Endocrine Connections最新文献

{"title":"Hyperthyroidism induced by paraneoplastic human chorionic gonadotropin (hCG) production from testicular tumours: a retrospective clinical and histopathological study.","authors":"Julia Rohayem, Jan Idkowiak, Sebastian Huss, Thomas Balke, Hendrik Schürmann, Birthe Heitkötter, Joachim Wistuba, Angela Huebner","doi":"10.1530/EC-24-0341","DOIUrl":"10.1530/EC-24-0341","url":null,"abstract":"<p><p>Human chorionic gonadotropin (hCG) has structural similarities with thyroid-stimulating hormone (TSH) and may stimulate TSH receptors at higher concentrations. During pregnancy, placental hCG causes TSH suppression, contributing to hyperemesis. However, in males, clinical manifestations caused by excess hCG are rare. Herein, we describe complications of life-threatening thyroid storm caused by paraneoplastic hCG secretion from testicular germ cell tumours (GCTs) and aim to identify high-risk groups through retrospective analysis in n = 20 males (aged 17-55 years) with testicular hCG-positive GCTs. Seven hCG-positive testicular GCTs were classified as seminoma, and 13 were classified as non-seminomatous GCTs (NSGCTs). In 3/7 males with seminomas (43%), serum β-hCG concentrations were mildly elevated (median: 0.3 U/L; range: 0.3-82.1 U/L). In contrast, β-hCG was increased in 12/13 (92%) males with a NSGCT (median: 71.1 U/L; range: 0.3-1,600,000 U/L). In 10/13 males with NSGCT (77%), we detected components of embryonal cell carcinoma (EC), and in 7/13 (54%), we detected components of a choriocarcinoma (ChC). TSH was suppressed with high free thyroxine levels in two cases with NSGCT and excessively elevated β-hCG concentrations, but there was no TSH suppression in a further case with high β-hCG. One patient with NSGCT and high β-hCG levels presented with thyroid storm and imminent decompensation refractory to anti-thyroid treatment, requiring a total thyroidectomy. In the second patient, anti-thyroid treatment was initiated shortly after the diagnosis, successfully normalizing hyperthyroxinaemia. In conclusion, paraneoplastic β-hCG production, occurring in NSGCTs with components of ECs or ChCs, is a rare cause of thyrotoxicosis. Early recognition and treatment are critical to prevent a life-threatening thyroid storm.</p>","PeriodicalId":11634,"journal":{"name":"Endocrine Connections","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11728933/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142675469","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":"High-coverage targeted lipidomics revealed a novel serum lipid dysregulation profile in adult growth hormone deficiency.","authors":"Hongbo Yang, Meiping Chen, Lingjuan Jiang, Linjie Wang, Lian Duan, Fengying Gong, Huijuan Zhu, Hui Pan","doi":"10.1530/EC-24-0424","DOIUrl":"10.1530/EC-24-0424","url":null,"abstract":"<p><strong>Purpose: </strong>Patients with adult growth hormone deficiency (AGHD) are at an increased risk of metabolic syndrome. Despite extensive research efforts in recent decades, the lipid metabolism pattern of AGHD has yet to be thoroughly characterized.</p><p><strong>Methods: </strong>In this study, we used lipidomics analysis of fasting serum samples from 30 AGHD patients with intracranial germ cell tumors (iGCTs) and 30 age-, gender- and body mass index (BMI)-matched healthy controls to investigate the serum lipidomic pattern of AGHD patients with iGCTs. We meticulously quantified 534 serum lipids from 29 classes using high-coverage targeted lipidomics technology in conjunction with a robust bioinformatics pipeline.</p><p><strong>Results: </strong>Our results revealed an AGHD-specific dynamic change in the serum lipidomic profile, manifested by higher overall levels of many lipid subclasses, including triacylglycerols (TAGs), diacylglycerols (DAGs), phosphatidylglycerols, phosphatidylethanolamines (PE), phosphatidylcholines (PC), phosphatidylinositols, ceramides and bis(monoacylglycerol)phosphates, than in healthy controls and a distinct lower level for alkyl PE (PE-O) and alkyl PC (PC-O). AGHD individuals with nonalcoholic fatty liver disease showed specific changes in higher TAG and DAG subclass levels. Alterations in lipid profiles may contribute to metabolic dysregulation in AGHD patients. TAGs, PCs and PE fatty acids positively correlated with BMI, fasting insulin, insulin resistance index and adverse lipid parameters. In contrast, ether-linked PE-O, PC-O and LysoPE-O showed a negative correlation.</p><p><strong>Conclusions: </strong>This study has significantly expanded the current understanding of lipid dysregulation in AGHD patients with iGCT. These findings can potentially guide future research and development of monitoring and intervention strategies.