Rohit Barnabas, Anurag Ranjan Lila, Saba Samad Memon, Manjiri Karlekar, Sneha Arya, Kunal Thakkar, Hemangini Thakkar, Virendra Patil, Vijaya Sarathi, Nalini S. Shah, Tushar R. Bandgar
Introduction
Biochemical evaluation of 46, XY disorders of sex development(DSD) remains challenging due to overlapping profiles and limited validation in genetically proven cases. We studied the diagnostic accuracy of serum hormonal parameters in a well-characterized cohort.
Methods
Post-hoc hormonal analysis of a prospective study on genetics of 46, XY DSD(n = 165) was performed. Etiological diagnosis was primarily based on genotypic data. Patients without pathogenic genetic variants but with mullerian structures were classified as having gonadal dysgenesis(GD). Serum hormone levels during mini-pubertal, prepubertal, and pubertal stages were analyzed for diagnostic accuracy across etiological subgroups.
Results
In GD, high serum FSH effectively distinguished others across all stages:mini puberty(AUC 0.896; sensitivity 75%, specificity 94.4% at 5.95 IU/L), prepuberty (AUC 0.860; sensitivity 60%, specificity 92.1% at 3.72 IU/L), and puberty (AUC 0.925; sensitivity 89.3%, specificity 90.6% at 38.15 IU/L). In17βHSD3D,(a gonadal steroidogenesis defect), prepubertal hCG-stimulated androstenedione(AUC = 0.929, cutoff 0.53 ng/ml, sensitivity 80%, specificity 80%) and Testosterone/Androstenedione(T/A) ratio(AUC = 0.898, cutoff 1.66, sensitivity 80%, specificity 94.5%) were diagnostic, while T/A cutoff 0.8 had 20% sensitivity. For SRD5A2,(testosterone metabolism defect), low pubertal LH(AUC = 0.908, cutoff 7.11 IU/L, sensitivity 75%, specificity 87.5%) was discriminatory, while prepubertal T/DHT cutoff 10 had 20% specificity. Androgen sensitivity index(ASI)(AUC = 0.972, cutoff 95.27, sensitivity 93.8%, specificity 93.3%) had highest diagnostic accuracy for androgen insensitivity syndrome(an androgen inaction) in pubertal stage.
Conclusion
This study identifies FSH, stimulated T/A (> 1.6), ASI, and LH as key discriminatory markers for etiological diagnosis in 46, XY DSD, while suggesting that traditional cutoffs like stimulated T/DHT > 10 and T/A < 0.8 may have limited utility emphasizing the need for rapid genetic analysis.
{"title":"Diagnostic Accuracy of Serum Steroids and Peptides in the Evaluation of 46, XY Disorders of Sex Development (DSD)","authors":"Rohit Barnabas, Anurag Ranjan Lila, Saba Samad Memon, Manjiri Karlekar, Sneha Arya, Kunal Thakkar, Hemangini Thakkar, Virendra Patil, Vijaya Sarathi, Nalini S. Shah, Tushar R. Bandgar","doi":"10.1111/cen.70017","DOIUrl":"10.1111/cen.70017","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Biochemical evaluation of 46, XY disorders of sex development(DSD) remains challenging due to overlapping profiles and limited validation in genetically proven cases. We studied the diagnostic accuracy of serum hormonal parameters in a well-characterized cohort.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Post-hoc hormonal analysis of a prospective study on genetics of 46, XY DSD(<i>n</i> = 165) was performed. Etiological diagnosis was primarily based on genotypic data. Patients without pathogenic genetic variants but with mullerian structures were classified as having gonadal dysgenesis(GD). Serum hormone levels during mini-pubertal, prepubertal, and pubertal stages were analyzed for diagnostic accuracy across etiological subgroups.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In GD, high serum FSH effectively distinguished others across all stages:mini puberty(AUC 0.896; sensitivity 75%, specificity 94.4% at 5.95 IU/L), prepuberty (AUC 0.860; sensitivity 60%, specificity 92.1% at 3.72 IU/L), and puberty (AUC 0.925; sensitivity 89.3%, specificity 90.6% at 38.15 IU/L). In17βHSD3D,(a gonadal steroidogenesis defect), prepubertal hCG-stimulated androstenedione(AUC = 0.929, cutoff 0.53 ng/ml, sensitivity 80%, specificity 80%) and Testosterone/Androstenedione(T/A) ratio(AUC = 0.898, cutoff 1.66, sensitivity 80%, specificity 94.5%) were diagnostic, while T/A cutoff 0.8 had 20% sensitivity. For SRD5A2,(testosterone metabolism defect), low pubertal LH(AUC = 0.908, cutoff 7.11 IU/L, sensitivity 75%, specificity 87.5%) was discriminatory, while prepubertal T/DHT cutoff 10 had 20% specificity. Androgen sensitivity index(ASI)(AUC = 0.972, cutoff 95.27, sensitivity 93.8%, specificity 93.3%) had highest diagnostic accuracy for androgen insensitivity syndrome(an androgen inaction) in pubertal stage.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>This study identifies FSH, stimulated T/A (> 1.6), ASI, and LH as key discriminatory markers for etiological diagnosis in 46, XY DSD, while suggesting that traditional cutoffs like stimulated T/DHT > 10 and T/A < 0.8 may have limited utility emphasizing the need for rapid genetic analysis.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":"103 6","pages":"823-832"},"PeriodicalIF":2.4,"publicationDate":"2025-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144834313","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}
Juan C. Galofré, Juan J. Díez, Roberto Attanasio, Endre V. Nagy, Tomasz Bednarczuk, Enrico Papini, Miloš Žarković, Roberto Negro, Petros Perros, Ersin Akarsu, Maria Alevizaki, Göksun Ayvaz, Eszter Berta, Biljana Nedeljković Beleslin, Miklos Bodor, Anna Maria Borissova, Mihail Boyanov, Maria-Cristina Burlacu, Jasmina Ćirić, Valentin Fadeyev, Benjamin C. T. Field, Dagmar Führer, Jiskra Jan, Peter Kopp, Michael Krebs, Michal Kršek, Ivica Lazúrová, Vitaliy Luchytskiy, Francisca Marques Puga, Anne McGowan, Miguel Melo, Saara Metso, Carla Moran, Tatyana Morgunova, Dan Alexandru Niculescu, Božidar Perić, Tereza Planck, Eyal Robenshtok, Patrick Olivier Rosselet, Marek Ruchala, Alla Shepelkevich, Mykola Tronko, David Unuane, Irfan Vardarli, W Edward Visser, Andromachi Vryonidou, Younes R. Younes, Laszlo Hegedüs
Objective
A relationship among hypothyroidism and lipid disorders is well established. However, current evidence and guidelines do not support the use of thyroid hormones (TH) in euthyroid patients with hyperlipidaemia as potential harms are considerable. This European survey investigated the use of TH in euthyroid patients with severe hypercholesterolemia as a complementary treatment.
