Clinical Endocrinology最新文献

{"title":"Urinary Calcium Measurement in Patients With Hypercalcaemia; Endocrine Physicians and Surgeons Survey Results From UK","authors":"Muhammad Fahad Arshad,&nbsp;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 &gt; 0.01 to rule out FHH, while &gt; 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}

{"title":"Clinical Profile, Outcomes, and Predictors of Malignant Pheochromocytoma and Paraganglioma: Insights From a Single-Center Cohort","authors":"Devika Nandakumar,&nbsp;Remya Rajan,&nbsp;Rekha Pai,&nbsp;Elanthenral Sigamani,&nbsp;Nitin Kapoor,&nbsp;Nihal Thomas,&nbsp;Thomas Paul,&nbsp;Felix Jebasingh,&nbsp;Kripa Cherian,&nbsp;M. J. Paul,&nbsp;Anish Jacob,&nbsp;Shawn Thomas,&nbsp;Supriya Sen,&nbsp;Marie Therese Manipadam,&nbsp;Anuradha Chandramohan,&nbsp;Ashish Singh,&nbsp;Julie Hephzibah,&nbsp;Santhosh Kumar,&nbsp;Prisca Santhanam,&nbsp;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}

{"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":"&lt;p&gt;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.&lt;/p&gt;&lt;p&gt;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.&lt;/p&gt;&lt;p&gt;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.&lt;/p&gt;&lt;p&gt;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.&lt;/p&gt;&lt;p&gt;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.&lt;/p&gt;&lt;p&gt;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.&lt;/p&gt;&lt;p&gt;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.&lt;/p&gt;&lt;p&gt;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}

{"title":"Identifying Knowledge Gaps in Individuals With Primary Adrenal Insufficiency: A Critical Step in Preventing Adrenal Crisis","authors":"Ian L. Ross,&nbsp;Sofia Llahana,&nbsp;Michelle M. Anderson,&nbsp;Belene Demeke,&nbsp;Elouise M. Minnie,&nbsp;John A. H. Wass,&nbsp;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> &lt; 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}

{"title":"Longitudinal Changes in Bone Mineral Density and Trabecular Bone Score in Adolescents With Graves' Disease","authors":"Pattara Wiromrat,&nbsp;Nantaporn Wongsurawat,&nbsp;Ratikorn Chaisiwamongkol,&nbsp;Yutapong Raruenrom,&nbsp;Piyanan Suparattanagool,&nbsp;Ouyporn Panamonta,&nbsp;Chatlert Pongchaiyakul","doi":"10.1111/cen.70004","DOIUrl":"10.1111/cen.70004","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Longitudinal data on bone health in adolescents with Graves' disease (GD) are limited. Thus, we aimed to evaluate lumbar spine bone mineral density (LSBMD) and trabecular bone score (TBS) changes in this population.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Baseline and follow-up LSBMD <i>Z</i>-score (LSBMD_Z) and TBS <i>Z</i>-score (TBS_Z) were measured. TBS was analysed using iNsight software.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Forty-one adolescents with GD (age 13.7 ± 2.8 years, 73% female) were enroled. At baseline, 18% of adolescents with recently diagnosed GD (RGD, ≤ 6 months) had low LSBMD (median LSBMD_Z: −0.7 [−1.5 to −0.4]), and 58% had low TBS (mean TBS_Z: −1.5 ± 1.3). The median follow-up duration was 2.2 (1.2–2.9) years. In the entire cohort, at follow-up, LSBMD_Z normalized, whereas TBS_Z remained below zero (<i>p</i> = 0.007). Adolescents with RGD and those with longer disease duration had comparable LSBMD_Z and TBS_Z at follow-up. When stratified by baseline disease duration tertiles, improvements in LSBMD_Z (<i>p</i> = 0.013) and TBS_Z (<i>p</i> = 0.035) progressively declined with increasing disease duration. LSBMD_Z was significantly increased from baseline during 28 months of treatment (<i>p</i> = 0.01), while TBS_Z improvement was observed during the initial 9 months (<i>p</i> = 0.046). Stepwise regression identified time-weighted free thyroxine (FT4) as a negative predictor of ∆TBS_Z (<i>p</i> = 0.042).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Low TBS was prevalent among adolescents recently diagnosed with GD. Despite observed improvements, TBS_Z remained below zero at follow-up, indicating incomplete recovery. As FT4 negatively impacts TBS improvement, maintaining optimal FT4 concentrations early in the disease is crucial for preserving bone microarchitecture in paediatric GD.