</p>","PeriodicalId":11634,"journal":{"name":"Endocrine Connections","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11728935/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142617092","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":"Bone turnover markers, and growth and bone parameters in infants participating in a vitamin D intervention study.","authors":"Sabrina Persia, Elisa Holmlund-Suila, Saara Valkama, Maria Enlund-Cerullo, Jenni Rosendahl, Sture Andersson, Outi Mäkitie, Helena Hauta-Alus","doi":"10.1530/EC-24-0482","DOIUrl":"10.1530/EC-24-0482","url":null,"abstract":"<p><p>Amino-terminal propeptide of type 1 procollagen (P1NP) and carboxy-terminal crosslinked telopeptide of type 1 collagen (CTX-I) are markers of bone metabolism. We examined the effect of vitamin D3 supplementation on these markers and their relationship with growth and bone parameters in 12-month-old infants. In a randomized, double-blinded, vitamin D intervention in infants (VIDI) study, 987 infants received daily vitamin D3 supplementation of 10 μg (group-10) or 30 μg (group-30) from age 2 weeks to 24 months. We conducted a secondary analysis of the original VIDI trial. At 12 months of age, P1NP (n = 812) and CTX-I (n = 786) concentrations were analyzed, and anthropometrics and total bone mineral content, volumetric bone mineral density, cross-sectional area and polar moment of inertia of tibia were measured by peripheral quantitative computed tomography. The growth rate in weight and length was calculated from birth to 12 months. The vitamin D dose did not influence mean (SD) levels of CTX-I (group-10: 0.90 (0.31); group-30: 0.89 (0.31) (P > 0.53)). The mean difference of P1NP (CI 95%) comparing group-10 with group-30 was 35 (-103, 33) ng/mL (P = 0.31) in boys and -63 (-4, 130) ng/mL (P = 0.064) in girls. In group-10, girls had higher mean (SD) value of P1NP (1509 (362) ng/mL) than boys (1407 (297) ng/mL) (P = 0.003); no sex differences were observed in group-30 (girls: 1446 (359); boys: 1442 (359), P = 0.91) or CTX-I. P1NP associated positively with the growth rate in length (B (CI 95%) 0.0003 (0.0001, 0.001), P = 0.022) in the whole cohort but not in subgroups divided by the intervention group or sex, adjusted for birth size and parental heights and corrected for multiple testing. P1NP associated positively with the growth rate in weight (0.01 (0.0003, 0.01), P < 0.001). An inverse association was observed between CTX-I and length (cm) in the whole cohort (-0.90 (-1.40, -0.40), P = 0.005) and in group-30 (-1.05 (-1.72, -0.39), P = 0.011). Furthermore, CTX-I associated negatively with weight (SDS) in the whole cohort (-0.33 (-0.55, -0.12), P = 0.015) and the growth rate in weight (-0.43 (-0.66, -0.20), P = 0.005), persisting in group-30 and in boys but not in group-10 or in girls. Neither marker was associated with bone parameters. The observed sex difference in P1NP might suggest that a higher vitamin D dose resulted in a small decrease in bone collagen matrix formation in girls but not in boys. P1NP and CTX-I associate with growth and body size but not with bone mineralization in infancy.</p>","PeriodicalId":11634,"journal":{"name":"Endocrine Connections","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11728877/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142646574","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":"Somatic GNAS mutations in acromegaly: prevalence, clinical features and gender differences.","authors":"Yamei Yang, Yong Yao, Kan Deng, Bin Xing, Wei Lian, Hui You, Feng Feng, Xin Lian, Xinxin Mao, Fengying Gong, Linjie Wang, Meiping Chen, Xiaoan Ke, Hui Miao, Lian Duan, Huijuan Zhu","doi":"10.1530/EC-24-0266","DOIUrl":"10.1530/EC-24-0266","url":null,"abstract":"<p><strong>Background: </strong>Somatic GNAS mutations are acknowledged as a significant etiological factor for acromegaly. However, the relationship between GNAS mutation status, clinical characteristics and gender has not been adequately investigated. This study aims to address these gaps by examining GNAS mutations and delineating the detailed clinical profile of affected patients within a Chinese acromegaly cohort.</p><p><strong>Methods: </strong>Our study encompassed 97 individuals newly diagnosed with acromegaly who underwent surgical treatment between May 2015 and January 2022. We obtained DNA from frozen pituitary adenomas to screen for GNAS hotspot mutations and assessed the associated clinical characteristics.