Design
Data were derived from the THESIS (Treatment of Hypothyroidism in Europe by Specialists) project that surveyed TH use. Univariable and multivariable analyses were used to explore associations.
Results
Out of 17,232 invitations, 5695 (33.0%) valid responses were received, and of these, 328 (5.8%) stated that TH are indicated in euthyroid patients with severe hypercholesterolemia. Univariable analyses disclosed significant differences and associations: (a) more non-endocrinologists (8.9%) than endocrinologist (5.4%) used TH (p < 0.001), (b) the number of hypothyroid patients treated per year was inversely related to use of TH (p = 0.024), (c) members of international endocrine/thyroid societies were more likely to use TH than non-members (p < 0.001), (d) significant variations by country and geographical region (p < 0.001), and (e) inverse relationship between gross national income per capita (GNIPC) and TH use (p < 0.001). Multivariable analyses yielded significant associations between use of TH, and male gender, specialty and GNIPC (p < 0.001).
Conclusions
This study suggests that a small but noteworthy minority of European thyroid specialists may be using TH to treat of severe hypercholesterolemia in euthyroid patients. If confirmed, this finding highlights the importance of raising awareness among thyroid specialists, professional societies, and healthcare providers to ensure adherence to evidence-based practices.
{"title":"Thyroid Hormone Treatment for Hypercholesterolemia in Euthyroid Patients: Results From a European Survey of Thyroid Specialists","authors":"Juan C. Galofré, Juan J. Díez, Roberto Attanasio, Endre V. Nagy, Tomasz Bednarczuk, Enrico Papini, Miloš Žarković, Roberto Negro, Petros Perros, Ersin Akarsu, Maria Alevizaki, Göksun Ayvaz, Eszter Berta, Biljana Nedeljković Beleslin, Miklos Bodor, Anna Maria Borissova, Mihail Boyanov, Maria-Cristina Burlacu, Jasmina Ćirić, Valentin Fadeyev, Benjamin C. T. Field, Dagmar Führer, Jiskra Jan, Peter Kopp, Michael Krebs, Michal Kršek, Ivica Lazúrová, Vitaliy Luchytskiy, Francisca Marques Puga, Anne McGowan, Miguel Melo, Saara Metso, Carla Moran, Tatyana Morgunova, Dan Alexandru Niculescu, Božidar Perić, Tereza Planck, Eyal Robenshtok, Patrick Olivier Rosselet, Marek Ruchala, Alla Shepelkevich, Mykola Tronko, David Unuane, Irfan Vardarli, W Edward Visser, Andromachi Vryonidou, Younes R. Younes, Laszlo Hegedüs","doi":"10.1111/cen.70014","DOIUrl":"10.1111/cen.70014","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>A relationship among hypothyroidism and lipid disorders is well established. However, current evidence and guidelines do not support the use of thyroid hormones (TH) in euthyroid patients with hyperlipidaemia as potential harms are considerable. This European survey investigated the use of TH in euthyroid patients with severe hypercholesterolemia as a complementary treatment.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Design</h3>\u0000 \u0000 <p>Data were derived from the THESIS (Treatment of Hypothyroidism in Europe by Specialists) project that surveyed TH use. Univariable and multivariable analyses were used to explore associations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Out of 17,232 invitations, 5695 (33.0%) valid responses were received, and of these, 328 (5.8%) stated that TH are indicated in euthyroid patients with severe hypercholesterolemia. Univariable analyses disclosed significant differences and associations: (a) more non-endocrinologists (8.9%) than endocrinologist (5.4%) used TH (<i>p</i> < 0.001), (b) the number of hypothyroid patients treated per year was inversely related to use of TH (<i>p</i> = 0.024), (c) members of international endocrine/thyroid societies were more likely to use TH than non-members (<i>p</i> < 0.001), (d) significant variations by country and geographical region (<i>p</i> < 0.001), and (e) inverse relationship between gross national income per capita (GNIPC) and TH use (<i>p</i> < 0.001). Multivariable analyses yielded significant associations between use of TH, and male gender, specialty and GNIPC (<i>p</i> < 0.001).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This study suggests that a small but noteworthy minority of European thyroid specialists may be using TH to treat of severe hypercholesterolemia in euthyroid patients. If confirmed, this finding highlights the importance of raising awareness among thyroid specialists, professional societies, and healthcare providers to ensure adherence to evidence-based practices.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":"103 5","pages":"749-756"},"PeriodicalIF":2.4,"publicationDate":"2025-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144820747","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}
Martin Nilsson, J. Gustav Smith, Mark Thier, Erik Nordenström, Anders Bergenfelz, Martin Almquist
Objective
Although previous studies have shown reduced cardiovascular events following parathyroidectomy (PTX), it is unclear whether this extends to contemporary patients diagnosed and treated with milder disease than previously. The aim of this nation-wide study was to determine the effect on cardiovascular events after PTX, and to comprehensively evaluate cardiovascular disease manifestations in patients with primary hyperparathyroidism, (pHPT).
Design
The cohort consisted of 5009 patients who underwent PTX and were identified from the Scandinavian Quality Register for Thyroid, Parathyroid and Adrenal Surgery. Patients were matched with 14,983 population controls.
Methods
Data was linked with the National Patient and Death Registries. Incidence rate ratios (IRRs) were estimated before and after PTX for recurrent events of acute myocardial infarction, stroke, transient ischemic attack (TIA), and first-onset diagnoses of coronary artery disease, heart failure, aortic and mitral valve stenosis, carotid artery stenosis, peripheral artery disease, and aortic aneurysm (AA). Serum calcium and gland weight were analysed as predictors.
