Endocrine journal最新文献

{"title":"A case of central diabetes insipidus after COVID-19 as a probable diagnosis of lymphocytic infundibulo-neurohypophysitis with positive anti-rabphilin-3A antibodies with review of literature.","authors":"Yuka Natsuki, Yuki Nagata, Toshiki Nagasaki, Mari Morimoto, Norikazu Toi, Masafumi Kurajoh, Tomoaki Morioka, Tetsuo Shoji, Yasuo Imanishi, Naoko Iwata, Haruki Fujisawa, Atsushi Suzuki, Yoshihisa Sugimura, Masanori Emoto","doi":"10.1507/endocrj.EJ24-0093","DOIUrl":"10.1507/endocrj.EJ24-0093","url":null,"abstract":"<p><p>Coronavirus disease 2019 (COVID-19) is caused by severe acute respiratory syndrome coronavirus 2, and various complications have been reported. Furthermore, there have been increasing reports of endocrinopathy related to COVID-19 following the pandemic. We report a 49-year-old healthy woman who developed rapid onset of polydipsia and polyuria three weeks after COVID-19. Laboratory tests indicated low urine osmolarity and increased serum osmolarity, and antidiuretic hormone (ADH) was undetectable. Urine osmolality remained low with water deprivation. Similarly, plasma ADH responses to hypertonic-saline infusion were blunted and urine osmolality increased in response to desmopressin. There was no clear evidence of anterior pituitary dysfunction. T1-weighted magnetic resonance imaging (MRI) showed pituitary stalk thickening and absence of posterior pituitary bright signal spots, suggesting the presence of hypophysitis. Based on these results, we made a probable diagnosis of lymphocytic infundibulo-neurohypophysitis (LINH) which have caused central diabetes insipidus. Positive findings for serum anti-rabphilin-3A antibodies, reported as a potential diagnostic marker for LINH, were also noted. Following oral desmopressin administration, polydipsia and polyuria were quickly improved, though treatment with desmopressin was still required over four months. This is the first report of a patient with a probable diagnosis of LINH after COVID-19 who tested positive for anti-rabphilin-3A antibodies. Positive findings for those antibodies suggest that pituitary dysfunction associated with COVID-19 is hypophysitis involving an abnormal immune mechanism. The presence of anti-rabphilin-3A antibodies may be useful as a non-invasive diagnostic marker of LINH and potentially serve as a valuable diagnostic aid in cases of LINH associated with COVID-19.</p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":"1165-1173"},"PeriodicalIF":1.3,"publicationDate":"2024-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11778354/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142092509","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":"Potential implications of thyroid autoantibodies in children, adolescents, and young adults with thyroid nodules in Japan: The Fukushima Health Management Survey.","authors":"Rina Tazaki, Yurie Kobashi, Nana Nakahata, Mahiro Asano, Norikazu Abe, Haruka Ejiri, Ayako Sato, Natsuki Nagamine, Chisato Takahashi, Yukie Yamaya, Manabu Iwadate, Takashi Matsuzuka, Satoshi Suzuki, Tetsuya Ohira, Satoru Suzuki, Fumihiko Furuya, Hiroki Shimura, Shinichi Suzuki, Susumu Yokoya, Shunichi Yamashita, Hitoshi Ohto, Seiji Yasumura","doi":"10.1507/endocrj.EJ24-0293","DOIUrl":"10.1507/endocrj.EJ24-0293","url":null,"abstract":"<p><p>There have been no systematic epidemiological evaluations of the relationship between thyroid autoimmunity and the clinical background of young patients with thyroid nodules. We aimed to clarify the clinical features associated with thyroglobulin or thyroperoxidase antibodies (thyroid autoantibodies [Tabs]) in children and young adults with nodules. We performed a cross-sectional study using data from 3,018 participants of 3-29 years of age with nodules, including thyroid cancer, from the Fukushima Health Management Survey. After stratification of the data for body mass index (BMI) and the bilateral width and thickness of the area (BWTAR) as indicators of thyroid volume for age, sex, body surface area (BSA), and sex-adjusted standard deviation score (SDS), trend