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":"103 4","pages":"619-626"},"PeriodicalIF":2.4,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144682061","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":"Development of a Minimum Dataset for the Global Monitoring of the Safety and Efficacy of Growth Hormone Replacement in Adults With Growth Hormone Deficiency (AGHD).","authors":"Suet Ching Chen, Angela K Lucas-Herald, Ruoning Tang, Xanthippi Tseretopoulou, Malika Alimussina, Deno Andrews, Beverly M K Biller, Cesar L Boguszewski, Jillian Bryce, Minglu Chen, Peter E Clayton, Maria Fleseriu, Judith Gebauer, Ken K Y Ho, Jens Otto L Jorgensen, Xiaoping Luo, Bradley S Miller, Sebastian Jcmm Neggers, Lars Sävendahl, Katharina Schilbach, Christian J Strasburger, Yutaka Takahashi, Diana Vitali, Kevin C J Yuen, Andrew R Hoffman, Gudmundur Johannson, S Faisal Ahmed","doi":"10.1111/cen.15298","DOIUrl":"https://doi.org/10.1111/cen.15298","url":null,"abstract":"<p><strong>Objective: </strong>To identify the minimum dataset (MDS) for the monitoring of safety and effectiveness of GH in adults with growth hormone deficiency (AGHD).</p><p><strong>Design: </strong>Systematic review and expert consensus.</p><p><strong>Methods: </strong>Outcomes for AGHD were identified through a systematic literature search in PubMed, Science Direct and Cochrane. In addition, 17 clinical experts from 10 countries and two patient representatives assembled through the Global Registry for Novel Therapies in Rare Bone and Endocrine Conditions (GloBE-Reg) provided data items that ideally should be collected routinely. These items were subsequently graded independently by participants on: (1) importance of the data field and (2) ease of data collection in routine clinical practice.</p><p><strong>Results: </strong>The systematic review identified 35 studies with 6732 participants with AGHD with a median age of 49 (range, 22-82) years. The common outcome categories included were cardiovascular in 21 (60%) studies, serum IGF-I in 13 (37%) and IGF-I SDS in 8 (23%), adiposity measures in 15 (44%) and psychosocial outcomes in 10 (29%). A total of 190 items were provided by experts and 86 (45%) achieved sufficient consensus and alignment with reported outcomes to create a final MDS with 45 items to be assessed, of which only 43 are manually entered.</p><p><strong>Conclusions: </strong>This study has identified by consensus a minimum dataset considered necessary to provide consistency and comparability in global studies of AGHD.</p>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144682060","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":"Potential Impact of Parental Origin of Inheritance on the Clinical Presentation of Familial Partial Lipodystrophy Type 2 Syndrome","authors":"Donatella Gilio,&nbsp;Ozge Besci,&nbsp;Natália Rossin Guidorizzi,&nbsp;Merve Celik Guler,&nbsp;Ilgin Yildirim Simsir,&nbsp;Caterina Pelosini,&nbsp;Giovanni Ceccarini,&nbsp;Korcan Demir,&nbsp;Baris Akinci,&nbsp;Ferruccio Santini,&nbsp;ECLip (European Consortium of Lipodystrophy),&nbsp;Maria Cristina Foss-Freitas,&nbsp;Elif A. Oral","doi":"10.1111/cen.15303","DOIUrl":"10.1111/cen.15303","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Context</h3>\u0000 \u0000 <p>Familial partial lipodystrophy type 2 (FPLD2) is a rare autosomal dominant disorder caused by pathogenic variants in the <i>LMNA</i> gene. The influence of parental inheritance on clinical presentation has not been fully explored.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To investigate the influence of maternal versus paternal inheritance of <i>LMNA</i> variants on the clinical and metabolic phenotype of patients with FPLD2.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Design, Patients, Measurements</h3>\u0000 \u0000 <p>This retrospective cohort study included 83 patients with FPLD2 from four different centres. Clinical, biochemical, and body composition data were analysed. Patients were grouped based on maternal (maternal inheritance group; <i>n</i> = 49) or paternal (paternal inheritance group; <i>n</i> = 34) inheritance of <i>LMNA</i> variants. Statistical comparisons were made between the groups.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Patients in the maternal inheritance group had a younger current age (35 (33) vs. 48 (22) years, <i>p</i> = 0.042) and earlier diagnosis of lipodystrophy (22 (30) vs. 36 (25) years, <i>p</i> = 0.044) compared to those in the paternal inheritance group. Body fat percentages in the arms (23.8 (6.5) % vs. 21.0 (6.2) %, <i>p</i> = 0.034) and trunk (32.1 (10.3) % vs. 28.5 (6.1) %, <i>p</i> = 0.024) were higher in maternal inheritance group. Fatty liver disease (79% vs. 57%, <i>p</i> = 0.029) and pancreatitis (26% vs. 8%, <i>p</i> = 0.033) were more prevalent in paternal inheritance group.