Clinical Endocrinology最新文献

{"title":"Prevalence and Incidence of Dementia in Patients With Non-Overtly Functional Adrenal Tumours.","authors":"Hadis Mirzaei, Jekaterina Patrova, Buster Mannheimer, Jonatan D Lindh, Henrik Falhammar","doi":"10.1111/cen.15186","DOIUrl":"https://doi.org/10.1111/cen.15186","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the prevalence and incidence of dementia in patients with non-overtly functional adrenal tumours (NOFATs).</p><p><strong>Design: </strong>A national retrospective register-based study was conducted on patients diagnosed with NOFAT and controls diagnosed between 2005 and 2019, in Sweden. Individuals diagnosed with overt adrenal hormone excess or previous malignancies were excluded. Sensitivity analyses were performed in subgroups with a combination of gallbladder/biliary tract/pancreatic disease. and acute appendicitis, as well as 3- and 12-months of malignancy-free survival.</p><p><strong>Measurements: </strong>Prevalence and incidence of dementia. The secondary outcomes were Alzheimer's disease and vascular dementia.</p><p><strong>Results: </strong>Among 20,390 cases, 12,120 (59.4%) were women, and the median (IQR) age was 66 (57-73) years. Among the 125,392 controls, 69,994 (55.8%) were women and the median (IQR) age was 66 (57-73) years. Patients with NOFATs had a lower prevalence of dementia compared to controls (odds ratio [OR] 0.58, 95% CI 0.50-0.68, adjusted OR [aOR] 0.47, 95% CI 0.40-0.56). During the follow-up period (median 4.9 years, IQR 2.2-8.2), incidence of dementia was similar in NOFATs and controls (hazard ratio [HR] 1.05, 95% CI 0.97-1.15, adjusted HR [aHR] 1.06, 95% CI 0.97-1.15). Similar results obtained for Alzheimer's dementia (aOR 0.44, 95% CI 0.34-0.57; aHR 0.94, 95% CI 0.80-1.10) and vascular dementia (OR 0.71, 95% CI 0.52-0.94, aOR 0.48, 95% CI 0.35-0.64; HR 1.29, 95% CI 1.08-1.53, aHR 1.13, 95% CI 0.95-1.35) as well as in the sensitivity analyses. Adrenalectomy did not change the results.</p><p><strong>Conclusion: </strong>NOFAT was not associated with an increased risk of dementia.</p>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-12-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142892090","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":"Pheochromocytoma in von Hippel-Lindau Disease: Clinical Features and Comparison With Sporadic Pheochromocytoma","authors":"Tianyi Li,&nbsp;Yunying Cui,&nbsp;Yue Zhou,&nbsp;Ting Zhou,&nbsp;Shi Chen,&nbsp;Lin Lu,&nbsp;Yushi Zhang,&nbsp;Anli Tong","doi":"10.1111/cen.15190","DOIUrl":"10.1111/cen.15190","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>Pheochromocytomas and paragangliomas (PPGLs) are manifestations of von Hippel-Lindau (VHL) disease. This study aims to describe the clinical features of PPGLs in VHL patients and the distinctions between VHL disease-related PPGLs and sporadic PPGLs.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Design, Patients and Measurements</h3>\u0000 \u0000 <p>The study included all patients with VHL disease and PPGLs treated in a single centre from 2007 to 2023. A total of 145 patients were included in the sporadic PPGLs group. Their clinical data were retrospectively reviewed. Genetic testing for <i>VHL</i> mutation was conducted using Sanger sequencing. Statistical analysis was performed using SPSS 22.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Fifty-nine (65.6%) of the 90 VHL disease patients had PPGLs (male: female, 38:21; age at diagnosis, 25.0 ± 13.3 years). 42 (71.2%) patients had lesions only in the adrenal gland, and 16 (27.1%) patients had lesions both in and out of the adrenal gland. 45 (76.3%) patients had multiple lesions. Eighteen (45.0%) patients developed recurrence after surgery. Fifty-eight patients with PPGLs underwent genetic testing and had pathogenic or likely pathogenic mutations in the <i>VHL</i> gene. Fifty-three (91.4%) patients had missense mutations, 34 of which were located in the Elongin-C binding domain. The hotspot mutation sites were codon 161 and codon 167. Five novel mutations were identified. The clinical characteristics showed no significant differences between groups with different mutation sites. Compared to sporadic PPGLs, VHL disease-related PPGLs were more frequently located in the adrenal gland (71.2% vs. 49.0%, <i>p</i> &lt; 0.001), had a higher prevalence of multiple lesions (76.3% vs. 11.0%, <i>p</i> &lt; 0.001), and secreted noradrenaline (80.4% vs. 43.2%, <i>p</i> &lt; 0.001). They were also more likely to relapse after surgery (45.0% vs. 15.3%, <i>p</i> &lt; 0.001).