Clinical Endocrinology最新文献

{"title":"Diagnostic accuracy of morning serum cortisol concentration in confirming recovery of the hypothalamic-pituitary-adrenal axis in patients on chronic glucocorticoid therapy","authors":"Ella Sharma,&nbsp;Joe Berry,&nbsp;Bridget Griffiths,&nbsp;Alice Lorenzi,&nbsp;Ben Thompson,&nbsp;Chris Boot,&nbsp;Yaasir Mamoojee","doi":"10.1111/cen.15077","DOIUrl":"10.1111/cen.15077","url":null,"abstract":"<p>Chronic glucocorticoid therapy (CGT) is widely used in a variety of medical specialities as an anti-inflammatory and immunosuppressive agent. The prevalence of oral CGT use can be as high as 3% in some populations, and as such CGT above physiological dosing and for a prolonged period of time invariably carries an increased risk of glucocorticoid-induced adrenal insufficiency (AI). In clinical practice, the oral dose of CGT is gradually reduced according to disease activity and to prevent flare, as well as allowing for recovery of the hypothalamic–pituitary–adrenal (HPA) axis.<span>¹</span> Many centres undertake inappropriate 250 µg Synacthen tests (SST) in patients who may be on suppressive doses of prednisolone, especially those suffering from hypo-adrenal symptoms on tapering steroid doses (arthralgia/myalgia, lethargy, weakness, sleep disturbance and mood changes).</p><p>We previously reported that an early morning serum cortisol concentration of &gt;237 nmol/L (&gt;8.6 μg/dL) on the Cortisol-II assay (by Roche Diagnostics) has 100% specificity at confirming an intact HPA axis in a large cohort of patients at risk of secondary AI from pituitary disease.<span>²</span> Given that the pathophysiology of AI in CGT and pituitary disease is comparable and secondary to low/suppressed secretion of adrenocorticotropic hormone from the pituitary gland, we postulated that the same morning serum cortisol concentration cutoff can be applied as a screening test for patients on CGT. To validate this cutoff, we retrospectively reviewed SST results performed in patients on tapering doses of CGT, from our rheumatology department, over a 12-month period. This study was registered as a service evaluation within our institution.</p><p>All SSTs were performed in the morning (7 AM to 12 AM) after withholding CGT for 48 h. Peripheral blood was sampled for cortisol at baseline, 30 and 60 min. AI was defined as a peak serum cortisol concentration &lt;420 nmol/L (&lt;15.2 μg/dL) (Cortisol-II assay Roche Diagnostics), based on previously validated cutoff values from healthy control population.<span>³</span> Data is expressed as mean (±SD) and percentages. Mann–Whitney test was used for statistical analyses between continuous variables.</p><p>Sixty SSTs were performed on 58 patients. The mean age of our cohort was 65( ± 15) years with a female predominance of 2:1. Mean duration of CGT was 63( ± 42) months, prescribed primarily for giant cell arteritis/polymyalgia rheumatica (48%) and inflammatory arthritis (18%). All patients were on prednisolone as CGT and the mean daily dose was 3.4 (±2.5) mg at the time of SST. 15% of our cohort had a failed SST. With our previously reported basal serum cortisol concentration of &gt;237 nmol/L (&gt;8.6 μg/dL) used to confirm an intact HPA axis, no patient with AI would have been missed, but 37 out of 51 (73%) unnecessary SSTs in euadrenal patients would have been avoided. Receiver operating curve an","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cen.15077","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141064862","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical outcomes from surgical management of primary aldosteronism based on inconclusive adrenal vein sampling","authors":"Rachel Norman,&nbsp;Caitlin Carr-Knox,&nbsp;Chris Boot,&nbsp;Ralph Jackson,&nbsp;Muhammad Ramzan,&nbsp;Peter Truran,&nbsp;Jason Ramsingh,&nbsp;Richard Bliss,&nbsp;Andy James,&nbsp;Yaasir Mamoojee,&nbsp;RVI Endocrine Group","doi":"10.1111/cen.15076","DOIUrl":"10.1111/cen.15076","url":null,"abstract":"","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141064861","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Liothyronine (LT3) prescribing in England: Are cost constraints inhibiting guideline implementation?","authors":"Heald AH,&nbsp;Premawardhana