Endocrine journal最新文献

{"title":"Early postoperative levothyroxine initiation after total thyroidectomy for Graves' disease.","authors":"Yuji Nagayama, Seigo Tachibana, Takashi Fukuda, Kento Katsuyama, Daisuke Tatsushima, Yusuke Mori, Hisakazu Shindo, Hiroshi Takahashi, Misa Okamura, Atsushi Yamaoka, Shinya Sato, Hiroyuki Yamashita","doi":"10.1507/endocrj.EJ25-0009","DOIUrl":"https://doi.org/10.1507/endocrj.EJ25-0009","url":null,"abstract":"<p><p>No evidence-based standards exist regarding levothyroxine (LT4) replacement therapy initiation timing in patients with hyperthyroid Graves' disease undergoing total thyroidectomy. Although LT4 replacement from the first postoperative day has been the standard of care at our hospital, its clinical validity has not been thoroughly examined. This study investigated the perioperative kinetics of thyroid hormones to assess the safety and efficacy of early LT4 initiation. Thirty patients with Graves' disease (18 hyperthyroid and 12 euthyroid) and 12 with thyroid nodules who underwent total thyroidectomy were included. Blood samples were collected from each patient for thyroid hormone measurement on the day before surgery (D-1), 15 min after surgery (D0), at 8:00 am on days 1 (D1) and 3 (D3), and 3 weeks (W3) and 3 months (M3) after surgery. In 18 patients with hyperthyroid Graves' disease, serum free triiodothyronine (FT3) levels significantly decreased immediately after surgery and were within the normal range by D1. Although LT4 was started on D1, FT3 levels continued to decline by D3 and remained low at W3 and M3. Serum FT4 levels followed a slower decline but remained within the normal range for M3. In patients with euthyroid Graves' disease and those with thyroid nodules, hormone levels stayed within or around the reference range throughout the observation period. In conclusion, initiating LT4 on the day after surgery is safe and effective for maintaining thyroid function in patients with hyperthyroid Graves' disease undergoing total thyroidectomy. These results could inform future guidelines, supporting earlier postoperative LT4 initiation.</p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143729422","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":"Hypopituitarism: genetic, developmental, and acquired etiologies with a focus on the emerging concept of autoimmune hypophysitis.","authors":"Hironori Bando, Shin Urai, Keitaro Kanie, Masaaki Yamamoto","doi":"10.1507/endocrj.EJ25-0035","DOIUrl":"https://doi.org/10.1507/endocrj.EJ25-0035","url":null,"abstract":"<p><p>Hypopituitarism, characterized by reduced secretion of pituitary hormones, profoundly impacts systemic metabolic homeostasis and quality of life. Its etiology ranges from congenital anomalies in pituitary development to acquired conditions involving inflammation and autoimmune processes. Despite advances in understanding its pathogenesis, diagnostic challenges persist, particularly in cases with complex extra-pituitary manifestations or novel genetic variations. Congenital hypopituitarism often stems from disruptions in transcription factors and signaling pathways critical for pituitary organogenesis. Emerging studies employing next-generation sequencing and developmental biology techniques have revealed new genetic loci and mechanisms implicated in combined pituitary hormone deficiency. However, the pathogenesis of most congenital cases remains elusive, underscoring the need for functional and phenotypic analyses of novel variants. Acquired hypopituitarism, frequently associated with pituitary tumors or systemic diseases, has also been increasingly linked to autoimmune mechanisms. Notably, the concept of paraneoplastic autoimmune hypophysitis has emerged, highlighting malignancy-driven immune responses as a novel etiological framework. Investigations into immune checkpoint inhibitor-related hypophysitis and anti-PIT-1 hypophysitis exemplify the intricate interplay between tumor immunity and endocrine dysfunction, suggesting shared mechanisms involving ectopic antigen expression and autoimmunity. This review synthesizes recent insights into the genetic, developmental, and immunological underpinnings of hypopituitarism. By exploring both congenital and acquired etiologies, we aim to bridge gaps in the current understanding of this complex disorder and provide a foundation for improved diagnostic and therapeutic strategies. Future perspectives emphasize the integration of advanced genetic tools, deeper exploration of tumor-immunity interactions, and a heightened focus on extra-pituitary phenotypes to refine clinical practice and enhance patient outcomes.