Results
TIA was increased in patients pre-and postoperatively with a peak 1–4 years before PTX (IRR: 2.06, CI 95%: 1.31–3.25). The incidence rates for acute myocardial infarction and stroke were not increased pre- and postoperatively. Mitral valve stenosis (IRR: 3.22, 1.51–6.85), and heart failure (IRR: 1.37, 1.11–1.67) were increased preoperatively, but not postoperatively. AA was increased pre- and postoperatively.
Conclusions
The incidence rates for mitral valve stenosis and heart failure were increased preoperatively in patients with pHPT, normalizing after surgery. In contrast, the incidence of TIA and AA remained elevated postoperatively.
目的：虽然以前的研究表明甲状旁腺切除术（PTX）后心血管事件减少，但尚不清楚这是否适用于诊断和治疗的疾病较以前轻的当代患者。这项全国性研究的目的是确定PTX对心血管事件的影响，并综合评估原发性甲状旁腺功能亢进（pHPT）患者的心血管疾病表现。设计：该队列包括5009名接受PTX治疗的患者，这些患者来自斯堪的纳维亚甲状腺、甲状旁腺和肾上腺外科质量登记。患者与14983名对照人群相匹配。方法：数据与国家患者和死亡登记处相关联。评估PTX前后急性心肌梗死、卒中、短暂性脑缺血发作（TIA）复发事件的发生率比（IRRs），以及冠状动脉疾病、心力衰竭、主动脉瓣和二尖瓣狭窄、颈动脉狭窄、外周动脉疾病和主动脉瘤（AA）的首发诊断。分析血清钙和腺体重量作为预测因素。结果：TIA在术前和术后均有所增加，在PTX前1-4年达到高峰（IRR: 2.06, CI 95%: 1.31-3.25）。术前和术后急性心肌梗死和脑卒中的发生率均未升高。二尖瓣狭窄（IRR: 3.22, 1.51-6.85）和心力衰竭（IRR: 1.37, 1.11-1.67）术前升高，但术后无升高。术前和术后AA均升高。结论：pHPT患者二尖瓣狭窄和心力衰竭的发生率术前增高，术后恢复正常。相比之下，术后TIA和AA的发生率仍然升高。
{"title":"Cardiovascular Morbidity in Patients Undergoing Successful Surgery for Primary Hyperparathyroidism","authors":"Martin Nilsson, J. Gustav Smith, Mark Thier, Erik Nordenström, Anders Bergenfelz, Martin Almquist","doi":"10.1111/cen.70015","DOIUrl":"10.1111/cen.70015","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Although previous studies have shown reduced cardiovascular events following parathyroidectomy (PTX), it is unclear whether this extends to contemporary patients diagnosed and treated with milder disease than previously. The aim of this nation-wide study was to determine the effect on cardiovascular events after PTX, and to comprehensively evaluate cardiovascular disease manifestations in patients with primary hyperparathyroidism, (pHPT).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Design</h3>\u0000 \u0000 <p>The cohort consisted of 5009 patients who underwent PTX and were identified from the Scandinavian Quality Register for Thyroid, Parathyroid and Adrenal Surgery. Patients were matched with 14,983 population controls.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Data was linked with the National Patient and Death Registries. Incidence rate ratios (IRRs) were estimated before and after PTX for recurrent events of acute myocardial infarction, stroke, transient ischemic attack (TIA), and first-onset diagnoses of coronary artery disease, heart failure, aortic and mitral valve stenosis, carotid artery stenosis, peripheral artery disease, and aortic aneurysm (AA). Serum calcium and gland weight were analysed as predictors.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>TIA was increased in patients pre-and postoperatively with a peak 1–4 years before PTX (IRR: 2.06, CI 95%: 1.31–3.25). The incidence rates for acute myocardial infarction and stroke were not increased pre- and postoperatively. Mitral valve stenosis (IRR: 3.22, 1.51–6.85), and heart failure (IRR: 1.37, 1.11–1.67) were increased preoperatively, but not postoperatively. AA was increased pre- and postoperatively.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The incidence rates for mitral valve stenosis and heart failure were increased preoperatively in patients with pHPT, normalizing after surgery. In contrast, the incidence of TIA and AA remained elevated postoperatively.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":"103 5","pages":"669-681"},"PeriodicalIF":2.4,"publicationDate":"2025-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cen.70015","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144820746","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}
Anna Liu, Deric Morrison, Laszlo Hegedüs, Endre V. Nagy, Enrico Papini, Petros Perros, Roberto Attanasio, Roberto Negro, Stan Van Uum, Birte Nygaard, Steen J. Bonnema, Kamilla R. Riis
Objective
The practice of treating hypothyroid and euthyroid patients with thyroid hormones varies between countries, as observed in the recent surveys of European thyroid experts, THESIS. As part of the THESIS initiative, we investigated Canadian endocrinologists′ perspectives on this topic, focusing on combination therapy with either liothyronine (LT3) plus levothyroxine (LT4) or desiccated thyroid extract (DTE).
Design
Members of the Canadian Society of Endocrinology and Metabolism (CSEM) were invited to participate in an anonymous online survey.
Results
Out of 348 eligible CSEM members, 68 (19.5%) respondents were included in the analysis. All respondents used LT4 as the first-line treatment for hypothyroid patients. Many respondents (64.7%) would consider LT4 + LT3 for patients on LT4 with persistent symptoms, whereas fewer would consider DTE (16.2%). Most respondents attributed persistent symptoms in LT4-treated patients to psychosocial factors, comorbidities, or unrealistic expectations. Approximately half of the respondents stated that thyroid hormone therapy is never indicated for euthyroid patients. The remaining respondents considered thyroid hormones for euthyroid women with infertility and high thyroid antibody levels (36.8%), depression (13.2%), and growing goiter (7.4%).
Conclusions
Following current guidelines, LT4 tablet is the preferred treatment for hypothyroidism. Most respondents would consider triiodothyronine-containing therapy for patients with persistent symptoms, preferring LT4 + LT3 over DTE. The number of endocrinologists considering combination therapy for hypothyroid patients in Canada was higher than in Europe. Finally, at variance with current guidelines, a fraction of the respondents would consider thyroid hormones in patients with non-thyroidal conditions.