LD,&nbsp;Taylor PN,&nbsp;Dasha Depesina,&nbsp;Nadia Chaudhury,&nbsp;Okosieme OE,&nbsp;Stedman M,&nbsp;Dayan CM","doi":"10.1111/cen.15061","DOIUrl":"10.1111/cen.15061","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Primary hypothyroidism affects about 3% of the general population in Europe. In most cases people with hypothyroidism are treated with levothyroxine. In the context of the 2023 British Thyroid Association guidance and the 2020 Competitions and Marketing Authority (CMA) ruling, we examined prescribing data for levothyroxine, Natural desiccated thyroid (NDT) and liothyronine by dose, regarding changes over the years 2016–2022.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Design</h3>\u0000 \u0000 <p>Monthly primary care prescribing data for each British National Formulary code were analysed for levothyroxine, liothyronine and NDT.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Patients and Measurements</h3>\u0000 \u0000 <p>The rolling 12-month total/average of cost or prescribing volume was used to identify the moment of change. Results included number of prescriptions, the actual costs, and the cost/prescription/mcg of drug.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p><i>Liothyronine</i>: In 2016 94% of the total 74,500 prescriptions were of the 20 mcg dose. In 2020 the percentage prescribed in the 5 mcg and 10 mcg doses started to increase so that by 2022 each reached nearly 27% of total liothyronine prescribing. The average cost/prescription in 2016 of 20 mcg was £404/prescription and this fell by 80% to £101 in 2022; while the 10 mcg cost of £348/prescription fell by only 35% to £255 and the 5 mcg cost of £355/prescription fell by 38% to £242/prescription. The total prescriptions of liothyronine in 2016 were 74,605, falling by 30% up to 2019 when they started to grow again - most recently at 60,990−15% lower than the 2016 figure, with the result that total costs fell by 70% to £9 m/year.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Liothyronine costs fell after the CMA ruling but remain orders of magnitude higher than for levothyroxine. The remaining 0.2% of patients with liothyronine treated hypothyroidism are still absorbing 16% of medication costs. The lower liothyronine 5cmg and 10 mcg doses as recommended by BTA are 240% the costs of the 20 mcg dose. Thus, following latest BTA guidance which recommends the lower liothyronine doses still incurs substantial additional costs vs the prescribing liothyronine in the no longer recommended treatment regime. High drug price continues to impact clinical decisions, potentially limiting liothyronine therapy availability to a considerable number of patients who could benefit from this treatment.</p>\u0000 <","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cen.15061","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140944405","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pituitary-related immune adverse events induced by programmed death Protein-1 inhibitors differ clinically from hypophysitis","authors":"Lijuan Yang,&nbsp;Yao Zhang,&nbsp;Xiaoyu Chen,&nbsp;Kuanzhi Liu,&nbsp;Yaru Zhou,&nbsp;Shuchang Wang","doi":"10.1111/cen.15075","DOIUrl":"10.1111/cen.15075","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>We aimed to elucidate the clinical features of pituitary immune-related adverse events (irAEs) induced by PD-1 inhibitors in a Chinese cohort and the previous literatures.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Patients and Design and Measurements</h3>\u0000 \u0000 <p>We retrospectively analysed the clinical manifestations, laboratory examination findings, imaging features and treatments of 14 patients with pituitary irAEs caused by PD-1 inhibitors in our cohort. In addition, we searched PubMed for all English articles on pituitary irAEs induced by PD-1 inhibitors published from 1950 to 2023. A total of 47 articles were included, and the clinical characteristics of 94 patients with pituitary irAEs induced by PD-1 inhibitors in these literatures were compared to the characteristics of our cohort.