</p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143729427","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":"Disseminated intravascular coagulation as a frequent and critical complication of thyroid storm: a single-center retrospective survey.","authors":"Ayako Hoshiyama, Akinori Hayashi, Tomomi Taguchi, Yasuhiro Ohata, Akihiko Suzuki, Tsuguto Masaki, Raishi Ichikawa, Yuji Kamata, Takeshi Miyatsuka","doi":"10.1507/endocrj.EJ24-0542","DOIUrl":"https://doi.org/10.1507/endocrj.EJ24-0542","url":null,"abstract":"<p><p>Thyroid storm (TS) is a rare but fatal endocrine emergency with high mortality, and there have been few detailed reports on its severity and possible complications to date. Therefore, a single-center retrospective survey was conducted to comprehensively analyze the severity, treatments, and complications of patients with thyroid storm who were admitted to Kitasato University Hospital between 2012 and 2023. A total of 22 patients who experienced thyroid storm were extracted; 19 patients (86%) had Graves' disease, among which 12 patients were newly diagnosed, and there were 4 fatalities (18.1%) during the study period. The median Acute Physiology and Chronic Health Evaluation II (APACHE II) score and median Sequential Organ Failure Assessment (SOFA) score were 20 and 5, respectively, and both scores were higher in critical patients who needed ventilation, continuous hemodialysis and filtration, therapeutic plasma exchange, percutaneous cardiopulmonary support, extracorporeal membrane oxygenation, or who finally died. Diagnostic criteria for disseminated intravascular coagulation (DIC) were met in five patients (23%) who had significantly higher scores on the Burch-Wartofsky Point Scale as well as APACHE II and SOFA scores than the other patients. Thus, DIC is a frequent and critical complication of TS, which can lead to severe consequences, suggesting the necessity of prompt and intensive management of these patients.</p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143699932","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":"Severe obesity with hypo-leptinemia.","authors":"Masanori Kita, Shuhei Morita, Hiroyuki Ariyasu, Tomoya Tsuji, Shinsuke Uraki, Ken Takeshima, Hiroshi Iwakura, Taka-Aki Matsuoka","doi":"10.1507/endocrj.EJ24-0568","DOIUrl":"https://doi.org/10.1507/endocrj.EJ24-0568","url":null,"abstract":"<p><p>Some cases of obesity are thought to be associated with hypo-leptinemia. This may cause decreased appetite suppression resulting in increased appetite, leading to weight gain. Replacement therapy with leptin might be theoretically useful, but verification by reporting more cases is required. Here, we first investigated the serum leptin levels and their correlation with body mass index (BMI) in 107 patients with obesity to identify the subjects with hypo-leptinemia. Among them, one patient with congenital hypopituitarism was further investigated by comparison of his clinical and pathological characteristics with those of control subjects. This 40-year-old Japanese man, who was large from birth, consistently showed obesity of more than 2SD during his growth period. He had 41.5 kg/m² at BMI with central hypogonadism, central diabetes insipidus and severe growth hormone deficiency, cognitive impairment, and abnormal eating behavior, which led to suspicion of the involvement of hypothalamic factors. Genetic analysis revealed no definite mutations regarding metabolic and nutritional systems or adipocytes including leptin-related genes. Electron microscopic images of subcutaneous adipose tissue demonstrated relatively smaller adipocytes compared with a BMI-matched patient. The patient suffered from his abnormal eating behavior, began dialysis at the age of 41 years, and died of bacterial pneumonia at 49 years of age. Among patients with severe obesity with hypo-leptinemia, there could be patients with disturbance of healthy expansion in adipocyte, probably due to unknown dysfunction. Even with the lack of abnormality of leptin-related genes, indication of leptin-replacement may be considered for severely obese patients with hypo-leptinemia.