</p><p><strong>Results: </strong>In our cohort, 44.3% (43/97) of patients exhibited somatic GNAS mutations. Patients with mutations were predominantly male (58.1 vs 33.3%, P = 0.015), experienced longer diagnosis delays (72.0 (48.0, 120.0) vs 36.0 (21.0, 75.0) months, P = 0.002), had smaller maximum tumor diameters (1.75 ± 0.83 vs 2.23 ± 0.89 cm, P = 0.008) and demonstrated higher rates of growth hormone (GH) secretion per unit tumor volume (18.93 (9.67, 30.12) vs 10.91 (2.80, 20.40) ng/mL cm-3, P = 0.005). Regarding gender-specific differences, GNAS mutations in male patients were linked to significantly higher baseline GH levels (24.40 (14.40, 36.30) vs 10.55 (5.25, 16.95) ng/mL, P = 0.002), while female patients with mutations had notably smaller tumor sizes (1.55 ± 0.55 cm vs 2.32 ± 0.85 cm, P < 0.001).</p><p><strong>Conclusion: </strong>GNAS mutations are prevalent among Chinese acromegaly patients, correlating with reduced pituitary tumor sizes and enhanced GH secretion functions. Our findings underscore the influence of gender on the clinical manifestations of GNAS mutations. Accordingly, we recommend that future clinical and foundational research studies on acromegaly give heightened consideration to gender-specific differences.</p>","PeriodicalId":11634,"journal":{"name":"Endocrine Connections","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11728932/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142602736","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":"Exploration of the shared gene signatures and comorbidity mechanisms of primary aldosteronism and atrial fibrillation.","authors":"Jindong Wan, Sen Liu, Tao Luo, Yi Yang, Dan Wang, Xinquan Wang, Peng Zhou, Jixin Hou, Peijian Wang","doi":"10.1530/EC-24-0402","DOIUrl":"10.1530/EC-24-0402","url":null,"abstract":"<p><strong>Background: </strong>Primary aldosteronism (PA) is a prevalent cause of endocrine hypertension characterized by an excess of aldosterone that can induce proinflammatory, prooxidant and profibrotic effects on the heart. Emerging evidence indicates a heightened incidence of atrial fibrillation (AF) in patients with PA, suggesting a significant association between the two conditions. However, the underlying mechanisms remain unclear. The purpose of this study was to investigate the molecular networks associated with the development of both PA and AF.</p><p><strong>Methods: </strong>Datasets were obtained from the Gene Expression Omnibus database. Hub genes were identified by enrichment and protein-protein interaction analysis. These hub genes were subsequently validated via two independent external datasets: GSE60042 (PA microarray dataset) and GSE41177 (AF microarray dataset). Following the identification of shared genes, quantitative real-time polymerase chain reaction (qPCR) was employed to verify the reliability of the dataset and to further confirm the presence of shared genes in clinical samples.</p><p><strong>Results: </strong>The results of the common gene analysis revealed that immune and inflammatory responses may be shared features in the pathophysiology of PA and AF. One hub gene, specifically tumor necrosis factor superfamily member 10 (TNFSF10), was identified through various analyses and subsequently validated via qPCR. Compared with that in healthy controls, the expression level of TNFSF10 was lower in PA patients with AF.</p><p><strong>Conclusion: </strong>Our findings indicate that TNFSF10 may play a role in the pathophysiology of AF complications associated with PA conditions, suggesting that it could serve as a potential target for the diagnosis or treatment of PA patients complicated with AF.</p>","PeriodicalId":11634,"journal":{"name":"Endocrine Connections","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11728919/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142544377","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":"Mildly elevated serum prolactin level may be a protective factor for preventing thickening of the carotid intima-media in patients with type 2 diabetes mellitus.","authors":"Baoyu Zhang, Jing Ke, Ning Zhang, Wenying Zhao, Liyong Zhong","doi":"10.1530/EC-24-0285","DOIUrl":"10.1530/EC-24-0285","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the correlation between the serum prolactin (PRL) level and carotid intima-media thickness (CIMT) in patients with type 2 diabetes mellitus (T2DM).</p><p><strong>Methods: </strong>In this study, 1,500 participants were divided into three groups based on the serum PRL level: hypoprolactinemia group (PRL ≤ 7 μg/L), normal PRL level group (7 μg/L < PRL ≤ 25 μg/L), and homeostatic functionally increased transient PRL (Ho-PRL) group (25 μg/L < PRL ≤ 100 μg/L). The independent-sample Kruskal-Wallis test was used to compare the CIMT among the three groups. The Spearman correlation test was used to examine the relationship between the CIMT, serum PRL level, and clinical data. Multivariate linear regression analysis was used to determine the independent factors that influence the CIMT.