analyses were performed. A logistic regression analysis was performed using tab-positivity as an objective variable. The overall prevalence of tab-positivity is 13.9%. It was high in females (17%), participants with diffuse goiter (DG) (19.2%), and those with papillary thyroid carcinoma (PTC) (12.8%). The age- and sex-adjusted odds ratios (95% confidence intervals) for BMI-SDS, BWTAR-SDS, presence of DG, diagnosis of PTC, and TSH concentrations were 0.962 (0.863-1.073), 1.263 (1.171-1.361), 7.357 (4.816-11.239), 2.787 (1.965-4.014), and 1.403 (1.257-1.564), respectively. Tab positivity was independently associated with a large thyroid, the presence of DG, the presence of PTC, and a high TSH concentration in patients with nodules. Based on the systematic epidemiologic evidence shown in young patients, Tab positivity might complement ultrasonography for the assessment of the thyroid function and identification of malignancy in younger patients with asymptomatic thyroid nodules.</p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":"1145-1155"},"PeriodicalIF":1.3,"publicationDate":"2024-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11778349/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142307382","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":"Association between serum testosterone changes and parameters of the metabolic syndrome.","authors":"Sohei Kuribayashi, Shinichiro Fukuhara, Hiroaki Kitakaze, Go Tsujimura, Takahiro Imanaka, Norichika Ueda, Kentaro Takezawa, Hiroshi Kiuchi, Ayaka Tachi, Jiro Sakamoto, Toyofumi Abe, Go Tanigawa, Yasushi Miyagawa, Takashi Fujimoto, Norio Nonomura","doi":"10.1507/endocrj.EJ24-0106","DOIUrl":"10.1507/endocrj.EJ24-0106","url":null,"abstract":"<p><p>Testosterone production is important in males, and various physical and psychological abnormalities occur in individuals with low testosterone levels. In the present study, we aimed to examine the effects of longitudinal changes in total testosterone levels in the same cohort. We included 178 male subjects who visited our hospital multiple times between 2018 and 2023 for medical checkups for at least 3 years. The median baseline age and total testosterone level (TT) of the cohort were 61 years and 4.74 ng/mL, respectively. The patients were divided into four groups based on the difference in TT (ΔTT) between baseline and last visit (Q1, n = 45; Q2, n = 45; Q3, n = 44; Q4, n = 44). ΔTT values ranged from -3.07 to -0.78 ng/mL in Q1, from -0.75 to -0.05 ng/mL in Q2, from -0.03 to 0.73 ng/mL in Q3, and from 0.75 ng/mL to 3.4 ng/mL in Q4. The median ΔTT were -1.22 for Q1, -0.35 for Q2, +0.19 for Q3, and +1.43 for Q4. Decreased TT tended to increase body weight, body mass index, waist circumference, and visceral fat (p for trend 0.0136, 0.0272, 0.0354, and 0.0032, respectively), and decrease adiponectin level (p for trend 0.0219). Herein, we found that decreased TT increases visceral fat and decreases adiponectin levels.</p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":"1125-1133"},"PeriodicalIF":1.3,"publicationDate":"2024-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11778362/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141901325","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":"Impact of periodic neck ultrasonography on locoregional disease control in surveillance after total thyroidectomy for patients with low- and intermediate-risk papillary thyroid carcinoma: a propensity score-matched study.","authors":"Takahiro Inaishi, Dai Takeuchi, Takahiro Ichikawa, Gai Inaguma, Atsushi Hashizume, Masaki Okazaki, Norikazu Masuda, Toyone Kikumori","doi":"10.1507/endocrj.EJ24-0194","DOIUrl":"10.1507/endocrj.EJ24-0194","url":null,"abstract":"<p><p>This study aimed to evaluate the impact of periodic neck ultrasonography (US) on postoperative surveillance for locoregional disease control of patients with low- and intermediate-risk papillary thyroid carcinoma (PTC) who underwent total thyroidectomy. This retrospective cohort study included patients with PTC who underwent total thyroidectomy and central neck dissection