</p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143699933","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":"The influence of hypertensive disorders of pregnancy on the development of long-term postpartum type 2 diabetes mellitus.","authors":"Shota Inoue, Yasunori Takata, Yasuharu Tabara, Koutatsu Maruyama, Ayaka Yoshida, Haruhiko Osawa, Takashi Sugiyama","doi":"10.1507/endocrj.EJ25-0033","DOIUrl":"https://doi.org/10.1507/endocrj.EJ25-0033","url":null,"abstract":"<p><p>The association between hypertensive disorders of pregnancy (HDP) and the subsequent development of type 2 diabetes (T2D) in Japanese general population remains unclear. To investigate the influence of HDP on long-term postpartum development of metabolic disorders and T2D, we conducted a population-based cross-sectional study using the 75 g oral glucose tolerance test (75g-OGTT) in 978 parous Japanese women (median age: 66 years). We further evaluated the combined effect of HDP and T2D susceptibility genes on developing T2D. HDP history was identified in 101 participants (10.3%) and associated with high blood pressure, hypertriglyceridemia, increased homeostasis model assessment 2 for insulin resistance, decreased Matsuda index and insulin secretion-sensitivity index-2, increased postprandial glucose levels during the 75g-OGTT, and increased prevalence of hypertension, metabolic syndrome and T2D. The age and BMI adjusted odds ratio (OR) for T2D was 1.74 (95%CI: 1.04-2.93) in individuals with HDP as compared to those without HDP. Stratified analyses demonstrated an increased OR of T2D prevalence for individuals with HDP history harboring the cyclin-dependent kinase 5 regulatory subunit associated protein 1-like 1 (CDKAL1) C/C genotype compared with that of the reference group after adjusting for age and current BMI (OR = 5.18 vs. reference group; 95% CI: 1.99-13.50). Further, validation analyses using bootstrap method showed high reproducibility. HDP history was associated with postpartum prevalence of hypertension, insulin resistance and T2D later in life in Japanese general population. Further, the simultaneous assessment of an HDP history and CDKAL1 genotype is valuable to predict the future T2D development (UMIN000036074).</p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143613511","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":"Status of temozolomide use without insurance coverage in patients with aggressive pituitary neuroendocrine tumors.","authors":"Atsushi Ishida, Naoko Inoshita, Noriaki Tanabe, Koji Takano, Hideki Shiramizu, Haruko Yoshimoto, Masataka Kato, Go Matsuoka, Shozo Yamada","doi":"10.1507/endocrj.EJ24-0727","DOIUrl":"https://doi.org/10.1507/endocrj.EJ24-0727","url":null,"abstract":"<p><p>The 2017 World Health Organization classification described aggressive pituitary neuroendocrine tumor (PitNET) as \"a tumor with strong invasiveness and rapid growth, which is difficult to treat with surgery, radiation therapy, or drug therapy,\" which remains a challenge in the treatment of pituitary tumors. Currently, temozolomide (TMZ) is the first-line treatment for aggressive PitNET. However, it is not yet covered by insurance in Japan. Additionally, O6-Methylguanine-DNA Methyltransferase (MGMT) expression can lead to treatment resistance, further complicating treatment selection. We previously demonstrated the effectiveness of combination therapy with capecitabine (CAPTEM) in several cases of aggressive PitNETs. The present study described our experiences with TMZ in 13 patients with aggressive PitNETs (including four patients administered CAPTEM). Pathological examination revealed eight corticotroph, four lactotroph, and one somatotroph tumors. Of these, seven patients are still receiving treatment, and six patients have terminated treatment. The reasons for discontinuation were poor efficacy (three patients), financial reasons (two patients), and patient preference (one patient). No patients required treatment discontinuation owing to adverse events. Furthermore, one case of a lactotroph tumor, which achieved remission with CAPTEM but was discontinued after three years for financial reasons, remains in remission on imaging and maintained normal PRL levels for 15 months after discontinuation. The most significant issue is off-label use. Concern exists that financial constraints may prevent future patients from using TMZ.