</p><p><strong>Result: </strong>Individuals in the Ho-PRL group had a significantly lower CIMT compared to the hypoprolactinemia and normal PRL level groups (P < 0.001). The CIMT was positively correlated with age, systolic blood pressure (SBP), body mass index, duration of T2DM, and luteinizing hormone and follicle-stimulating hormone levels and negatively correlated with alanine transaminase and aspartate transaminase activities, estimated glomerular filtration rate, and PRL. Multivariate linear regression analysis revealed that only PRL was negatively associated with the CIMT, while age and SBP were positively associated with the CIMT.</p><p><strong>Conclusion: </strong>In patients with T2DM, a PRL level within the mildly elevated range is negatively correlated with the CIMT. A mildly elevated serum PRL level may be a protective factor for preventing thickening of the carotid intima-media.</p>","PeriodicalId":11634,"journal":{"name":"Endocrine Connections","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11728874/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142617093","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 features and search for genetic determinants of postprandial hypoglycaemia.","authors":"Qian Ren, Xueyao Han, Siqian Gong, Simin Zhang, Tianhao Ba, Yilin Zhao, Yating Li, Yan'ai Wang, Xianghai Zhou, Yufeng Li, Linong Ji","doi":"10.1530/EC-24-0409","DOIUrl":"10.1530/EC-24-0409","url":null,"abstract":"<p><strong>Objective: </strong>To test whether postprandial hypoglycaemia is an extreme and repeatable phenotype of glucose metabolism. We also explored the genetic determinants of this phenotype.</p><p><strong>Design and methods: </strong>We conducted this study using data from the Pinggu Metabolic Disease Study database (n = 3,345). We selected subjects after an oral glucose tolerance test (OGTT) (2 h glucose < 3 mmol/L) and compared their clinical features with those of subjects with normal glucose tolerance (NGT). In addition, we selected 75 subjects as a super-healthy control group. Whole-exome sequencing (WES) was performed on subjects with postprandial hypoglycaemic and super-healthy controls. We also evaluated several candidate genes believed to be important in pancreatic hypoglycaemia.</p><p><strong>Results: </strong>We found 13 participants (0.39%) who had an OGTT (2 h glucose < 3 mmol/L). Ten of these patients were men (76.9%). All 13 participants had insulin >3 μU/mL when postprandial blood glucose levels were <3 mmol/L. WES analysis identified one gene, paternally expressed 3 (PEG3), which had three rare mutations in four patients (30.8%). Minor allele frequencies of rare PEG3 mutations were significantly higher in subjects with postprandial hypoglycaemia than in super-healthy controls. Among the four subjects with PEG3 gene mutations, 71.4% were men, and their body mass index was significantly lower than that of the NGT group.</p><p><strong>Conclusions: </strong>Postprandial hypoglycaemia is an extreme and reproducible phenotype in the general population. PEG3 mutations may represent a potential genetic aetiology for postprandial hypoglycaemia. Further research with larger and more diverse populations and a broader genetic focus is needed to understand the genetic basis of postprandial hypoglycaemia.</p>","PeriodicalId":11634,"journal":{"name":"Endocrine Connections","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11728931/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142566471","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":"Serum adiponectin level is negatively related to insulin resistance in women with polycystic ovary syndrome.","authors":"Jie Yang, Min Lin, Xiaoyan Tian, Chujun Li, Haocun Wu, Ling Deng, Xuelan Li, Xin Chen","doi":"10.1530/EC-24-0401","DOIUrl":"10.1530/EC-24-0401","url":null,"abstract":"<p><strong>Purpose: </strong>Our study aimed to assess the relationship between serum adipokines and insulin resistance (IR) in women with polycystic ovary syndrome (PCOS) and explore the predictive value of adipokines on IR in PCOS.</p><p><strong>Methods: </strong>This was a prospective cross-sectional study. 154 women with PCOS were included from July 2021 to September 2022 who underwent gonadal steroid hormone measurement, lipid profile, oral glucose tolerance test and homoeostasis model assessment (HOMA)-IR. Adiponectin (APN), leptin and secreted frizzled-related protein (Sfrp5) were measured by immunoturbidimetry and enzyme-linked immunosorbent assay. Women with PCOS were categorised based on the presence of IR.