{"title":"Canadian Endocrinologists′ Perspectives on Treatment With Thyroid Hormone Substitutions in Euthyroid and Hypothyroid Patients: A 2023 THESIS Questionnaire Survey","authors":"Anna Liu, Deric Morrison, Laszlo Hegedüs, Endre V. Nagy, Enrico Papini, Petros Perros, Roberto Attanasio, Roberto Negro, Stan Van Uum, Birte Nygaard, Steen J. Bonnema, Kamilla R. Riis","doi":"10.1111/cen.70009","DOIUrl":"10.1111/cen.70009","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The practice of treating hypothyroid and euthyroid patients with thyroid hormones varies between countries, as observed in the recent surveys of European thyroid experts, THESIS. As part of the THESIS initiative, we investigated Canadian endocrinologists′ perspectives on this topic, focusing on combination therapy with either liothyronine (LT3) plus levothyroxine (LT4) or desiccated thyroid extract (DTE).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Design</h3>\u0000 \u0000 <p>Members of the Canadian Society of Endocrinology and Metabolism (CSEM) were invited to participate in an anonymous online survey.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Out of 348 eligible CSEM members, 68 (19.5%) respondents were included in the analysis. All respondents used LT4 as the first-line treatment for hypothyroid patients. Many respondents (64.7%) would consider LT4 + LT3 for patients on LT4 with persistent symptoms, whereas fewer would consider DTE (16.2%). Most respondents attributed persistent symptoms in LT4-treated patients to psychosocial factors, comorbidities, or unrealistic expectations. Approximately half of the respondents stated that thyroid hormone therapy is never indicated for euthyroid patients. The remaining respondents considered thyroid hormones for euthyroid women with infertility and high thyroid antibody levels (36.8%), depression (13.2%), and growing goiter (7.4%).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Following current guidelines, LT4 tablet is the preferred treatment for hypothyroidism. Most respondents would consider triiodothyronine-containing therapy for patients with persistent symptoms, preferring LT4 + LT3 over DTE. The number of endocrinologists considering combination therapy for hypothyroid patients in Canada was higher than in Europe. Finally, at variance with current guidelines, a fraction of the respondents would consider thyroid hormones in patients with non-thyroidal conditions.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":"103 5","pages":"739-748"},"PeriodicalIF":2.4,"publicationDate":"2025-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cen.70009","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144815869","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}
The diffuse sclerosing variant of papillary thyroid carcinoma (DSV-PTC) is a rare, aggressive subtype with distinct clinicopathological features. This study aimed to characterize its molecular alterations and evaluate their clinical associations.
Methods
A retrospective analysis of 51 DSV-PTC cases was conducted. Clinicopathological data were reviewed, and molecular profiling was performed using fluorescent PCR to detect mutations and gene fusions across 12 thyroid cancer-related genes.
Results
This study included eight paediatric cases (15.7%) and 43 adult cases (84.3%) of DSV-PTC. The most common alteration was BRAF mutation (39.2%), followed by RET fusions (25.5%; including CCDC6-RET in 23.5% and NCOA4-RET in 2.0%), ETV6-NTRK3 fusion (5.9%) and TERT promoter mutations (2.0%). Compared with BRAF-mutated tumours, RET fusion-positive cases showed significantly larger primary tumours (p = 0.016), larger metastatic nodes (p = 0.009) and higher T stages (p = 0.046). Paediatric patients exhibited more aggressive features, such as higher rates of lateral neck metastasis and extrathyroidal extension, but had fewer BRAF mutations. The overall recurrence rate was 15.7%, with earlier recurrence in RET fusion cases. One patient with coexisting ETV6-NTRK3 fusion and TERT mutation progressed to anaplastic thyroid carcinoma and died of disease.
Conclusion
DSV-PTC demonstrates substantial molecular heterogeneity. RET fusions are linked to more aggressive behaviour, and paediatric cases often show extensive locoregional spread. Coexisting NTRK and TERT alterations may signal high-risk progression, highlighting the value of molecular stratification in management.
{"title":"Exploring the Molecular Features and Clinicopathological Correlations of Diffuse Sclerosing Papillary Thyroid Carcinoma","authors":"Yanhui Zhang, Tingting Ding, Runfen Cheng, Ying Wang, Jianghua Wu","doi":"10.1111/cen.70013","DOIUrl":"10.1111/cen.70013","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The diffuse sclerosing variant of papillary thyroid carcinoma (DSV-PTC) is a rare, aggressive subtype with distinct clinicopathological features. This study aimed to characterize its molecular alterations and evaluate their clinical associations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A retrospective analysis of 51 DSV-PTC cases was conducted. Clinicopathological data were reviewed, and molecular profiling was performed using fluorescent PCR to detect mutations and gene fusions across 12 thyroid cancer-related genes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>This study included eight paediatric cases (15.7%) and 43 adult cases (84.3%) of DSV-PTC. The most common alteration was <i>BRAF</i> mutation (39.2%), followed by <i>RET</i> fusions (25.5%; including <i>CCDC6-RET</i> in 23.5% and <i>NCOA4-RET</i> in 2.0%), <i>ETV6-NTRK3</i> fusion (5.9%) and <i>TERT</i> promoter mutations (2.0%). Compared with <i>BRAF</i>-mutated tumours, <i>RET</i> fusion-positive cases showed significantly larger primary tumours (<i>p</i> = 0.016), larger metastatic nodes (<i>p</i> = 0.009) and higher T stages (<i>p</i> = 0.046). Paediatric patients exhibited more aggressive features, such as higher rates of lateral neck metastasis and extrathyroidal extension, but had fewer <i>BRAF</i> mutations. The overall recurrence rate was 15.7%, with earlier recurrence in <i>RET</i> fusion cases. One patient with coexisting <i>ETV6-NTRK3</i> fusion and <i>TERT</i> mutation progressed to anaplastic thyroid carcinoma and died of disease.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>DSV-PTC demonstrates substantial molecular heterogeneity. <i>RET</i> fusions are linked to more aggressive behaviour, and paediatric cases often show extensive locoregional spread. Coexisting <i>NTRK</i> and <i>TERT</i> alterations may signal high-risk progression, highlighting the value of molecular stratification in management.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":"103 5","pages":"729-738"},"PeriodicalIF":2.4,"publicationDate":"2025-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144815870","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}
Christian Rosendal, Annika Vestergaard Kvist, Rogério Pessoto Hirata, Peter Vestergaard, Jakob Dal
Objective
Balance impairment is an underrecognized complication of acromegaly with potentially serious consequences for affected patients. In this study, we aimed to assess the balance in patients with long-term acromegaly compared to non-acromegalic controls.