</p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143613504","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":"Establishment of novel prognostic groups for papillary thyroid carcinoma using a modified risk classification based on tumor extension in the guidelines of the Japan Association of Endocrine Surgery.","authors":"Yasuhiro Ito, Masashi Yamamoto, Minoru Kihara, Naoyoshi Onoda, Akihiro Miya, Akira Miyauchi","doi":"10.1507/endocrj.EJ24-0610","DOIUrl":"https://doi.org/10.1507/endocrj.EJ24-0610","url":null,"abstract":"<p><p>The latest \"General Rules for the Description of Thyroid Cancer,\" published in 2023, introduced depth-based subcategories of tumor invasion, dividing sEx2 into sEx2a, sEx2b, and sEx3. However, the \"Clinical Guidelines on the Management of Thyroid Tumors,\" published in 2024, continue to classify these categories uniformly as high-risk for papillary thyroid carcinoma (PTC). We evaluated the appropriateness of reclassifying sEx2a-high-risk patients as intermediate-risk. A total of 9,247 patients [median age: 52 years (7-93)] who underwent locally curative surgery were enrolled, with a median follow-up of 7.8 years. Cause-specific survival (CSS), distant recurrence-free survival (DR-FS), and local recurrence-free survival (LR-FS) worsened progressively from low-risk to high-risk patients. We compared the prognoses among the patients classified as sEx2a-high-risk, sEx2b, and intermediate-risk. The CSS, DR-FS, and LR-FS outcomes of sEx2b patients were significantly poorer than those of sEx2a-high-risk and intermediate-risk patients. By reclassifying sEx2a-high-risk patients as intermediate-risk, we established a new high-risk and intermediate-risk classification. The number of high-risk patients decreased from 2,274 to 1,132, whereas the number of intermediate-risk patients increased from 2,875 to 4,017. Prognoses in these new groups showed minimal differences compared to the original high- and intermediate-risk classifications. We established novel prognostic groups: favorable (N = 6,398, low-risk and intermediate-risk <55 years), intermediate (N = 2,324, intermediate-risk ≥55 years and high-risk <55 years), and poor (N = 525, high-risk ≥55 years). Prognoses significantly worsened across these groups from favorable to poor (p < 0.001). The reclassification of PTC based on tumor extension and the proposed novel prognostic groups provide a more accurate evaluation of PTC outcomes.</p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143584841","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 the random C-peptide and random C-peptide index at diagnosis as a predictor of disease type and long-term insulin secretory capacity in children with diabetes mellitus.","authors":"Keita Numasawa, Kentaro Shiga, Makiko Kitao, Hiroaki Konno, Kuniyuki Nishiyama, Koji Ohsugi, Kanako Ebina, Nobuyuki Kikuchi, Shuichi Ito","doi":"10.1507/endocrj.EJ24-0517","DOIUrl":"https://doi.org/10.1507/endocrj.EJ24-0517","url":null,"abstract":"<p><p>The random C-peptide and random C-peptide index (CPI) have been shown to be useful in assessing endogenous insulin secretory capacity in adults with type 2 diabetes. This study aimed to clarify the utility of C-peptide and the CPI in early classification of long-term insulin-dependent status in pediatric diabetes patients. A total of 204 patients aged ≤15 years who received an initial diagnosis of acute-onset type 1 diabetes mellitus (T1DM), slowly progressive insulin-dependent diabetes mellitus (SPIDDM), or type 2 diabetes mellitus (T2DM) at Yokohama City University Medical Center between April 1, 2003 and March 31, 2018 were included. The acute-onset T1DM, SPIDDM, and T2DM groups included 140, 8, and 56 patients, respectively. The median random C-peptide values were 0.67, 3.18, and 4.16 ng/mL and median random CPI values were 0.19, 2.02, and 2.53 for acute-onset T1DM, SPIDDM, and T2DM cases, respectively (acute-onset T1DM vs. T2DM, p < 0.001 (C-peptide), p < 0.001 (CPI), acute-onset T1DM vs. SPIDDM, p < 0.001 (C-peptide), p < 0.001 (CPI), SPIDDM vs. T2DM, p = 0.04 (C-peptide), p = 0.19 (CPI)). Receiver operating characteristic analysis cutoff values of C-peptide levels in differentiating acute-onset T1DM from SPIDDM and acute-onset T1DM from T2DM were 1.60 ng/mL (sensitivity 87.5%, specificity 90.6%) and 1.81 ng/mL (sensitivity 91.1%, specificity 93.5%), while the respective CPI values were 0.46 (100% sensitivity, 77% specificity) and 1.05 (92.1% sensitivity, 87.5% specificity). This study indicates that the random C-peptide and random CPI at diagnosis are helpful in the early classification of childhood diabetes and determining an appropriate time to introduce insulin and predicting the subsequent clinical course.