at our institution between January, 2000 and December, 2016. The patients were divided into two groups: the physical examination (PE) group (follow-up by PE without periodic US) and the US group (follow-up by PE with periodic US). Serum thyroglobulin levels were measured periodically in both groups. Propensity score matching was used to rigorously balance the significant variables and assess the 10-year postoperative outcomes between the groups. Of the 189 patients, 150 were included after matching (75 in each group). There were no significant differences between the two groups in terms of background characteristics. The median follow-up period was 127.9 months. There was no significant difference in locoregional relapse-free survival between the PE and US groups (97.0 vs. 98.7%, p = 0.541). The overall survival was 96.7% and 98.7% in the PE and US groups, respectively, with no significant difference (p = 0.364). This study demonstrated that the addition of periodic US to PE for postoperative surveillance of patients with low- and intermediate-risk PTC who underwent total thyroidectomy did not significantly affect locoregional control.</p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":"1135-1143"},"PeriodicalIF":1.3,"publicationDate":"2024-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11778352/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142364864","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":"Osilodrostat treatment in patients with Cushing's disease of Asian or non-Asian origin: a pooled analysis of two Phase III randomized trials (LINC 3 and LINC 4).","authors":"Akira Shimatsu, Beverly Mk Biller, Maria Fleseriu, Rosario Pivonello, Eun Jig Lee, Rattana Leelawattana, Jung Hee Kim, Rama Walia, Yerong Yu, Zhihong Liao, Andrea Piacentini, Alberto M Pedroncelli, Peter J Snyder","doi":"10.1507/endocrj.EJ24-0153","DOIUrl":"10.1507/endocrj.EJ24-0153","url":null,"abstract":"<p><p>Cushing's disease is associated with increased morbidity and mortality. Osilodrostat, a potent oral 11β-hydroxylase inhibitor, provided rapid, sustained mean urinary free cortisol (mUFC) normalization in Cushing's disease patients in two Phase III studies (LINC 3, NCT02180217; LINC 4, NCT02697734). Here, we evaluate the efficacy and safety of osilodrostat in Cushing's disease in patients of Asian origin compared with patients of non-Asian origin. Pooled data from LINC 3 and LINC 4 were analyzed. Outcomes were evaluated separately for Asian and non-Asian patients. For the analysis, 210 patients were included; 56 (27%) were of Asian origin. Median (minimum-maximum) osilodrostat dose was 3.8 (1-25) and 7.3 (1-47) mg/day in Asian and non-Asian patients, respectively. mUFC control was achieved at weeks 48 and 72 in 64.3% and 68.1% of Asian and 68.2% and 75.8% of non-Asian patients. Improvements in cardiovascular and metabolic-related parameters, physical manifestations of hypercortisolism, and quality of life were similar in both groups. Most common adverse events (AEs) were adrenal insufficiency (44.6%) in Asian and nausea (45.5%) in non-Asian patients. AEs related to hypocortisolism and pituitary tumor enlargement occurred in more Asian (58.9% and 21.4%) than non-Asian patients (40.3% and 9.1%). Of Asian and non-Asian patients, 23.2% and 13.6%, respectively, discontinued because of AEs. Asian patients with Cushing's disease generally required numerically lower osilodrostat doses than non-Asian patients to achieve beneficial effects. Hypocortisolism-related AEs were reported in more Asian than non-Asian patients. Together, these findings suggest that Asian patients are more sensitive to osilodrostat than non-Asian patients.