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>VHL disease-related PPGLs were often multifocal and noradrenergic, and more likely to relapse compared with sporadic PPGLs. No relationships were identified between the mutation sites and the clinical characteristics of PPGLs.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":"102 3","pages":"355-361"},"PeriodicalIF":3.0,"publicationDate":"2024-12-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142892709","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":"Polycystic Ovary Syndrome in the Context of Pituitary Adenomas: Prevalence, Pathophysiology and Clinical Management.","authors":"Esmeralda Cela, Dario De Alcubierre, Emilia Sbardella","doi":"10.1111/cen.15182","DOIUrl":"https://doi.org/10.1111/cen.15182","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Objective: &lt;/strong&gt;Many review articles have explored data regarding the coexistence of specific types of pituitary adenomas (PAs) and polycystic ovary syndrome (PCOS), particularly focusing on the potential pathogenesis of this intersection and overlapping features. However, a comprehensive evaluation encompassing the full spectrum of PAs and their association with PCOS remains lacking. This review aims to provide a broad assessment of the interactions between these entities, emphasizing pathophysiological mechanisms, clinical presentations, diagnostic challenges and therapeutic implications.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;A comprehensive literature search was conducted in the PubMed/MEDLINE database, focusing primarily on publications from the years 2000 to 2024, while also including seminal papers from the 1950s. The reference lists of selected articles were also manually searched. Inclusion criteria encompassed review articles, retrospective studies, clinical trials, case reports and meta-analyses providing data on the pathogenesis, clinical features, diagnostic challenges and therapeutic approaches related to PCOS and different PAs.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;PCOS and functioning PAs often exhibit overlapping clinical features, complicating diagnosis and management. PCOS may precede and delay the diagnosis of growth hormone (GH)-secreting adenomas. The prevalence of PCOS or its features in acromegaly is influenced by disease activity, while approximating 13% in cases with controlled disease. Excess GH and insulin-like growth factor 1 (IGF-1) adversely affect ovarian function through direct pathways and by inducing insulin resistance, contributing to acromegaly-associated PCOS. In Cushing's syndrome (CS), findings consistent with PCOS may be present in 46% of patients, with cortisol excess contributing to menstrual dysfunction, hyperandrogenism and insulin resistance. While the prevalence of PCOS in patients with prolactinomas remains under-researched, recent studies indicate a 2.8%-10% prevalence of prolactinomas in PCOS. Elevated prolactin (PRL) levels in these patients may promote insulin resistance, further contributing to PCOS pathogenesis. Moreover, increased androgen bioavailability may be observed in all three aforementioned adenomas. To date, no studies have provided prevalence data for PCOS in other types of PAs.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;Distinct clinical features, along with biochemical evaluations and imaging, can help differentiate the presence of both PAs and PCOS. Moreover, excluding other mimicking disorders is essential for an accurate diagnosis of PCOS. The persistence or recurrence of menstrual dysfunction, hyperandrogenism and metabolic disturbances in patients with controlled functioning adenomas may indicate a coexisting PCOS diagnosis. Timely diagnosis may optimize management and improve long-term outcomes for both conditions. Future studies should focus on investigating the clinical differe","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142881310","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":"How Does Thyroid Hormone Profile Differ on and Off Replacement Treatment?","authors":"Adrian H Heald, Lakdasa D Premawardhana, Peter N Taylor, Adam Baker, Nadia Chaudhury, Anthony A Fryer, Onyebuchi E Okosieme, Colin M Dayan, Mike Stedman","doi":"10.1111/cen.15185","DOIUrl":"https://doi.org/10.1111/cen.15185","url":null,"abstract":"<p><strong>Introduction: </strong>There continues to be much discussion around optimisation of thyroid hormone status in hypothyroid individuals. We here looked the way that free T4(FT4) and thyroid-stimulating hormone (TSH) related to each other in a large laboratory sample of people who underwent a thyroid function test (TFT), split between those on levothyroxine replacement (monitoring test) and those who underwent a test to check for thyroid hormone imbalance (diagnostic test; not on levothyroxine).