Endocrine journal最新文献

{"title":"Distribution of blood pressure and its positive association with body mass index standard deviation score in pediatric patients with X-linked hypophosphatemia: a sub-group analysis from the SUNFLOWER observational study.","authors":"Kaori Fujiwara, Daijiro Kabata, Ryota Kawai, Hee Gyung Kang, Noriyuki Namba, Nobuaki Ito, Ayumi Shintani, Seiji Fukumoto, Keiichi Ozono, Toshimi Michigami","doi":"10.1507/endocrj.EJ25-0179","DOIUrl":"https://doi.org/10.1507/endocrj.EJ25-0179","url":null,"abstract":"<p><p>Few studies have investigated the distribution of blood pressure (BP) and associated factors in pediatric patients with X-linked hypophosphatemic rickets (XLH). We analyzed snapshot baseline data from the SUNFLOWER study, a longitudinal observational cohort study of patients with XLH in Japan and South Korea (NCT03745521/UMIN000031605). We used data from pediatric participants aged 5-17 years who were 120-189.9 cm (males) and 120-179.9 cm (females) in height and had a history of conventional treatment. Systolic and diastolic BP (SBP and DBP, respectively) were categorized into percentile ranks based on age, sex, and height. Ordinal logistic regression analyses were performed to investigate the association between BP and exposure factors, including estimated glomerular filtration rate, serum intact parathyroid hormone levels, serum intact fibroblast growth factor 23 levels, urinary calcium/creatinine ratio, and body mass index standard deviation score (BMI-SDS). Forty-five participants were eligible for the subgroup analysis. Of these, 44 were evaluated after one patient with missing BP data was excluded. After height adjustment, three patients (6.8%) were at or above the 95th percentile for SBP, and five (11.4%) were at or above the 95th percentile for DBP. Regarding age adjustment, one patient (2.3%) was at or above the 95th percentile for SBP and three (6.8%) were at or above the 95th percentile for DBP. In the association analysis, age- and height-adjusted BP was positively correlated with BMI-SDS. These results suggest that some pediatric patients with XLH exhibit high BP and that a high BMI-SDS may be a risk factor.</p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145231691","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Medullary thyroid carcinoma exclusively associated with a homozygous RET V778I pathogenic variant: a case report with review of literature.","authors":"Minoru Kihara, Akira Miyauchi, Takashi Akamizu","doi":"10.1507/endocrj.EJ25-0261","DOIUrl":"https://doi.org/10.1507/endocrj.EJ25-0261","url":null,"abstract":"<p><p>Medullary thyroid carcinoma (MTC) can occur sporadically or as a hereditary disease. The latter often presents with a multiple endocrine neoplasia type 2 (MEN2) phenotype and is caused by germline-activating pathogenic variants in the RET proto-oncogene, whereas the former may harbor somatic-activating RET pathogenic variants. Here, we report a family with a germline RET V778I pathogenic variant. The proband was a 72-year-old woman with bilateral multifocal MTCs but without other MEN2 features. Germline RET analysis revealed a homozygous V778I pathogenic variant. Postoperative histopathological examination confirmed bilateral multifocal MTC with lymph node metastasis. The patient's parents were cousins. The patient had no family history of MTC or MEN2. Her three middle-aged children were heterozygous for the V778I pathogenic variant, had no symptoms or signs of MTC, and had normal serum calcitonin and CEA levels. The proband died of cardiac and pulmonary diseases at the age of 86, 15 years after surgery, without MTC recurrence. Unlike other dominant RET pathogenic variants, in which a single mutated allele is sufficient for tumor development, V778I may have weak oncogenic activity, requiring homozygosity to develop MTC. Therefore, prophylactic thyroidectomy is not recommended for heterozygous carriers. To the best of our knowledge, this is the second report of a family with MTC exclusively associated with a homozygous RET pathogenic variant. This is also the first report of a germline RET V778I pathogenic variant associated with MTC under homozygous conditions.