</p><p><strong>Results: </strong>Women with PCOS with IR (n = 99) had significantly lower APN level and APN-to-leptin ratio (A/L ratio) than those without IR (n = 55), whereas serum levels of leptin and Sfrp5 were similar between the two groups. In multivariable linear regression analysis, serum log (APN) and log (A/L ratio) were associated with log (HOMA-IR), and the association was statistically significant after adjusting for body mass index and free androgen index. The area under the receiver operating characteristic curve (95% CI) for APN and A/L ratio was 0.726 (0.644-0.807; P < 0.001) and 0.660 (0.569-0.751; P < 0.01), respectively, with cutoff values of 5.225 mg/L (Youden index ¼ 0.364) and 1.438 mg/L (Youden index ¼ 0.265).</p><p><strong>Conclusion: </strong>Our study demonstrated that serum APN was negatively related to IR. Serum APN may be useful as a clinical marker for IR in women with PCOS. Our findings warrant further investigations into the function of APN in the pathogenesis of IR in women with PCOS.</p>","PeriodicalId":11634,"journal":{"name":"Endocrine Connections","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11728917/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142544378","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":"Magnetic Resonance Imaging does not distinguish Kallmann syndrome from normosmic isolated hypogonadotropic hypogonadism.","authors":"Małgorzata Kałużna, Katarzyna Katulska, Katarzyna Ziemnicka, Pola Kompf, Bartlomiej Budny, Paweł Komarnicki, Michal Rabijewski, Jerzy Moczko, Jarosław Kałużny, Marek Ruchala","doi":"10.1530/EC-24-0437","DOIUrl":"https://doi.org/10.1530/EC-24-0437","url":null,"abstract":"<p><strong>Introduction and objectives: </strong>Isolated hypogonadotropic hypogonadism (IHH) may be associated with pituitary gland and olfactory system disorders. We aimed to correlate findings of Magnetic Resonance Imaging (MRI) of the pituitary gland and olfactory system in IHH patients with the patients' olfactory phenotype.</p><p><strong>Patients and methods: </strong>The present research was a single-center retrospective case-control study. MRI patterns of pituitary gland and olfactory system were studied in 46 patients, of whom 29 (63%) were classified on the basis of olfactometry as having Kallmann syndrome (KS) (16 patients with anosmia; 13 patients with hyposmia) and 17 (37%) as having normosmic IHH (nIHH). Results were compared with age- and sex-matched healthy controls. Genetic diagnosis was conducted in all IHH patients based on next-generation sequencing (NGS).</p><p><strong>Results: </strong>Almost 70% prevalence of pituitary hypoplasia was observed in IHH subjects. Olfactory Bulb (OB) abnormalities were identified in 80.4% of all patients, both the KS (82.8%) and the nIHH (76.5%) subjects. Incidence of unilaterally abnormal, hypoplastic Olfactory Sulcus (OS) was equally frequent in nIHH and KS. Statistically, piriform cortical thickness was significantly lower in all patient groups than in controls.</p><p><strong>Conclusions: </strong>MRI cannot exclusively differentiate between KS and nIHH, as both conditions may present with OB and OS abnormalities. A surprisingly high frequency of olfactory system abnormalities was observed in nIHH patients, while anterior pituitary hypoplasia was prevalent across all IHH patients. Notably, OB abnormalities were more predominant in KS patients than in those with nIHH.</p>","PeriodicalId":11634,"journal":{"name":"Endocrine Connections","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142885065","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":"Iodine activates NLRP3 inflammasomes in PBMCs of patients with autoimmune thyroiditis, and regulates Th1 and Th17 cell differentiation.","authors":"Ying Wu, Qingling Guo, Yongping Liu, Xun Gong, Wei Sun, Yushu Li, Chenling Fan, Weiping Teng, Zhongyan Shan","doi":"10.1530/EC-24-0456","DOIUrl":"https://doi.org/10.1530/EC-24-0456","url":null,"abstract":"<p><p>Inflammasomes are associated with various autoimmune diseases. Herein, we aimed to study the occurrence of inflammasomes in peripheral blood mononuclear cells (PBMCs) from patients with autoimmune thyroiditis (AIT), and the relationship between their abundance and the inflammatory response index of AIT. Furthermore, we examined the effect of iodine on inflammasomes containing NLR family pyrin domain containing 3 (NLRP3) and inflammasome activation of helper T cell (Th) differentiation regulation in cultured PBMCs.</p>","PeriodicalId":11634,"journal":{"name":"Endocrine Connections","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142767414","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}