</p><p><strong>Methods: </strong>TFT test (FT4/TSH) results were extracted from the Salford Royal Hospital Laboratory Information Management System during 2009-2012. This was a single site study. Requests includes a tick box for 'on levothyroxine' (yes or no). To minimise comorbidity effects, only samples taken in General Practices were used. For untreated patients only those who had single tests results were used; for treated patients, the median value across all their results was used. Cluster analysis considered an ellipse with centre on median values for log (TSH) and FT4 and the vertex based on 5% and 95% percentile values of both. The percentage of patients falling outside the ellipse boundary was considered for both treated and untreated populations.</p><p><strong>Results: </strong>The total data set included 290,000 tests on 130,000 individuals. After filtering, FT4/TSH results were used from 12,006 (F 9231/M 2775; age < 60 5850/age ≥ 60 6567) treated patients with 43,846 test results. These were compared to the single results for 43,394 untreated patients (F 24,386/M19,008; age < 60 32,537/age ≥ 60 10,857). Cluster analysis showed for untreated patients, median values for TSH and FT4 were 1.8 mU/L and 15.5 pmol/L, respectively, with 24% of patient results falling outside the untreated 5%/95% percentiles. For treated patients, the median TSH was 2.3 mU/L (+30% vs. untreated) and FT4 was 18.9 pmol/L (+22% vs. untreated), with 22% of treated patients falling outside the treated 5%/95% percentiles. When considered against the untreated limits, 68% of treated results fell outside (split male 63%, female 70% and age < 60 67%, Age ≥ 60 64%).</p><p><strong>Conclusion: </strong>The current treatment regimens of either low or high dose levothyroxine are not delivering the expected laboratory TFT profiles, with significant numbers of treated patients being well outside the expected values: both TSH and FT4 being significantly higher. This effect appears to be more prevalent in women than men.</p>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142863547","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":"PEG Precipitation to Detect Macro-TSH in Clinical Practice: A Systematic Review","authors":"Tommaso Piticchio,&nbsp;Isabella Chiardi,&nbsp;Andrea Tumminia,&nbsp;Francesco Frasca,&nbsp;Mario Rotondi,&nbsp;Pierpaolo Trimboli","doi":"10.1111/cen.15179","DOIUrl":"10.1111/cen.15179","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 <p>Macro-thyroid-stimulating hormone (macro-TSH) is a complex formed by monomeric TSH with anti-TSH antibodies, causing falsely elevated TSH levels and potential misdiagnosis of hypothyroidism. Identification of macro-TSH is essential for proper treatment and patient follow-up. Its diagnostic gold standard is gel filtration chromatography (GFC), which is very expensive, time-consuming, and rarely available. Polyethylene glycol (PEG) precipitation is more accessible and inexpensive. The aim of the study was to review evidence on PEG precipitation for the detection of macro-TSH to standardize its application in clinical practice.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>According to PRISMA guidelines, we conducted up to August 2024 a comprehensive search of PubMed and Scopus databases, using terms related to macro-TSH and PEG precipitation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We included 23 studies with 4476 subjects, encompassing 10 observational studies and 13 case series/reports. All studies showed a low risk of bias. They were conducted in tertiary centres and included newborns to elderly subjects. The most of evidence about the procedure has been achieved with PEG concentrations of 12.5%. The PEG-precipitable TSH of the macro-TSH cases was always higher than 75% ranging on average from 81% to 90%. No-macro-TSH cases (controls) showed a PEG-precipitable TSH percentage ranging from 44.1% to 61.8%.