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Among the 14 patients in our cohort with pituitary irAEs induced by PD-1 inhibitors, 12 patients (85.71%, 12/14) exhibited isolated ACTH deficiency (IAD), 100.0% (14/14) of the central adrenocortical insufficiency, and 2 patients showed more than one hypothalamic-pituitary axis injury (14.29%, 2/14). Pituitary magnetic resonance imaging in all the 14 patients showed no pituitary enlargement. In previous studies we reviewed, 82.98% of the total (78/94) presented with pituitary irAEs as IAD, 100.0% (94/94) of the central adrenocortical insufficiency, and 78.33% of the patients showed no abnormality of the pituitary gland (47/60). The pituitary irAEs caused by PD-1 inhibitors did not involve typical manifestations of hypophysitis, such as pituitary enlargement, headache, visual field defects, and multiple pituitary function impairments in our cohort and the previous literatures.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>In our study, pituitary immune-related adverse reactions induced by PD-1 inhibitors mainly manifested isolated ACTH deficiency rather than hypophysitis.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140955730","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cutaneous findings in patients with acromegaly and its relationship with concomitant endocrinopathies","authors":"İsa An,&nbsp;Filiz Cebeci Kahraman,&nbsp;Aslı Bilgiç,&nbsp;Aysun Şikar Aktürk,&nbsp;Hülya Albayrak,&nbsp;Demet Kartal,&nbsp;Salih Levent Çınar,&nbsp;Sezgi Sarıkaya Solak,&nbsp;Meltem Uslu,&nbsp;Hatice Erdi Şanlı,&nbsp;İncilay Kalay Yıldızhan,&nbsp;Mustafa Turhan Şahin,&nbsp;İlkin Zindanci,&nbsp;Sevil Savaş,&nbsp;Erhan Ayhan,&nbsp;Murat Cinel,&nbsp;Elif Nazlı Serin Ataş,&nbsp;Mustafa Aydemir,&nbsp;Alev Selek,&nbsp;Gülşah Elbüken,&nbsp;Sayid Shafi Zuhur,&nbsp;Züleyha Karaca,&nbsp;Buket Yılmaz Bülbül,&nbsp;Mustafa Ünübol,&nbsp;Özgür Demir,&nbsp;Zeliha Hekimsoy,&nbsp;Mazhar Tuna,&nbsp;Miray Asilsoy,&nbsp;Sedat Çetin","doi":"10.1111/cen.15071","DOIUrl":"10.1111/cen.15071","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>Skin changes in acromegaly are often the first sign of the disease. The aim of this study was to describe the cutaneous findings in patients with acromegaly. In addition, a secondary aim was to investigate the possible association of these findings with remission status and concomitant endocrinopathies.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Design, Patients, and Measurements</h3>\u0000 \u0000 <p>In this prospective multicenter study, 278 patients over the age of 18 years with acromegaly who were followed up in 14 different tertiary healthcare institutions were included. These patients, who were followed up by the Endocrinology Department, were then referred to a dermatologist for dermatological examination. The frequency of skin lesions was investigated by detailed dermatologic examination. Dermatological diagnosis is reached by clinical, dermatological and/or dermoscopic examination, and rarely skin punch biopsy examinations in suspicious cases. The possible association of the skin findings between remitted and nonremitted patients and with concomitant endocrinopathies were evaluated.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The most common skin findings in patients with acromegaly in our study were skin tags (52.5%), cherry angiomas (47.4%), seborrhoea (37%), varicose veins (33%), acneiform lesions (28.8%), hyperhidrosis (26.9%) and hypertrichosis (18.3%). Hypertrichosis was significantly more prevalent in patients nonremitted (<i>p</i>: .001), while xerosis cutis was significantly more prevalent in patients remitted (<i>p</i>: .001). The frequency of diabetes mellitus and hypothyroidism was significantly higher in patients with varicose veins and seborrhoeic keratosis than those without. Additionally, the coexistence of hypothyroidism, hyperthyroidism and galactorrhea was significantly higher in patients with Cherry angioma than in those without Cherry angioma (<i>p</i>-values: .024, .034 and .027, respectively). The frequency of hypogonadism in those with xerosis cutis was significantly higher than in those without (<i>p</i>: .035).