</p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145231662","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sex-specific associations between annual kidney function changes and weight/waist changes in overweight Japanese: Japan Specific Health Checkup cohort.","authors":"Naoki Ozu, Jiro Takeuchi, Kiyoshi Asada, Kunihiro Yamagata, Kunitoshi Iseki, Toshiki Moriyama, Kazuhiko Tsuruya, Shouichi Fujimoto, Ichiei Narita, Tsuneo Konta, Masahide Kondo, Yugo Shibagaki, Koichi Asahi, Tsuyoshi Watanabe, Masato Kasahara","doi":"10.1507/endocrj.EJ25-0259","DOIUrl":"https://doi.org/10.1507/endocrj.EJ25-0259","url":null,"abstract":"<p><p>The impact of changes in obesity-related parameters on kidney functions is unclear. To evaluate the association of body weight (BW) and waist circumference (WC) changes with estimated glomerular filtration rate (eGFR) and proteinuria in obese individuals, we conducted retrospective analysis of the Japan Specific Health Checkup cohort of 664,926 participants (Japanese residents aged 40-74 years) from 2008 to 2011. Participants were classified into nine groups based on BW and WC changes from baseline. Sex differences were stratified. Generalized estimating equations were used to evaluate eGFR changes within each group and the effect of BW or WC changes on eGFR. In a similar manner, the impact of BW and WC changes on the incidence of proteinuria was measured. As a result, total of 20,326 participants with a body mass index of ≥25 kg/m² and available baseline data, 1-year BW and WC, and 4-year eGFR measurements were included in the analysis. The eGFR slope was -0.59 (95% confidence interval [CI], -0.66 to -0.51). At a threshold change of approximately 5%, compared to the group with unchanged BW and WC, males with decreased BW and WC had improved eGFR at 3 years (1.75; 95% CI, 0.49 to 3.02). Contrastingly, females with increased BW and WC had worsened eGFR at 3 years (-3.44; 95% CI, -6.40 to -0.47). These trends were similar when the thresholds were changed or when the outcome was proteinuria. In conclusion, males with decreasing WC and BW had improved kidney function. Future studies should evaluate specific lifestyle factors.</p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145205821","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Utility of gel filtration chromatography in evaluating successful resection of ectopic adrenocorticotropic hormone-producing tumor: a case report and literature review.","authors":"Mei Nakatsuji, Hironori Bando, Masaaki Yamamoto, Maki Kanzawa, Takefumi Doi, Yasutaka Tsujimoto, Kei Yoshino, Hidenori Fukuoka, Itsuko Sato, Yoshihiko Yano, Yugo Tanaka, Wataru Ogawa","doi":"10.1507/endocrj.EJ25-0098","DOIUrl":"10.1507/endocrj.EJ25-0098","url":null,"abstract":"<p><p>Ectopic adrenocorticotropic hormone (ACTH) syndrome resulting from ectopically secreting tumors poses a significant clinical challenge. Accurately identifying the tumor source and achieving curative resection are pivotal for patient prognosis; however, achieving these objectives is often complicated by complex ACTH secretion patterns. High-molecular-weight ACTH, frequently secreted by ectopic ACTH-producing tumors, is distinct from the conventional 39-amino-acid ACTH (ACTH_1-39) produced by the pituitary gland. We believe that the evaluation of ACTH characteristics using gel filtration chromatography (GFC) can be used to determine whether curative resection can be achieved. A patient with ectopic ACTH syndrome owing to a thymic neuroendocrine tumor was enrolled in this study. Despite a marked reduction in plasma ACTH levels post-surgery, the levels remained above the detection threshold, raising concerns regarding potential residual tumor activity. To investigate this further, GFC was employed to differentiate between ACTH_1-39 and high-molecular-weight ACTH in postoperative plasma samples. High-molecular-weight ACTH was predominant in the postoperative samples, whereas preoperative peripheral blood was primarily composed of ACTH_1-39. These findings suggest that sustained low-level ACTH post-surgery was likely owing to a delayed clearance of high-molecular-weight ACTH rather than a residual tumor activity. This interpretation is supported by the patient's favorable postoperative course and long-term follow-up, which showed no recurrence. This case study highlights the novel potential of GFC for aiding clinical decision-making.