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>PEG precipitation can be taken into account as a useful diagnostic tool for macro-TSH. However, it is necessary to perform PEG precipitation in cases with a highly suspicious clinical picture and at the same time perform all available ancillary tests. PEG-precipitable TSH &gt; 75% can be considered a reliable diagnostic threshold for macro-TSH cases.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":"102 3","pages":"235-244"},"PeriodicalIF":3.0,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cen.15179","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142863548","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":"Long-Term Cardiovascular Complications in Patients With Pheochromocytomas and Paragangliomas After Surgery: A Large Multi-Center Study","authors":"Nan Guo,&nbsp;Tao Liu,&nbsp;Ping Zhao,&nbsp;Song Bai","doi":"10.1111/cen.15181","DOIUrl":"10.1111/cen.15181","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The effects of pheochromocytomas and paragangliomas (PPGLs)-induced catecholamine overproduction on vascular and cardiac function are generally thought to be reversible after PPGLs removal. However, a sizable proportion of patients who were free of the recurrent disease still faced high risks of cardiovascular problems after successful surgery. We aim to identify incidence and risk factors for long-term cardiovascular complications in PPGLs patients after surgery.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Design</h3>\u0000 \u0000 <p>We retrospectively reviewed 602 patients who underwent surgery for sporadic PPGLs at three centers between January 2012 and October 2022. Demographic characteristics and perioperative data were recorded. Multiple logistic regression was used to determine the risk factors for postoperative long-term cardiovascular complications.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Finally, a total of 602 patients were included in the analysis, comprising 460 (76.4%) patients with pheochromocytomas and 142 (23.6%) patients with paragangliomas. After a median follow-up of 64 months, 76 (12.6%) patients had developed long-term cardiovascular complications. Independent risk factors included pheochromocytomas (odds ratio [OR] = 4.13, 95% confidence interval [CI]: 1.425–11.965, <i>p</i> = 0.009), had low preoperative left ventricular ejection fraction (LVEF, OR = 5.659, 95% CI: 2.141–14.955, <i>p</i> &lt; 0.001), experienced intraoperative hemodynamic instability (HDI, OR = 2.498, 95% CI: 1.423–4.385, <i>p</i> = 0.001), suffered from postoperative in-hospital cardiovascular complications (OR = 5.723, 95% CI: 2.078–15.758, <i>p</i> = 0.001) and long-term persistent hypertension (OR = 3.552, 95% CI: 1.580–7.988, <i>p</i> = 0.002).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Long-term cardiovascular complications commonly occur in patients with surgical-cured PPGLs. Pheochromocytomas, had low preoperative LVEF, experienced intraoperative HDI, suffered from postoperative in-hospital cardiovascular complications, and persistent hypertension were determined as the risk factors for long-term cardiovascular complications. These findings may help to improve follow-up management.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":"102 3","pages":"273-280"},"PeriodicalIF":3.0,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142853078","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":"Epidemiology and Management of Moderate to Severe Thyroid Eye Disease in the United States: Analysis of a Healthcare Claims Database.","authors":"Marius N Stan, Lilly H Wagner, Kharisa N Rachmasari, Brett Venker, Joel Arackal, Jingyu Wang, Lesley-Ann Miller-Wilson, Jennifer Schwinn, Paola Mina-Osorio","doi":"10.1111/cen.15183","DOIUrl":"https://doi.org/10.1111/cen.15183","url":null,"abstract":"<p><strong>Objective: </strong>To estimate the incidence, prevalence, patient characteristics and healthcare utilization patterns of moderate to severe thyroid eye disease (TED) in the United States.</p><p><strong>Design: </strong>Retrospective review of medical and prescription claims data from the Inovalon deidentified claims database.</p><p><strong>Patients: </strong>Patients with moderate to severe TED were identified based on specific and sensitive definitions using International Classification of Diseases (ICD) codes selected by a group of TED specialists.