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Cutaneous androgenization findings such as skin tag, seborrhoea, acne and acanthosis nigricans are common in patients with acromegaly. Clinicians should be aware that skin findings associated with insulin resistance may develop in these patients. It can be said that the remission state in acromegaly has no curative effect on cutaneous findings. Only patients in remission were less likely to have hypertrichosis. This may allow earlier review of the follow-up and treatment of acromegaly patients presenting with complaints of hy","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140847437","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Liothyronine (LT3) prescribing in England: Are cost constraints inhibiting guideline implementation?","authors":"Heald Ah, Premawardhana Ld, Taylor Pn, Dasha Depesina, Nadia Chaudhury, Okosieme Oe, Stedman M, Dayan Cm","doi":"10.1530/endoabs.99.ep361","DOIUrl":"https://doi.org/10.1530/endoabs.99.ep361","url":null,"abstract":"BACKGROUND\u0000Primary hypothyroidism affects about 3% of the general population in Europe. In most cases people with hypothyroidism are treated with levothyroxine. In the context of the 2023 British Thyroid Association guidance and the 2020 Competitions and Marketing Authority (CMA) ruling, we examined prescribing data for levothyroxine, Natural desiccated thyroid (NDT) and liothyronine by dose, regarding changes over the years 2016-2022.\u0000\u0000\u0000DESIGN\u0000Monthly primary care prescribing data for each British National Formulary code were analysed for levothyroxine, liothyronine and NDT.\u0000\u0000\u0000PATIENTS AND MEASUREMENTS\u0000The rolling 12-month total/average of cost or prescribing volume was used to identify the moment of change. Results included number of prescriptions, the actual costs, and the cost/prescription/mcg of drug.\u0000\u0000\u0000RESULTS\u0000Liothyronine: In 2016 94% of the total 74,500 prescriptions were of the 20 mcg dose. In 2020 the percentage prescribed in the 5 mcg and 10 mcg doses started to increase so that by 2022 each reached nearly 27% of total liothyronine prescribing. The average cost/prescription in 2016 of 20 mcg was £404/prescription and this fell by 80% to £101 in 2022; while the 10 mcg cost of £348/prescription fell by only 35% to £255 and the 5 mcg cost of £355/prescription fell by 38% to £242/prescription. The total prescriptions of liothyronine in 2016 were 74,605, falling by 30% up to 2019 when they started to grow again - most recently at 60,990-15% lower than the 2016 figure, with the result that total costs fell by 70% to £9 m/year.\u0000\u0000\u0000CONCLUSIONS\u0000Liothyronine costs fell after the CMA ruling but remain orders of magnitude higher than for levothyroxine. The remaining 0.2% of patients with liothyronine treated hypothyroidism are still absorbing 16% of medication costs. The lower liothyronine 5cmg and 10 mcg doses as recommended by BTA are 240% the costs of the 20 mcg dose. Thus, following latest BTA guidance which recommends the lower liothyronine doses still incurs substantial additional costs vs the prescribing liothyronine in the no longer recommended treatment regime. High drug price continues to impact clinical decisions, potentially limiting liothyronine therapy availability to a considerable number of patients who could benefit from this treatment.","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141005888","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnostic challenges in patients with reninomas and extrarenal renin-producing tumours","authors":"Botond Fabian,&nbsp;Oskar Ragnarsson,&nbsp;Aleksandar Prazic,&nbsp;Mikael Rydén,&nbsp;Cristina Volpe,&nbsp;Ola Lindgren","doi":"10.1111/cen.15069","DOIUrl":"10.1111/cen.15069","url":null,"abstract":"<p>Renin-secreting tumours are rare causes of secondary hypertension and hypokalaemia. They are usually surgically curable, hence proper diagnostic work-up and tumour localisation is essential. In this paper, we present three Swedish patients recently diagnosed with renin secreting tumours, two with reninomas and one with an extrarenal renin-producing tumour, to illustrate diagnostic challenges. We also discuss the biochemical work-up, the pros and cons of different imaging techniques (computer tomography [CT], magnetic resonance imaging and [18F]fluorodeoxyglucose-positron emission tomography-CT), as well as how renal vein sampling (RVC) may contribute to localisation of the tumour.