</p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143566433","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":"Effects of rapid weight loss on the body composition and pathophysiological mechanisms involved in obesity.","authors":"Yuri Kadowaki, Tomohisa Aoyama, Yusuke Hada, Masakazu Aihara, Mika Sawada, Rie Sekine, Hidetaka Itoh, Takashi Kadowaki, Naoto Kubota, Toshimasa Yamauchi","doi":"10.1507/endocrj.EJ24-0315","DOIUrl":"10.1507/endocrj.EJ24-0315","url":null,"abstract":"<p><p>The Japan Society for the Study of Obesity recommends a weight loss of 3% of body weight over a period of 3-6 months. However, the effects of rapid weight loss on the body composition have not yet been adequately studied. Therefore, we observed the changes in the body composition induced by rapid weight loss and its effects on the pathophysiological mechanisms involved in obesity. The subjects were people with obesity admitted to our institution. The goal was to achieve a 3-5% body weight loss in the subjects by combining a carbohydrate-controlled therapeutic diet of 25-30 kcal/day per kg target body weight, exercise therapy, and pharmacotherapy. The body composition was measured at admission and at discharge by the dual bioelectrical impedance analysis. After 2 weeks, the participants' body weight decreased by 4.2%; the visceral fat area decreased by 16.7%, the subcutaneous fat area by 2.4%, and the lean area by 4.0%. The moderate weight loss, moderate energy restriction and adequate protein intake significantly reduced the visceral fat area while allowing the lean area to be preserved. Improvements were also noted in the peripheral white blood cell count and C-reactive protein level. However, no statistically significant changes in homeostasis model assessment for insulin resistance and the adiponectin level were noted. Regarding clinical parameters, improvements of the systolic and diastolic blood pressures, fasting plasma glucose, triglycerides, low-density lipoprotein cholesterol, and degree of microalbuminuria were observed. Short-term comprehensive treatment produced beneficial body composition changes, and improvements in the pathophysiological mechanisms involved in obesity.</p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":"307-317"},"PeriodicalIF":1.3,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11913558/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142738737","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A parent and child with Liddle syndrome diagnosed correctly with the child as the proband: a case report with review of literature.","authors":"Minako Tokunaga, Yuko Seki, Tatsushi Horiguchi, Kiwako Miura, Haruna Kakimoto, Satoshi Morita, Michiyo Mizota, Koshi Kusumoto, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Yasuhiro Okamoto","doi":"10.1507/endocrj.EJ24-0180","DOIUrl":"10.1507/endocrj.EJ24-0180","url":null,"abstract":"<p><p>Liddle syndrome (LS) is an autosomal dominant genetic disorder characterized by early onset hypertension, hypokalemia, and low plasma aldosterone or renin concentration. It is caused by mutations in subunits of the epithelial sodium channel (ENaC). The clinical phenotypes of LS are variable and nonspecific, making it prone to both misdiagnosis and missed diagnosis. Genetic analysis is necessary to confirm the diagnosis of LS. Herein, we report the case of a 42-year-old male with LS and a 30-year history of hypertension. He was being treated for possible primary aldosteronism (PA) over the preceding 7 years; however, his hypertension was poorly controlled despite intensive combination therapy. His 13-year-old son served as a proband for a diagnosis of LS, as he had hypertension, hypokalemia, and a significant family history of hypertension. Genetic testing revealed a heterozygous pathological variant in the SCNN1B gene. This led to a diagnosis of LS, as the father was found to harbor the same mutation. Both were treated with ENaC inhibitors and a salt-restricted diet, which improved their symptoms markedly. The son's genetic diagnosis facilitated the subsequent proper diagnosis and treatment of his father. LS causes early onset hypertension; hence, its early diagnosis and treatment can prevent complications. Hereditary hypertension should be considered in cases of early onset hypertension with a significant family history. Patients diagnosed with PA using outdated criteria may have concomitant LS and require careful evaluation of biochemical and endocrine tests according to the current criteria.</p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":"319-323"},"PeriodicalIF":1.3,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11913552/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142681159","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}