</p><p><strong>Results: </strong>The incident moderate to severe TED population included 3364 and 1730 patients using the sensitive and specific definitions, respectively. After adjusting for age and gender, corresponding incidence rates in the sensitive and specific populations were 8.97 (13.49 in women and 4.27 in men) and 4.37 (6.59 in women and 2.05 in men) per 100,000 person-years, respectively. The prevalent population included 16,310 and 8018 patients using the sensitive and specific definitions, respectively, corresponding to adjusted prevalence rates of 44.13 (66.00 in women and 21.39 in men) and 20.55 (31.18 in women and 9.50 in men) per 100,000 persons. A preponderance of women was observed, and comorbidity rates were high, with > 40% of prevalent patients experiencing hypertension. Steroids were the most frequently prescribed medication. The impact of teprotumumab was not captured, since this study only included claims data through 2019.</p><p><strong>Conclusions: </strong>The estimated incidence and prevalence rates of TED demonstrate the considerable impact of this disease in the United States, making the creation of a specific ICD code imperative for effective healthcare planning and management.</p>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142845778","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":"Reference Ranges and Determinants of Thyroid Function and TSH Receptor Antibodies During Early Pregnancy in Nepal","authors":"Kjersti S. Bakken,&nbsp;Apeksha Niraula,&nbsp;Ram K. Chandyo,&nbsp;Manjeswori Ulak,&nbsp;Laxman Shrestha,&nbsp;Vijay Kumar Sharma,&nbsp;Tor A. Strand,&nbsp;Tim I. M. Korevaar","doi":"10.1111/cen.15175","DOIUrl":"10.1111/cen.15175","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Different definitions of thyroid dysfunction during pregnancy may lead to under or overtreatment. The aims of this study were to (1) define population-based pregnancy-specific reference ranges for thyroid dysfunction during early pregnancy in Nepal and assess the impact of antibody positivity, (2) quantify the diagnostic impact of population-based reference ranges compared with current practice and (3) assess the determinants of thyroid function and antibody positivity.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A total of 800 healthy pregnant women aged 20–40 years in the Bhaktapur municipality were included. Population-based reference ranges for thyroid hormones levels were defined as 2.5th and 97.5th percentiles using competitive immunoluminometric assay design. Thyroid disease cases and those with recommended treatment indications were calculated using current non-pregnancy new reference ranges. Multivariate regression analyses were performed to identify the determinants of thyroid hormones and antibody levels.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Median gestational age was 11 weeks. The reference interval was 0.05–3.69 µLU/mL for thyroid stimulating hormone (TSH) and 8.89–15.28 pg/mL for free tetraiodothyronine (fT4) after excluding thyroid peroxidase antibody-positive women. Compared with the current non-pregnancy reference ranges, the new calculations increased the number of women who required treatment from 5 to 12 (0.9% increase). We identified 19 women (2.4%) who were positive for TSH receptor antibody (TRAb). We could not identify the determinants of TRAb positivity, and TRAb positivity was not associated with TSH or fT4 levels.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>We found meaningful changes using population-based pregnancy-specific TSH and fT4 reference intervals and encourage further studies in other low- and middle-income settings. Our findings suggest that population screening for TRAb is not clinically meaningful.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Trial Registration</h3>\u0000 \u0000 <p>Clinical Trial Registration: U1111-1183-4093.