</p>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cen.15069","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140828257","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical management and outcome of head and neck paragangliomas (HNPGLs): A single centre retrospective study","authors":"Milad Darrat,&nbsp;Louis Lau,&nbsp;Colin Leonard,&nbsp;Stephen Cooke,&nbsp;Muhammad A. Shahzad,&nbsp;Claire McHenry,&nbsp;David R. McCance,&nbsp;Steven J. Hunter,&nbsp;Karen Mullan,&nbsp;John R. Lindsay,&nbsp;Una Graham,&nbsp;Neil Bailie,&nbsp;Susie Hampton,&nbsp;Simon Rajendran,&nbsp;Fionnuala Houghton,&nbsp;David Conkey,&nbsp;Patrick J. Morrison,&nbsp;Philip C. Johnston","doi":"10.1111/cen.15070","DOIUrl":"10.1111/cen.15070","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Context</h3>\u0000 \u0000 <p>Head and neck paragangliomas (HNPGLs) are rare, usually benign, slow-growing tumours arising from neural crest-derived tissue. Definitive management pathways for HNPGLs have yet to be clearly defined.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To review our experience of the clinical features and management of these tumours and to analyse outcomes of different treatment modalities.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Demographic and clinical data were obtained from The Northern Ireland Electronic Care Record (NIECR) as well from a prospectively maintained HNPGL database between January 2011 through December 2023.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>There were 87 patients; 50 females: 37 males with a mean age of 52.3 ± 14.2 years old (range 17–91 years old). 58.6% (<i>n</i> = 51) of patients had carotid body tumours, 25.2% (<i>n</i> = 22) glomus vagal tumours, 6.8% (<i>n</i> = 6) tumours in the middle ear, 2.2% (<i>n</i> = 2) in the parapharyngeal space and 1.1% (<i>n</i> = 1) in the sphenoid sinus. 5.7% (<i>n</i> = 5) of patients had multifocal disease. The mean tumour size at presentation was 3.2 ± 1.4 cm (range 0.5–6.9 cm). Pathogenic SDHD mutations were identified in 41.3% (<i>n</i> = 36), SDHB in 12.6% (<i>n</i> = 11), SDHC in 2.2% (<i>n</i> = 2) and SDHA in 1.1% (<i>n</i> = 1) of the patients. Overall treatment modalities included surgery alone in 51.7% (<i>n</i> = 45) of patients, radiotherapy in 14.9% (<i>n</i> = 13), observation in 28.7% (<i>n</i> = 25), and somatostatin analogue therapy with octreotide in 4.5% (<i>n</i> = 4) of patients. Factors associated with a significantly higher risk of recurrence included age over 60 years (<i>p</i> = .04), tumour size exceeding 2 cm (<i>p</i> = .03), positive SDHx variants (<i>p</i> = .01), and vagal and jugular tumours (<i>p</i> = .04).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The majority of our patients underwent initial surgical intervention and achieved disease stability. Our results suggest that carefully selected asymptomatic or medically unfit patients can be safely observed provided lifelong surveillance is maintained. We advocate for the establishment of a UK and Ireland national HNPGL registry, to delineate optimal management strategies for these rare tumours and improve long term outcomes.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140828254","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Current utility of first-line FT4 and TSH in screening for central hypothyroidism","authors":"Carol Evans,&nbsp;Jiya Jacob,&nbsp;Annabel Rodham,&nbsp;Manjot Gill,&nbsp;Laura Parry,&nbsp;Alan Dodd,&nbsp;Nadia El-Farhan,&nbsp;Angharad Shore,&nbsp;Andrew Lansdown,&nbsp;Aled Rees,&nbsp;Onyebuchi E. Okosieme","doi":"10.1111/cen.15068","DOIUrl":"10.1111/cen.15068","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Thyroid testing strategies vary across laboratories. First-line combined thyroid stimulating hormone (TSH) and freeT4 (FT4) have historically been preferred by many laboratories as this detects individuals with undiagnosed central hypothyroidism who can be missed with a first-line TSH-only strategy. However, an up-to-date evaluation of the utility of this approach is lacking.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>We investigated the clinical utility of first-line TSH and FT4 in the detection of central hypothyroidism in current day practice.