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Parental lineage may influence the phenotype of FPLD2: patients with a maternally inherited <i>LMNA</i> variant tend to preserve more adipose tissue in the upper body, while those with a paternally inherited variant experience greater adipose tissue loss in that region, often associated with more severe metabolic complications. These findings highlight the importance of contemplating parental lineage as a relevant factor when evaluating the clinical presentation and management of patients with FPLD2.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":"103 4","pages":"504-512"},"PeriodicalIF":2.4,"publicationDate":"2025-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cen.15303","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144648739","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":"Testicular Function After Immune-Checkpoint Inhibitors Treatment","authors":"Andrea Boutros,&nbsp;Amanda Idan,&nbsp;Sue Sleiman,&nbsp;Feyrous Bacha,&nbsp;Ting Zhang,&nbsp;Veena Jayadev,&nbsp;Alexander M. Menzies,&nbsp;Georgina V. Long,&nbsp;David J. Handelsman","doi":"10.1111/cen.70001","DOIUrl":"10.1111/cen.70001","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To investigate the effects of immune-checkpoint inhibitors (ICIs) on spermatogenesis and testicular endocrine function in reproductive-age men with melanoma.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Design</h3>\u0000 \u0000 <p>Prospective, mixed longitudinal and cross-sectional cohort study.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Patients</h3>\u0000 \u0000 <p>Twenty-nine men aged 19–46 years undergoing ICI therapy for melanoma at two Australian centres between 2019 and 2024. Three patients were excluded due to subsequent gonadotoxic therapies. The remaining 26 were evaluable.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Measurements</h3>\u0000 \u0000 <p>Semen analysis and serum hormone levels (FSH, LH, testosterone) were assessed at baseline and after ICI exposure. Patients with prior cytotoxic chemotherapy or pelvic radiotherapy were excluded.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Among 26 evaluable patients, one man developed persistent azoospermia with marked serum FSH elevation. Overall, median total sperm output per ejaculate declined by 34% (193–127 million per ejaculate) and sperm concentration by 30% (61–43 million/mL), neither statistically significant before or after excluding the case of presumed autoimmune orchitis. On treatment, serum LH and testosterone remained stable while the increase in serum FSH (<i>p</i> = 0.04) was no longer significant after excluding the single man with auto-immune orchitis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>ICI treatment may be associated with minimal spermatogenic dysfunction, as reflected by modest reductions in sperm output and increased serum FSH levels, despite preserved serum LH and testosterone concentrations, but mostly due to a rare (4% prevalence) case of autoimmune orchitis. The unpredictability of these effects supports routine fertility preservation counselling in young men before ICI initiation.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":"103 5","pages":"721-728"},"PeriodicalIF":2.4,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cen.70001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144625460","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":"Differences in Clinical Presentation Between Pheochromocytomas and Paragangliomas","authors":"Vincent E. D. Pihlblad,&nbsp;Jan Calissendorff,&nbsp;Henrik Falhammar","doi":"10.1111/cen.70002","DOIUrl":"10.1111/cen.70002","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>Pheochromocytomas and sympathetic paragangliomas (PPGLs) are similar in most aspects. However, they differ in genetic etiology, hormonal secretion, and associated neoplasms. This study aimed to investigate differences in clinical presentation between PPGLs.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Design</h3>\u0000 \u0000 <p>This study employs a retrospective cohort design.