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":"102 3","pages":"332-343"},"PeriodicalIF":3.0,"publicationDate":"2024-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cen.15175","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142827588","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":"CSNK2B Mutation: A Rare Cause of IGHD.","authors":"Karine Aouchiche, Pauline Romanet, Anne Barlier, Thierry Brue, Morgane Pertuit, Rachel Reynaud, Alexandru Saveanu","doi":"10.1111/cen.15174","DOIUrl":"https://doi.org/10.1111/cen.15174","url":null,"abstract":"<p><strong>Objective: </strong>Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) is a rare neurodevelopmental syndrome, resulting from germline heterozygous CSNKB2 pathogenic variants. The main presentations are severe epilepsy, delayed psychomotor development, and/or profound intellectual disability. More recently, CSNK2B pathogenic variants have been reported in patients with mild intellectual disability and no history of epileptic symptoms. Short stature is present in 66% of patients, in half of these cases due to proven growth hormone deficiency.</p><p><strong>Methods: </strong>Whole genome sequencing (WGS) was performed through a French genomic program for a patient with isolated growth hormone deficiency after negative next generation sequencing (NGS) results. NGS panel analysis of CSNK2B and genes involved in isolated growth hormone deficiency (IGHD) was performed in 44 patients from the Genhypopit network (n = 2144) with growth hormone deficiency (GHD) and intellectual disability (ID) or epilepsy and in a convenience cohort of 68 GHD patients.</p><p><strong>Results: </strong>We present the first case of POBINDS presenting mainly as growth delay due to GHD. Genome analysis revealed a de novo pathogenic variant in the translation initiation codon of CSNK2B (c.1 A > G, p.(Met1?)). The patient had mild intellectual disability and subsequent analysis of the patient's clinical history revealed that he had had febrile convulsions, compatible with POBINDS. No CSNK2B pathogenic variants were identified among the 44 selected patients with GHD and ID or epilepsy, or in a convenience cohort of 68 patients with GHD.</p><p><strong>Conclusion: </strong>Although rare, pediatricians should be aware that POIBNDS syndrome may present as IGHD with mild ID.</p>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142827462","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":"Growth Prediction Model for Prepubertal Children With Idiopathic Growth Hormone Deficiency: An Analysis of LG Growth Study Data","authors":"Hwal Rim Jeong,&nbsp;Hae Sang Lee,&nbsp;Jin Soon Hwang","doi":"10.1111/cen.15178","DOIUrl":"10.1111/cen.15178","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Growth hormone (GH) treatment is effective in restoring normal growth in children with GH deficiency (GHD). However, individual responses to GH treatment vary, necessitating predictive models to estimate growth outcomes. This study aimed to develop and validate a predictive model for GH treatment response during the first 2 years in patients with idiopathic GHD using the LG growth study (LGS) database.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This observational study included 669 prepubertal patients with idiopathic GHD from the LGS registry who received GH treatment for at least 2 years. Clinical and laboratory data were collected at baseline and every 6 months thereafter. Stepwise multivariate regression analysis was performed to develop prediction models for the treatment period.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The mean age of patients with GDH was 6.0 ± 1.8 years. Height standard deviation score (SDS) significantly increased from −2.50 ± 0.71 to −1.66 ± 0.71 in the first year and −1.35 ± 0.71 in the second year. The first-year growth velocity was 9.06 ± 1.51 cm, decreasing to 7.42 ± 1.37 cm in the second year. The prediction models incorporated variables such as age, birth weight, bone age, initial height SDS, body mass index SDS, mid-parental height, GH dose and first year of height after GH treatment, explaining 76.9% and 84.1% of the variability in height SDS changes in the first and second years, respectively.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>GH treatment significantly improves height outcomes in prepubertal children with GHD. The developed predictive models demonstrated accuracy, facilitating personalized GH therapy. Future research should focus on refining these models and exploring the long-term effects of GH treatment in pubertal patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Trial Registration</h3>\u0000 \u0000 <p>ClinicalTrials.gov identifier: NCT01604395.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":"102 3","pages":"281-287"},"PeriodicalIF":3.0,"publicationDate":"2024-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142827585","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}