Design
Cross-sectional study.
Patients and Measurements
Seventeen patients with acromegaly and 17 age- and sex-matched controls were examined using a force platform measuring the Centre of Pressure area (CoParea) and velocity (CoPvelocity), the timed up-and-go (TUG) test, hand grip and knee extension dynamometry, nerve conduction measurements, visual acuity tests, and questionnaires concerning fear of falling and joint pain (Falls Efficacy Scale [FES-I] and Western Ontario and McMaster Universities Osteoarthritis Index [WOMAC]). Descriptive statistics and linear regression analyses were used to compare groups.
Results
Compared to controls, participants with acromegaly (mean acromegaly duration 13 [±8.8] years, latest mean IGF-I standard deviation score 1.2 [±1.59]) had significantly increased CoParea adjusted for neural and visual function. When performing a difficult executive task, the CoParea was impaired, both with (β: 2.24 [1.29; 3.92], p = 0.01) and without (β: 2.09 [1.02; 4.26], p = 0.04) a cushion under their feet, as compared to controls. Mean TUG time was significantly higher in patients with acromegaly than controls (β: 1.24 [0.07; 2.42], p = 0.04), and correlated with self-reported joint pain (β: 0.04 [0.0004; 0.08], p = 0.05).
Conclusions
Both static and dynamic balance is impaired in patients with long-term controlled acromegaly, warranting clinical attention. Further studies are needed to address therapeutic options for this overlooked and potentially serious complication.
目的：平衡障碍是肢端肥大症的一种未被充分认识的并发症，对患者有潜在的严重后果。在这项研究中，我们旨在评估长期肢端肥大症患者与非肢端肥大症对照组的平衡。设计：横断面研究。患者及测量：17例肢端肥大症患者和17例年龄和性别匹配的对照组采用测量压力中心面积（CoParea）和速度（CoPvelocity）的力平台、时间起落（TUG）测试、手部握力和膝关节伸展力测量、神经传导测量、视力测试和关于害怕跌倒和关节疼痛的问卷（跌倒疗效量表[FES-I]和西安大略省和麦克马斯特大学骨关节炎指数[WOMAC]）进行检查。组间比较采用描述性统计和线性回归分析。结果：与对照组相比，肢端肥大症患者（肢端肥大症平均病程13[±8.8]年，最近平均IGF-I标准差评分1.2[±1.59]）的神经和视觉功能调整后的CoParea显著增加。当执行困难的执行任务时，CoParea受损，均为(β: 2.24 [1.29；3.92], p = 0.01)和无(β: 2.09 [1.02；4.26], p = 0.04)，与对照组相比，他们脚下有一个垫子。肢端肥大症患者的平均TUG时间显著高于对照组(β: 1.24 [0.07；2.42], p = 0.04)，且与自我报告的关节疼痛相关(β: 0.04 [0.0004；0.08], p = 0.05)。结论：长期控制肢端肥大症患者的静态和动态平衡均受损，值得临床注意。需要进一步的研究来解决这种被忽视的潜在严重并发症的治疗选择。
{"title":"Static and Dynamic Balance Is Impaired in Patients With Long-Term, Well-Controlled Acromegaly: A Cross-Sectional Study","authors":"Christian Rosendal, Annika Vestergaard Kvist, Rogério Pessoto Hirata, Peter Vestergaard, Jakob Dal","doi":"10.1111/cen.70010","DOIUrl":"10.1111/cen.70010","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Balance impairment is an underrecognized complication of acromegaly with potentially serious consequences for affected patients. In this study, we aimed to assess the balance in patients with long-term acromegaly compared to non-acromegalic controls.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Design</h3>\u0000 \u0000 <p>Cross-sectional study.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Patients and Measurements</h3>\u0000 \u0000 <p>Seventeen patients with acromegaly and 17 age- and sex-matched controls were examined using a force platform measuring the Centre of Pressure area (CoP<sub>area</sub>) and velocity (CoP<sub>velocity</sub>), the timed up-and-go (TUG) test, hand grip and knee extension dynamometry, nerve conduction measurements, visual acuity tests, and questionnaires concerning fear of falling and joint pain (Falls Efficacy Scale [FES-I] and Western Ontario and McMaster Universities Osteoarthritis Index [WOMAC]). Descriptive statistics and linear regression analyses were used to compare groups.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Compared to controls, participants with acromegaly (mean acromegaly duration 13 [±8.8] years, latest mean IGF-I standard deviation score 1.2 [±1.59]) had significantly increased CoP<sub>area</sub> adjusted for neural and visual function. When performing a difficult executive task, the CoP<sub>area</sub> was impaired, both with (<i>β</i>: 2.24 [1.29; 3.92], <i>p</i> = 0.01) and without (<i>β</i>: 2.09 [1.02; 4.26], <i>p</i> = 0.04) a cushion under their feet, as compared to controls. Mean TUG time was significantly higher in patients with acromegaly than controls (<i>β</i>: 1.24 [0.07; 2.42], <i>p</i> = 0.04), and correlated with self-reported joint pain (<i>β</i>: 0.04 [0.0004; 0.08], <i>p</i> = 0.05).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Both static and dynamic balance is impaired in patients with long-term controlled acromegaly, warranting clinical attention. Further studies are needed to address therapeutic options for this overlooked and potentially serious complication.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":"103 5","pages":"703-710"},"PeriodicalIF":2.4,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cen.70010","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144788411","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}
In patients with hypercalcaemia, assessment of urinary calcium excretion helps differentiate primary hyperparathyroidism (PHPT) from familial hypocalciuric hypercalcaemia (FHH). For this, 24 h calcium to creatinine clearance ratio (CCCR) is recommended, but others tests like random CCCR, 24 h urine calcium excretion (UCE), and calcium to creatinine ratio (CR) are also frequently used.
Objective
The survey objective was to evaluate current practice among UK endocrinologists and surgeons.
Methods
A web-based anonymous cross-sectional survey, consisting of eight multiple-choice questions was developed using Survey Monkey. The survey was disseminated to members of British Association of Endocrine and Thyroid Surgeons (BAETS) and Society for Endocrinology (SfE) between November 20, 2025 and December 19, 2024.