</p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":"1127-1134"},"PeriodicalIF":2.1,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144224765","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Potentially fatal crisis after ¹⁷⁷Lu-DOTATATE therapy for paraganglioma: a case report with review of literature.","authors":"Aoki Tobimatsu, Kosuke Mukai, Yoshinari Obata, Kayako Isohashi, Kazuyuki Miyashita, Atsunori Fukuhara, Hiroki Kato, Iichiro Shimomura","doi":"10.1507/endocrj.EJ24-0713","DOIUrl":"10.1507/endocrj.EJ24-0713","url":null,"abstract":"<p><p>Pheochromocytoma/paraganglioma (PPGL) is a rare neuroendocrine tumor with metastatic potential. Peptide receptor radionuclide therapy with ¹⁷⁷Lu-DOTATATE, a radiolabeled somatostatin analog, has been used for the treatment of somatostatin receptor-positive PPGLs and has shown promising efficacy and generally mild toxicity. However, rare instances of fatal crises following treatment have been reported. A 50-year-old man with pheochromocytoma was admitted for ¹⁷⁷Lu-DOTATATE therapy. At the age of 49, he received ¹³¹I-MIBG therapy for the recurrence of pheochromocytoma with bone metastasis. He rejected additional radionuclide treatment because of work commitments. However, the patient's plasma normetanephrine levels increased to >7,200 pg/mL, which worsened his pain from bone metastasis. Therefore, the patient resumed radionuclide treatment. Because his markedly elevated catecholamine levels might have induced a hypertensive crisis, ¹⁷⁷Lu-DOTATATE therapy was applied to reduce staff radiation exposure in an emergency. He developed a fever and tachycardia approximately 30 hours after ¹⁷⁷Lu-DOTATATE administration followed by cardiopulmonary arrest with hemoptysis approximately 35 hours after the administration. He was not revived. Postmortem imaging suggested alveolar hemorrhage. ¹⁷⁷Lu-DOTATATE administration might induce a fatal crisis, alveolar hemorrhage, and subsequent death. This is the first detailed report of a patient with PPGL who died shortly after ¹⁷⁷Lu-DOTATATE therapy. A review of five reported cases of fatal crises after ¹⁷⁷Lu-DOTATATE treatment suggests that high catecholamine levels are associated with a risk of crisis. In conclusion, while ¹⁷⁷Lu-DOTATATE therapy is generally considered safe, our findings underscore the potential risks of fatal crisis after therapy. Careful monitoring of patients with PPGL should be performed after treatment.</p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":"1143-1150"},"PeriodicalIF":2.1,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144599739","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Safety management in Cushing syndrome during osilodrostat treatment based on morning blood cortisol level.","authors":"Takuyuki Katabami, Ren Matsuba, Tomoyuki Nagasaka, Yutaro Yamamoto, Kensuke Sakai, Masakatsu Sone","doi":"10.1507/endocrj.EJ24-0696","DOIUrl":"10.1507/endocrj.EJ24-0696","url":null,"abstract":"<p><p>Osilodrostat dosage is adjusted based on 24-h urinary free cortisol (UFC) levels. However, approximately 1 week is required to obtain the results. In contrast, serum cortisol levels are available soon after sampling, allowing the determination of osilodrostat doses promptly. However, this issue remains poorly understood. Therefore, this study aimed to determine whether a simultaneous assay of serum cortisol and UFC concentrations is useful in patients with Cushing syndrome (CS) receiving osilodrostat. This was a retrospective cross-sectional study. A total of 71 paired samples in six patients with CS during osilodrostat treatment were analyzed in this study. The 24-h urine sample collection was started from the day before blood sampling, and UFC and morning serum cortisol levels were measured on the same day. Commercially available immunoassay kits were used for the hormone measurements. A significant positive correlation between morning cortisol levels and UFC levels was observed. Receiver operating characteristic analysis showed a cut-off of 21.5 μg/dL for serum cortisol as the best indicator to predict high UFC levels. The cut-off secured UFC samples >3× the upper limit of normal. However, the positive predictive value of serum cortisol levels in predicting low UFC was considerably low. A serum cortisol level <5.0 μg/dL, which is often used to suggest adrenal insufficiency, captured patients with hypocortisolism even when the serum cortisol and UFC results were discordant. Simultaneous measurements of single morning serum cortisol and UFC levels on the same day will promote safety in patients with CS who are being treated with osilodrostat.