations of myostatin in blood or skeletal muscle.

Objective: Traditional weight-based regimens of GH replacement are more effective at reversing the loss of skeletal muscle in GH-deficient adults than currently recommended regimens, where the dose of GH is increased to restore serum concentrations of IGF-1. While weight-based regimens increase concentrations of IGF-1 and decrease concentrations of myostatin, it is not known whether the reduced effectiveness of individually titrated GH regimens is due to ongoing hypersecretion of myostatin. Consequently, the aims of this study were to determine whether concentrations of myostatin in blood and skeletal muscle are increased in GH-deficient adults, and whether these concentrations are decreased by GH replacement regimens titrated to restore serum IGF-1.

Treatment choice, satisfaction and quality of life in patients with Graves' disease.

Background: Thyrotoxicosis, most often caused by Graves' disease (GD), when treated inadequately may result in premature mortality. There is little consensus as to which of the 3 treatment options available - antithyroid drugs (ATD), radioactive iodine (RAI) and surgery, is better.

Aims: (i) To assess factors involved in treatment choice and treatment satisfaction in patients treated for Graves' disease; (ii) To assess quality of life (QoL) following treatment of Graves' disease.

Increased Admissions Due to Cardiac Complications of Thyrotoxicosis in Māori.

Background: As thyrotoxicosis is a risk factor for atrial fibrillation, current guidelines recommend measuring a thyroid-stimulating hormone level in patients with this disorder. Hyperthyroidism may also be associated with other heart diseases including cardiac ischaemia and cardiac failure. Currently, the prevalence of thyrotoxicosis in cardiac admissions in the absence of a rhythm disorder is unknown.

Rates of unsuspected thyroid cancer in multinodular thyroid disease.

Background: Previously the risk of concomitant thyroid cancer in multinodular goitre (MNG) has been reported as approximately 4%. Cancer risk in toxic MNG was often considered lower than for non-toxic MNG, due to a possible protective effect of TSH suppression. However, recent American data suggest an approximately 18% risk of occult malignancy in both toxic and non-toxic MNG.

Parafibromin-deficient (HPT-JT Type, CDC73 Mutated) Parathyroid Tumors Demonstrate Distinctive Morphologic Features.

The gene CDC73 (previously known as HRPT2) encodes the protein parafibromin. Biallelic mutation of CDC73 is strongly associated with malignancy in parathyroid tumors. Heterozygous germline mutations cause hyperparathyroidism jaw tumor syndrome,which is associated with a high life-time risk of parathyroid carcinoma.

Absence of Myostatin Improves Cardiac Function Following Myocardial Infarction.

Background: Myostatin inhibits the development of skeletal muscle and regulates the proliferation of skeletal muscle fibroblasts. However, the role of myostatin in regulating cardiac muscle or myofibroblasts, specifically in acute myocardial infarction (MI), is less clear. This study sought to determine whether absence of myostatin altered left ventricular function post-MI.

A Duodenal SDH-Deficient Gastrointestinal Stromal Tumor in a Patient With a Germline SDHB Mutation.

Context: Gastrointestinal stromal tumors (GISTs) are mesenchymal tumors of the gastrointestinal tract arising from the interstitial cells of Cajal. Succinate dehydrogenase (SDH)-deficient GISTs are a unique class of GIST defined by loss of immunohistochemical expression of SDHB, indicating dysfunction of the mitochondrial complex 2; lack of driver mutations in KIT and PDGFRA; and distinctive morphologic features and natural history. To date, all reported SDH-deficient GISTs have arisen in the stomach.

Symptoms and signs of acromegaly: an ongoing need to raise awareness among healthcare practitioners.

INTRODUCTION Chronic excess growth hormone production results in acromegaly, a condition associated with widespread physical changes, including soft tissue and bony overgrowth. When untreated, acromegaly reduces life expectancy. Patients usually remain undiagnosed for years after the onset of symptoms, by which stage irreversible physical changes have often occurred.

Response to Radioiodine Therapy for Thyrotoxicosis: Disparate Outcomes for an Indigenous Population.

Despite 70 years of experience treating thyrotoxic patients with radioiodine not all patients are successfully treated by a single dose. Multiple factors predicting radioiodine efficacy have been reported. The aim of this study was to assess whether ethnicity was associated with radioiodine response.

Factitious Graves' Disease Due to Biotin Immunoassay Interference-A Case and Review of the Literature.

Context: Biotin (vitamin B7) is an essential co-factor for four carboxylases involved in fatty acid metabolism, leucine degradation, and gluconeogenesis. The recommended daily intake (RDI) of biotin is approximately 30 μg per day. Low-moderate dose biotin is a common component of multivitamin preparations, and high-dose biotin (10 000 times RDI) has been reported to improve clinical outcomes and quality of life in patients with progressive multiple sclerosis.

The management of Graves' disease in New Zealand 2014.

Background: Treatment options for Graves' disease (GD), namely anti-thyroid drugs (ATD), surgery or radioiodine (RAI), have not changed over the past two decades. There is no 'gold-standard' treatment for GD.

Aims: To assess whether the management of GD in New Zealand has changed since the previous 1991 New Zealand survey and compare current management with that of contemporary international studies.

Specialist services for management of individuals identifying as transgender in New Zealand.

Aims: In light of the rising number of referrals to secondary level services of people who identify as transgender, and the Human Rights Commission concerns regarding the care of this group in New Zealand, we felt it was timely to determine the availability of services for people who identify as transgender and whether there are variations in management protocols.

Methods: We contacted 100 physicians involved in providing a secondary level service to care for people who identify as transgender, and asked them to complete a questionnaire about the services available in their region. This questionnaire consisted of two parts, a 'general questionnaire', which focussed on the consultants' understanding of services available locally, and a 'clinical questionnaire', which presented hypothetical clinical case histories and asked respondents to indicate how they would manage the case.

Early Onset Primary Hyperparathyroidism Associated with a Novel Germline Mutation in CDKN1B.

Individuals presenting with primary hyperparathyroidism (PHPT) at a young age commonly have an underlying germline gene mutation in one of the following genes: MEN1, CASR, or CDC73. A small number of families with primary hyperparathyroidism have been identified with germline mutations in CDKN1B and those patients with primary hyperparathyroidism have almost exclusively been women who present in middle age suggesting that the age of onset of PHPT in MEN4 may be later than that of MEN1. We present a case of apparently sporadic PHPT presenting in adolescence with single gland disease associated with a novel CDKN1B germline mutation (heterozygote for a missense mutation in exon 1 of the CDKN1B gene (c.

Paraganglioma in Pregnancy: A Case Series and Review of the Literature.

Context: Pregnancies complicated by a pheochromocytoma or paraganglioma are very rare, being estimated to occur in 0.007% of all pregnancies. Both the well-being of the mother and fetus need to be considered, and management can be challenging.