Results
Two hundred and sixty-six responses from 210 endocrinologists and 56 surgeons were received (85% consultants). Respondents worked in both university (48.9%) and district hospitals (47.7%). The most commonly performed urine calcium test in hypercalcaemic patients was 24 h UCE (58.6%), but for PHPT versus FHH differentiation, the most preferred test was 24 h CCCR (43.6%), followed by random CCCR (24.8%), 24 h UCE (14.3%), and CR (16.5%). Of respondents who had experience with using CCCR (n = 235), most (55.6%) used a cut-off of > 0.01 to rule out FHH, while > 0.02 cut off was used by 26.7% respondents. Most clinicians (70.3%) used albumin-adjusted calcium for CCCR calculation, and 71.4% respondents considered vitamin D levels ≥ 50 nmol/L to be adequate for urinary calcium measurement.
Conclusion
The survey provides valuable insight into current UK practice. 24 h and random CCCR are the most commonly used tests to exclude FHH, but overall, practice varies widely.
{"title":"Urinary Calcium Measurement in Patients With Hypercalcaemia; Endocrine Physicians and Surgeons Survey Results From UK","authors":"Muhammad Fahad Arshad, Saba P. Balasubramanian","doi":"10.1111/cen.70008","DOIUrl":"10.1111/cen.70008","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>In patients with hypercalcaemia, assessment of urinary calcium excretion helps differentiate primary hyperparathyroidism (PHPT) from familial hypocalciuric hypercalcaemia (FHH). For this, 24 h calcium to creatinine clearance ratio (CCCR) is recommended, but others tests like random CCCR, 24 h urine calcium excretion (UCE), and calcium to creatinine ratio (CR) are also frequently used.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The survey objective was to evaluate current practice among UK endocrinologists and surgeons.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A web-based anonymous cross-sectional survey, consisting of eight multiple-choice questions was developed using Survey Monkey. The survey was disseminated to members of British Association of Endocrine and Thyroid Surgeons (BAETS) and Society for Endocrinology (SfE) between November 20, 2025 and December 19, 2024.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Two hundred and sixty-six responses from 210 endocrinologists and 56 surgeons were received (85% consultants). Respondents worked in both university (48.9%) and district hospitals (47.7%). The most commonly performed urine calcium test in hypercalcaemic patients was 24 h UCE (58.6%), but for PHPT versus FHH differentiation, the most preferred test was 24 h CCCR (43.6%), followed by random CCCR (24.8%), 24 h UCE (14.3%), and CR (16.5%). Of respondents who had experience with using CCCR (<i>n</i> = 235), most (55.6%) used a cut-off of > 0.01 to rule out FHH, while > 0.02 cut off was used by 26.7% respondents. Most clinicians (70.3%) used albumin-adjusted calcium for CCCR calculation, and 71.4% respondents considered vitamin D levels ≥ 50 nmol/L to be adequate for urinary calcium measurement.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The survey provides valuable insight into current UK practice. 24 h and random CCCR are the most commonly used tests to exclude FHH, but overall, practice varies widely.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":"103 5","pages":"757-760"},"PeriodicalIF":2.4,"publicationDate":"2025-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cen.70008","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144774764","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}
Devika Nandakumar, Remya Rajan, Rekha Pai, Elanthenral Sigamani, Nitin Kapoor, Nihal Thomas, Thomas Paul, Felix Jebasingh, Kripa Cherian, M. J. Paul, Anish Jacob, Shawn Thomas, Supriya Sen, Marie Therese Manipadam, Anuradha Chandramohan, Ashish Singh, Julie Hephzibah, Santhosh Kumar, Prisca Santhanam, Hesarghatta Shyamasunder Asha
Background
Malignant pheochromocytoma and paraganglioma (mPPGL) are not so common and the factors predicting the metastatic behavior are not well understood.
Methods
This retrospective cohort study included 218 patients with PPGL managed at our center over a period of 11 years (2013–2024). The clinical profile and treatment outcomes of patients with mPPGL were studied and were compared with non-metastatic PPGL(non-mPPGL).
Results
Thirty-six patients had mPPGL and the median age at diagnosis of metastases was 39.5 years(range 10–62). Twenty-one(58.3%) patients had synchronous metastases and 15(41.7%) developed metachronous metastases after a median duration of 76 months(range 13–270 months) from the diagnosis of the primary tumor. Metastases were detected in 100% of patients who had 18FDG(4/4) and 68 Ga DOTATATE(4/4) PET-CT, 97.2% (35/36) with CT/MRI and 79.3%(23/29) with 131I MIBG scan. Surgery was the primary treatment in 78%, and 131I MIBG therapy was administered to 19(52.8%) patients. Eleven patients succumbed due to metastatic disease and among them nine died within a year of diagnosis of metastases, the median survival at last follow-up was 31.5 months (range 3–96). On comparing mPPGL(n = 36) and non-mPPGL(n = 182), we found that patients with mPPGL had larger tumors (8.8 ± 5.2 vs. 6.3 ± 3.3, p = 0.001), had less frequent adrenergic symptoms and more often had extra-adrenal tumors.
Conclusion
Malignant PPGLs had a variable clinical course and were amenable to multimodal therapeutic strategies with a favorable outcome in about 67% of the patients. Although mPPGL had larger tumor diameter compared to non-mPPGL, no particular size cut-off could accurately predict metastases. Adjuvant 131I MIBG therapy is a useful treatment option in resource limited settings.