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Patients</h3>\u0000 \u0000 <p>The cohort consists of 201 patients with PPGLs, including 196 with data on symptoms, treated at a major tertiary centre between 2005 and 2024.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Measurements</h3>\u0000 \u0000 <p>Data on age at diagnosis, sex, tumour size, metastases, genetic profiles, mode of discovery, pathology, biochemistry, symptoms, co-morbidities and blood pressure were collected from patients' medical records and compared between patients with pheochromocytomas and paragangliomas.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Women were less prevalent in the pheochromocytoma group compared to the paraganglioma group (51.5% vs. 71.1%, <i>p</i> = 0.03). Pheochromocytomas produced more epinephrine (<i>p</i> &lt; 0.001), though 25.0% of paragangliomas were also producing increased epinephrine concentrations. Most symptoms were similar between groups, but pheochromocytomas were associated with higher prevalence of palpitations (48% vs. 29%, <i>p</i> = 0.04) and anxiety (37% vs. 17%, <i>p</i> = 0.03) than paragangliomas. The pheochromocytoma group reported more symptoms (3 vs. 2, <i>p</i> = 0.01). Pre-diabetes/diabetes was more prevalent in patients with pheochromocytoma (45% vs. 24%, <i>p</i> = 0.02). The classic triad (palpitations, sweating, headaches) occurred in 12% of all patients, and hypertension in 82% of all patients, both being similar in prevalence between the PCC and PGL groups.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Pheochromocytomas and paragangliomas exhibit some notable differences in symptoms and hormone profiles but generally share many features. These distinctions are, however, insufficient for clinicians to differentiate the two tumours based solely on clinical presentation or biochemical data.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":"103 5","pages":"651-658"},"PeriodicalIF":2.4,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cen.70002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144607700","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":"Age-Independent Serum AMH Levels in Women With PCOS Defined by the 2018 Evidence-Based Guideline Diagnostic Criteria: A Cross-Sectional Study","authors":"Young Min Choi,&nbsp;Kyu Ri Hwang,&nbsp;Dayong Lee,&nbsp;Sunmie Kim,&nbsp;Jin Ju Kim","doi":"10.1111/cen.70000","DOIUrl":"10.1111/cen.70000","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The 2018 evidence-based guideline revised the follicle count threshold for polycystic ovary morphology (PCOM) from ≥ 12 to ≥ 20, thereby introducing a stricter definition than the Rotterdam criteria. In 2023, anti-Müllerian hormone (AMH) was incorporated into defining PCOM. Although PCOS-related symptoms often improve with age, some women continue to exhibit symptoms and meet the PCOS diagnostic criteria even as they age. This study examined AMH patterns across age groups in women who already met the PCOS diagnostic criteria according to either the Rotterdam or the stricter 2018 criteria.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This cross-sectional study included 725 women diagnosed with PCOS according to the Rotterdam criteria, of whom 520 also fulfilled the 2018 criteria. Serum AMH levels were compared across age groups: &lt; 25, 25–34.9, and 35–45 years.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Among women meeting the Rotterdam criteria, AMH levels were significantly lower in the oldest group (9.0 ng/mL) than in those &lt; 25 years (11.2 ng/mL, <i>p</i> = 0.032). Meanwhile, among women who met the 2018 criteria, mean AMH levels were 12.5, 12.0, and 10.0 ng/mL in &lt; 25, 25–34.9, and 35–45 year groups, respectively (<i>p</i> = 0.077), with no correlation between age and AMH (<i>r</i> = −0.050, <i>p</i> = 0.178). Additionally, the oldest group showed worse metabolic profiles than the younger groups.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Women who continued to meet the stricter criteria at older reproductive ages showed AMH levels comparable to those of younger patients, and had worse metabolic profiles, supporting AMH as a stable diagnostic marker across reproductive ages in PCOS.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":"103 4","pages":"580-586"},"PeriodicalIF":2.4,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cen.70000","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144590518","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}