</p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":"1079-1088"},"PeriodicalIF":2.1,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144324801","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Balancing efficacy and safety: glucokinase activators in glycemic and metabolic management of type 2 diabetes mellitus-a meta-analysis.","authors":"Yue Zeng, Yilan Ye, Yingchun Li, Min Yuan, Jingyu Hu","doi":"10.1507/endocrj.EJ24-0711","DOIUrl":"10.1507/endocrj.EJ24-0711","url":null,"abstract":"<p><p>Type 2 diabetes mellitus (T2DM) is a persistent condition typically defined by prolonged hyperglycemia resulting from beta-cell impairment and insulin resistance. Glucokinase activators (GKAs) are new medications that target glucokinase (GK) to increase glucose utilization in both the pancreas and liver. Its effectiveness and safety are inconsistent across various doses and types. The meta-analysis assessed the effectiveness and safety of GKAs in T2DM on glycemic control (hemoglobin A1c [HbA1c], fasting plasma glucose [FPG], postprandial plasma glucose [PPG]) as well as metabolic parameters (lipids, body weight, safety outcomes) stratified by dosage, type, and intervention time. The study involved a comprehensive analysis of 3,854 participants drawn from 11 randomized controlled trials (RCTs). Standardized mean differences (SMDs) and risk ratios (RRs) were computed employing random-effects models, alongside conducting sensitivity and subgroup analyses. GKAs effectively lowered HbA1c and PPG, especially high-dose (HbA1c: SMD = -0.43, 95% CI: -0.62 to -0.24) and dual-acting GKAs. Medium and high-dose GKAs were associated with increased risk of hypoglycemia (RR = 1.50; 1.63). At 24 weeks, GKAs led to increases in triglycerides, body weight, and liver enzymes, with the majority of these effects subsiding by 52 weeks. GKAs provide favorable glycemic control but carry dose-dependent concerns. While dual-acting GKAs demonstrate impressive efficacy, hepatoselective GKAs reveal improved safety. There exists a pressing need for further longitudinal studies and customized treatment approaches concerning the utilization of GKAs.PROSPERO registration: CRD42020188517.</p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":"1099-1114"},"PeriodicalIF":2.1,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144575080","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Changes in body mass index during chemotherapy are positively associated with height outcome in childhood cancer survivors of acute lymphoblastic leukemia.","authors":"Tamaki Wada, Ayaha Hata, Takatoshi Maeyama, Shinobu Ida, Kohei Higuchi, Maho Sato, Akihisa Sawada, Yuri Etani, Masanobu Kawai","doi":"10.1507/endocrj.EJ24-0545","DOIUrl":"10.1507/endocrj.EJ24-0545","url":null,"abstract":"<p><p>Impaired linear growth is an important morbidity in childhood cancer survivors (CCS); however, chemotherapy-associated factors that affect height outcomes remain elusive. Accordingly, we conducted a single-center, retrospective cohort study that included survivors of childhood-onset acute lymphoblastic leukemia (ALL) diagnosed between 2002 and 2021 who achieved complete remission through chemotherapy alone. Anthropometric parameters and treatment protocols were evaluated based on medical records. Individuals with background disorders or impaired growth were excluded from the study. Associations between anthropometric parameters during chemotherapy and height standard deviation scores (height-SDS) at the current visit were investigated. The results are expressed as the median (interquartile range). Seventy-three individuals (males, N = 44) were included in the study. The median age (years) at diagnosis, end of chemotherapy, and current visit were 4.2 (3.2 to 7.9), 6.3 (5.1 to 10.0), and 15.9 (11.4 to 19.2), respectively. Height-SDS at diagnosis was -0.25 (-0.65 to 0.35), which significantly declined during chemotherapy and recovered thereafter, resulting in a current height-SDS of -0.31 (-0.84 to 0.22). The height-SDS at the investigated time points and its changes during chemotherapy did not differ among the treatment protocols. Multivariate analysis revealed that height-SDS at the current visit was positively associated with changes in body mass index (BMI)-SDS during chemotherapy (β = 0.22, p = 0.01) after adjusting for sex, current age, height-SDS at diagnosis, changes in height-SDS during chemotherapy, and treatment protocols. Since changes in BMI are potentially influenced by nutritional status, our results may underscore the importance of nutritional status during chemotherapy on height outcomes in childhood ALL survivors.