背景：恶性嗜铬细胞瘤和副神经节瘤（mPPGL）并不常见，预测转移行为的因素尚不清楚。方法：这项回顾性队列研究纳入了218例在我中心治疗的PPGL患者，时间为11年（2013-2024）。研究了mPPGL患者的临床概况和治疗结果，并与非转移性PPGL（non-mPPGL）进行了比较。结果：36例患者有mPPGL，转移诊断时的中位年龄为39.5岁（范围10-62岁）。21例（58.3%）患者发生同步转移，15例（41.7%）患者在原发肿瘤诊断后的中位时间为76个月（13-270个月）后发生异时转移。18FDG（4/4）和68 Ga DOTATATE(4/4) PET-CT的转移率为100%，CT/MRI为97.2% (35/36)，131I MIBG为79.3%（23/29）。手术是78%的主要治疗方法，19例（52.8%）患者接受了131I MIBG治疗。11例患者死于转移性疾病，其中9例在诊断为转移后一年内死亡，末次随访中位生存期为31.5个月（范围3-96）。在比较mPPGL（n = 36）和非mPPGL（n = 182）时，我们发现mPPGL患者肿瘤较大（8.8±5.2 vs 6.3±3.3,p = 0.001），肾上腺素能症状较少，且更常发生肾上腺外肿瘤。结论：恶性PPGLs具有可变的临床病程，适合多种治疗策略，约67%的患者预后良好。虽然与非mPPGL相比，mPPGL的肿瘤直径更大，但没有特定的大小临界值可以准确预测转移。在资源有限的情况下，辅助MIBG治疗是一种有用的治疗选择。
{"title":"Clinical Profile, Outcomes, and Predictors of Malignant Pheochromocytoma and Paraganglioma: Insights From a Single-Center Cohort","authors":"Devika Nandakumar, Remya Rajan, Rekha Pai, Elanthenral Sigamani, Nitin Kapoor, Nihal Thomas, Thomas Paul, Felix Jebasingh, Kripa Cherian, M. J. Paul, Anish Jacob, Shawn Thomas, Supriya Sen, Marie Therese Manipadam, Anuradha Chandramohan, Ashish Singh, Julie Hephzibah, Santhosh Kumar, Prisca Santhanam, Hesarghatta Shyamasunder Asha","doi":"10.1111/cen.70007","DOIUrl":"10.1111/cen.70007","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Malignant pheochromocytoma and paraganglioma (mPPGL) are not so common and the factors predicting the metastatic behavior are not well understood.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This retrospective cohort study included 218 patients with PPGL managed at our center over a period of 11 years (2013–2024). The clinical profile and treatment outcomes of patients with mPPGL were studied and were compared with non-metastatic PPGL(non-mPPGL).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Thirty-six patients had mPPGL and the median age at diagnosis of metastases was 39.5 years(range 10–62). Twenty-one(58.3%) patients had synchronous metastases and 15(41.7%) developed metachronous metastases after a median duration of 76 months(range 13–270 months) from the diagnosis of the primary tumor. Metastases were detected in 100% of patients who had 18FDG(4/4) and 68 Ga DOTATATE(4/4) PET-CT, 97.2% (35/36) with CT/MRI and 79.3%(23/29) with 131I MIBG scan. Surgery was the primary treatment in 78%, and 131I MIBG therapy was administered to 19(52.8%) patients. Eleven patients succumbed due to metastatic disease and among them nine died within a year of diagnosis of metastases, the median survival at last follow-up was 31.5 months (range 3–96). On comparing mPPGL(<i>n</i> = 36) and non-mPPGL(<i>n</i> = 182), we found that patients with mPPGL had larger tumors (8.8 ± 5.2 vs. 6.3 ± 3.3, <i>p</i> = 0.001), had less frequent adrenergic symptoms and more often had extra-adrenal tumors.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Malignant PPGLs had a variable clinical course and were amenable to multimodal therapeutic strategies with a favorable outcome in about 67% of the patients. Although mPPGL had larger tumor diameter compared to non-mPPGL, no particular size cut-off could accurately predict metastases. Adjuvant 131I MIBG therapy is a useful treatment option in resource limited settings.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":"103 4","pages":"480-486"},"PeriodicalIF":2.4,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144741335","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}
<p>The field of pediatric endocrinology continues to evolve rapidly, driven by the interplay of advancing diagnostic technologies, personalized treatment strategies, and a deepening understanding of the genetic, molecular, and psychosocial underpinnings of endocrine disorders in children and adolescents. This special edition of the journal brings together a series of insightful articles that address some of the most pressing and complex challenges facing clinicians today, reflecting the breadth and depth of pediatric endocrine care.</p><p>The issue includes the state-of-play in the diagnosis and management challenges in Pediatric Cushing's Syndrome, a rare yet serious condition that demands nuanced pediatric-specific clinical suspicion and a multidisciplinary approach for successful intervention. The complexity of diagnosis, often masked by overlapping symptoms of obesity or stress-related cortisol elevations, underscores the importance of tailored diagnostic strategies (emphasizing the importance of assessment of growth) and surgical or medical therapies informed by the latest evidence.</p><p>Equally critical is our focus on pediatric thyroid disease, which continues to be a cornerstone of pediatric endocrine practice. From congenital hypothyroidism to autoimmune thyroiditis, the article emphasizes timely diagnosis, lifelong monitoring, and the developmental impact of thyroid dysfunction in children.</p><p>We also explore the transformative potential of enzyme replacement therapy for hypophosphatasia, a paradigm-shifting treatment that has altered the prognosis for children with this rare metabolic bone disease. The discussion bridges molecular pathophysiology and current therapeutic innovations that have redefined management goals.</p><p>In an important intersection of medicine and ethics, this edition features a compelling case study on aligning clinical management of differences of sex development (DSD)/intersex conditions with a human rights framework. This article challenges us to consider a holistic, patient-centered, and ethically grounded model of care, emphasizing informed consent, autonomy, and psychosocial support.</p><p>The issue further includes a timely update on the assessment of testicular function in boys and adolescents, a key aspect of pubertal evaluation and fertility assessment, especially in the context of chronic illnesses, cancer survivorship, and endocrinopathies. This piece outlines both traditional and novel biomarkers that enhance clinical decision-making.</p><p>From a nephro-endocrine interface, the article on pediatric perspectives in the diagnosis of polyuria-polydipsia syndrome offers essential guidance for distinguishing between central diabetes insipidus, nephrogenic causes, and primary polydipsia—an often perplexing clinical presentation, especially in children, that necessitates meticulous evaluation.</p><p>Adding a metabolic and neuroendocrine lens, the evaluation of serum adipokine levels in girls with cen