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Design, Patients, and Measurements</h3>\u0000 \u0000 <p>The All-Wales laboratory information system was queried to identify thyroid function tests in patients aged ≥16 years with decreased FT4 and inappropriate TSH (low-FT4). The 1-year incidence of low-FT4 was determined using mid-year population data. Clinical information of patients with low-FT4 was reviewed to determine causes of low-FT4 and the incidence of central hypothyroidism.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The incidence of low-FT4 varied according to FT4 assay method (range: 98–301 cases/100,000 population/year). Fifteen new cases of central hypothyroidism were detected in two health boards, equivalent to 2 cases/100,000 population/year. Positive predictive value of low-FT4 for central hypothyroidism was 2%–4%. In a cross-section of primary care patients, low-FT4 was detected in 0.5% of all thyroid tests with assay-related differences in detection rates.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Although low-FT4 is a common laboratory finding, the incidence of central hypothyroidism remains rare. With the currently increased rates of thyroid testing and increased use of medications that decrease FT4, low-FT4 has a much lower predictive value for central hypothyroidism than previously reported. Thyroid screening strategies will need to balance the yield from first line TSH and FT4 testing with the cost of investigating individuals with non-pathological laboratory abnormalities.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cen.15068","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140828271","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A long-term prognosis study of human USP8-mutated ACTH-secreting pituitary neuroendocrine tumours","authors":"Hui Miao,&nbsp;Luo Wang,&nbsp;Fengying Gong,&nbsp;Lian Duan,&nbsp;Linjie Wang,&nbsp;Yong Yao,&nbsp;Ming Feng,&nbsp;Kan Deng,&nbsp;Renzhi Wang,&nbsp;Yu Xiao,&nbsp;Qing Ling,&nbsp;Huijuan Zhu,&nbsp;Lin Lu","doi":"10.1111/cen.15065","DOIUrl":"10.1111/cen.15065","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Somatic variants in the ubiquitin-specific protease 8 (<i>USP8</i>) gene are the most common genetic cause of Cushing disease. We aimed to explore the relationship between clinical outcomes and <i>USP8</i> status in a single centre.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Design, patients and measurements</h3>\u0000 \u0000 <p>We investigated the <i>USP8</i> status in 48 patients with pituitary corticotroph tumours. A median of 62 months of follow-up was conducted after surgery from November 2013 to January 2015. The clinical, biochemical and imaging features were collected and analysed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Seven <i>USP8</i> variants (p.Ser718Pro, p.Ser719del, p.Pro720Arg, p.Pro720Gln, p.Ser718del, p.Ser718Phe, p.Lys713Arg) were identified in 24 patients (50%). <i>USP8</i> variants showed a female predominance (100% vs. 75% in wild type [WT], <i>p</i> = .022). Patients with p.Ser719del showed an older age at surgery compared to patients with the p.Pro720Arg variant (47- vs. 24-year-olds, <i>p</i> = .033). Patients with p.Pro720Arg showed a higher rate of macroadenoma compared to patients harbouring the p.Ser718Pro variant (60% vs. 0%, <i>p</i> = .037). No significant differences were observed in serum and urinary cortisol and adrenocorticotropin hormone (ACTH) levels. Immediate surgical remission (79% vs. 75%) and long-term hormone remission (79% vs. 67%) were not significantly different between the two groups. The recurrence rate was 21% (4/19) in patients harbouring <i>USP8</i> variants and 13% (2/16) in WT patients. Recurrence-free survival presented a tendency to be shorter in <i>USP8</i>-mutated individuals (76.7 vs. 109.2 months, <i>p</i> = .068).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Somatic <i>USP8</i> variants accounted for 50% of the genetic causes in this cohort with a significant female frequency. A long-term follow-up revealed a tendency toward shorter recurrence-free survival in <i>USP8</i>-mutant patients.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140828067","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}