</p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":"1089-1097"},"PeriodicalIF":2.1,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144505134","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A case of mineralocorticoid intermediate-producing sarcomatoid adrenal cortical carcinoma: case report and review of literature.","authors":"Maki Kanzawa, Miki Watanabe, Masaaki Yamamoto, Tomoko Nishigaki, Masaki Suzuki, Hidenori Fukuoka, Tomoaki Terakawa, Katsumi Shigemura, Hiroki Shimada, Yasuhiro Nakamura, Wataru Ogawa, Tomoo Itoh","doi":"10.1507/endocrj.EJ24-0687","DOIUrl":"10.1507/endocrj.EJ24-0687","url":null,"abstract":"<p><p>Sarcomatoid adrenal cortical carcinoma (SACC) is an extremely rare histological subtype accounting for only 0.2% of all adrenal cortical carcinomas. Most reported cases of SACC are nonfunctional, showing a biphasic histological pattern with both epithelial adrenocortical carcinoma and sarcomatous components, which are often associated with poor prognosis. Herein, we report a unique case of SACC with characteristics distinct from those previously documented. A 66-year-old man presented with uncontrolled hypertension, night sweats, exertional dyspnea, and palpitations. Imaging revealed an 11 cm mass in the left adrenal gland. Laboratory results indicated hypokalemia with suppressed plasma renin and aldosterone levels and the presence of mineralocorticoid intermediates, notably elevated deoxycorticosterone (DOC), detected via LC-MS/MS. The patient underwent a left adrenalectomy. Histologically, the tumor consisted solely of spindle cells without the typical adrenocortical carcinoma components. Immunohistochemical analysis demonstrated partial positivity for steroidogenic enzymes, including 3β-hydroxysteroid dehydrogenase, cytochrome P450 family 21 subfamily A member 2 (CYP21A2) and cytochrome P450 family 11 subfamily B member 1 (CYP11B1). This finding was consistent with RNA expression analysis, supporting the synthesis of mineralocorticoid intermediates within the tumor. However, the discrepancy between the measured steroid intermediate metabolites and enzyme expression patterns in the tumor, as indicated by immunostaining and mRNA levels, suggests that the steroid production pathway in this tumor remains partially unclear. Two years postoperatively, the patient has remained free from recurrence or metastasis. This case holds particular value, as it is the first report to describe hormone production in a SACC composed solely of spindle cells.</p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":"1151-1161"},"PeriodicalIF":2.1,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144324800","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Twin study method: Unlocking genetic and environmental interactions.","authors":"Mikio Watanabe","doi":"10.1507/endocrj.EJ25-0188","DOIUrl":"10.1507/endocrj.EJ25-0188","url":null,"abstract":"<p><p>Twin studies offer a powerful approach for disentangling genetic and environmental influences on human traits. By comparing monozygotic twins with identical genetic makeup, researchers can more accurately identify the environmental contributions to phenotypic variation. Structural equation modeling provides a theoretical framework for estimating the relative contributions of additive genetic effects, shared environmental factors, and unique environmental influences. This model allows researchers to determine the most suitable parameters for explaining the observed data in twin populations. In addition, bioinformatic tools enable in-depth analyses of phenotypically discordant monozygotic twin pairs, helping to uncover both environmental sensitivities and genetic predispositions. This review examines the advantages and limitations of twin study methodologies in research on endocrine disorders, lipid metabolism, and thyroid function. Findings from twin cohorts have enhanced our understanding of heritability, environmental modifiers, and epigenetic factors, offering valuable insights into gene-environment interactions. Overall, twin studies remain critical tools in genetics, endocrinology, and obesity research. In the future, genetic information may enable the development of optimal personalized environments, ultimately providing valuable insights that contribute to physical, mental, and social well-being throughout the lifespan.</p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":"1061-1068"},"PeriodicalIF":2.1,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144198488","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}