{"title":"Editorial Introduction: Advancing Pediatric Endocrinology Through Multidimensional Insights","authors":"Tony Huynh","doi":"10.1111/cen.70005","DOIUrl":"10.1111/cen.70005","url":null,"abstract":"<p>The field of pediatric endocrinology continues to evolve rapidly, driven by the interplay of advancing diagnostic technologies, personalized treatment strategies, and a deepening understanding of the genetic, molecular, and psychosocial underpinnings of endocrine disorders in children and adolescents. This special edition of the journal brings together a series of insightful articles that address some of the most pressing and complex challenges facing clinicians today, reflecting the breadth and depth of pediatric endocrine care.</p><p>The issue includes the state-of-play in the diagnosis and management challenges in Pediatric Cushing's Syndrome, a rare yet serious condition that demands nuanced pediatric-specific clinical suspicion and a multidisciplinary approach for successful intervention. The complexity of diagnosis, often masked by overlapping symptoms of obesity or stress-related cortisol elevations, underscores the importance of tailored diagnostic strategies (emphasizing the importance of assessment of growth) and surgical or medical therapies informed by the latest evidence.</p><p>Equally critical is our focus on pediatric thyroid disease, which continues to be a cornerstone of pediatric endocrine practice. From congenital hypothyroidism to autoimmune thyroiditis, the article emphasizes timely diagnosis, lifelong monitoring, and the developmental impact of thyroid dysfunction in children.</p><p>We also explore the transformative potential of enzyme replacement therapy for hypophosphatasia, a paradigm-shifting treatment that has altered the prognosis for children with this rare metabolic bone disease. The discussion bridges molecular pathophysiology and current therapeutic innovations that have redefined management goals.</p><p>In an important intersection of medicine and ethics, this edition features a compelling case study on aligning clinical management of differences of sex development (DSD)/intersex conditions with a human rights framework. This article challenges us to consider a holistic, patient-centered, and ethically grounded model of care, emphasizing informed consent, autonomy, and psychosocial support.</p><p>The issue further includes a timely update on the assessment of testicular function in boys and adolescents, a key aspect of pubertal evaluation and fertility assessment, especially in the context of chronic illnesses, cancer survivorship, and endocrinopathies. This piece outlines both traditional and novel biomarkers that enhance clinical decision-making.</p><p>From a nephro-endocrine interface, the article on pediatric perspectives in the diagnosis of polyuria-polydipsia syndrome offers essential guidance for distinguishing between central diabetes insipidus, nephrogenic causes, and primary polydipsia—an often perplexing clinical presentation, especially in children, that necessitates meticulous evaluation.</p><p>Adding a metabolic and neuroendocrine lens, the evaluation of serum adipokine levels in girls with cen","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":"103 4","pages":"427-428"},"PeriodicalIF":2.4,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cen.70005","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144689087","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}
Ian L. Ross, Sofia Llahana, Michelle M. Anderson, Belene Demeke, Elouise M. Minnie, John A. H. Wass, Michelle Henry
Objective
Adrenal crisis is a potentially fatal complication of primary adrenal insufficiency (PAI) and the leading cause of death in this population. Knowledge and its application are crucial to prevention. This study aimed to assess knowledge of glucocorticoid stress dosing and adrenal crisis prevention among individuals with PAI in South Africa (SA) and the United Kingdom (UK).
Design
Cross-sectional study comprising a researcher-administered telephone survey in SA and an online questionnaire in the UK.
Patients
A total of 286 individuals with PAI on glucocorticoid replacement therapy: 47 from SA and 239 from the UK.
Measurements
The survey included questions on knowledge of glucocorticoid adjustment during intercurrent illness or stress, vulnerability (SA cohort only), and factors precipitating adrenal crises (UK cohort only).
Results
Knowledge levels were suboptimal across both cohorts, with 72% answering correctly for infection, 54% vomiting, 52% fever, and 40% emotional stress. The UK cohort demonstrated significantly better knowledge (mean 49% correct, SD = 24.7) than the SA cohort (mean 34%, SD = 30.7; p < 0.001). Nearly a third of participants reported at least one adrenal crisis in the past year. Prior adrenal crisis experience correlated with higher knowledge scores (p = 0.049). Vulnerability scores correlated positively with adrenal crisis frequency in the SA cohort (r = 0.382; p = 0.008).
Conclusions
This is the first study to compare knowledge of adrenal crisis prevention in individuals with PAI across two countries with distinct healthcare services, highlighting significant knowledge gaps in both cohorts, particularly in the SA cohort. Targeted education and support group engagement are needed to address knowledge gaps and reduce adrenal crisis incidence.
{"title":"Identifying Knowledge Gaps in Individuals With Primary Adrenal Insufficiency: A Critical Step in Preventing Adrenal Crisis","authors":"Ian L. Ross, Sofia Llahana, Michelle M. Anderson, Belene Demeke, Elouise M. Minnie, John A. H. Wass, Michelle Henry","doi":"10.1111/cen.70006","DOIUrl":"10.1111/cen.70006","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Adrenal crisis is a potentially fatal complication of primary adrenal insufficiency (PAI) and the leading cause of death in this population. Knowledge and its application are crucial to prevention. This study aimed to assess knowledge of glucocorticoid stress dosing and adrenal crisis prevention among individuals with PAI in South Africa (SA) and the United Kingdom (UK).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Design</h3>\u0000 \u0000 <p>Cross-sectional study comprising a researcher-administered telephone survey in SA and an online questionnaire in the UK.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Patients</h3>\u0000 \u0000 <p>A total of 286 individuals with PAI on glucocorticoid replacement therapy: 47 from SA and 239 from the UK.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Measurements</h3>\u0000 \u0000 <p>The survey included questions on knowledge of glucocorticoid adjustment during intercurrent illness or stress, vulnerability (SA cohort only), and factors precipitating adrenal crises (UK cohort only).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Knowledge levels were suboptimal across both cohorts, with 72% answering correctly for infection, 54% vomiting, 52% fever, and 40% emotional stress. The UK cohort demonstrated significantly better knowledge (mean 49% correct, SD = 24.7) than the SA cohort (mean 34%, SD = 30.7; <i>p</i> < 0.001). Nearly a third of participants reported at least one adrenal crisis in the past year. Prior adrenal crisis experience correlated with higher knowledge scores (<i>p</i> = 0.049). Vulnerability scores correlated positively with adrenal crisis frequency in the SA cohort (<i>r</i> = 0.382; <i>p</i> = 0.008).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This is the first study to compare knowledge of adrenal crisis prevention in individuals with PAI across two countries with distinct healthcare services, highlighting significant knowledge gaps in both cohorts, particularly in the SA cohort. Targeted education and support group engagement are needed to address knowledge gaps and reduce adrenal crisis incidence.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":"103 5","pages":"659-668"},"PeriodicalIF":2.4,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cen.70006","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144689088","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}
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