</p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":"1103-1123"},"PeriodicalIF":1.3,"publicationDate":"2024-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11778389/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142055246","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":"Adrenocortical carcinoma with circulating tumor DNA analysis at post-operative recurrence: a case report with review of literature.","authors":"Daisuke Aono, Toshiaki Kato, Akina Morisawa, Sakuya Kimata, Seigo Konishi, Mitsuhiro Kometani, Takashi Yoneda, Kazuyoshi Hosomichi, Shigehiro Karashima","doi":"10.1507/endocrj.EJ24-0346","DOIUrl":"https://doi.org/10.1507/endocrj.EJ24-0346","url":null,"abstract":"<p><p>Recently, the usefulness of circulating tumor DNA (ctDNA) analysis in various malignancies has been reported. However, reports on ctDNA analysis in adrenocortical carcinoma (ACC) are few. Therefore, this study aimed to examine the detectability of genetic mutations in ctDNA and the association between ctDNA allelic ratio and disease progression in a patient with post-operative recurrence of ACC. A 77-year-old woman presented with a 5.4 cm left adrenal mass, which was clinically diagnosed as subclinical cortisol-producing ACC on close examination. She underwent left adrenalectomy and was diagnosed with stage II (T2N0M0) ACC. Post-operatively, adjuvant chemotherapy with mitotane was commenced because of histologically high-grade ACC. However, 17 months post-operatively, she had a local recurrence at the left adrenalectomy site. FoundationOne^® CDx Cancer Genome Profile showed CTNNB1 G34A mutation in the resected adrenal tumor. She had heart failure and interstitial pneumonia and was treated with radiotherapy for local recurrence. Subsequently, lung and liver metastasis appeared post-operatively at 21 and 23 months, respectively. Serum dehydroepiandrosterone sulfate and computed tomography findings at 27 months post-operatively showed disease progression. We collected the peripheral blood at 23 and 27 months post-operatively and analyzed 18 genes associated with adrenal disease in plasma cell-free DNA and the resected adrenal tumor using a next-generation sequencer. At both time-points, CTNNB1 mutations consistent with the primary tumor were observed in ctDNA, with the allelic ratio increasing over time from 8% to 27%. In conclusion, monitoring the ctDNA allelic ratio may be useful for evaluating disease progression in advanced ACC.</p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142767412","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":"https://doi.org/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":""},"PeriodicalIF":1.3,"publicationDate":"2024-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A real-world disproportionality analysis of tirzepatide-related adverse events based on the FDA Adverse Event Reporting System (FAERS) database.","authors":"Jie Li, Jun Xie, Yi Han, Wei Zhang, Yilei Wang, Zhitao Jiang","doi":"10.1507/endocrj.EJ24-0286","DOIUrl":"https://doi.org/10.1507/endocrj.EJ24-0286","url":null,"abstract":"<p><p>Tirzepatide is a novel drug for the treatment of type 2 diabetes mellitus and chronic weight management, and there is an urgent need to explore its safety profile. The FDA Adverse Event Reporting System (FAERS) database provides a reliable pathway for adverse event (AE) disproportionality analysis. Data regarding AEs registered in the FAERS between Q2 2022 and Q4 2023 were collected for this study. The reporting odds ratio (ROR) method was applied to analyse the association between tirzepatide use and the risk of developing AEs. The occurrence of ≥3 AEs with an ROR value 95% confidence interval (CI) lower limit >1 was considered to indicate statistical significance. Data on 638,153 AEs were collected from the FAERS database, and tirzepatide use was implicated for 8,096 of those AEs. A total of 98 preferred terms (PTs) were detected as positive signals for tirzepatide use. Frequently observed expected AEs included injection site pain, nausea, injection site haemorrhage, diarrhoea, and vomiting. Some unexpected AEs that were frequently observed included incorrect doses, off-label use, the administration of extra doses, an inappropriate schedule of product administration, and increased blood glucose. In this study, we identified potential novel and unexpected AE signals associated with tirzepatide use. Our findings confirm the importance of real-world disproportionality analysis in identifying the safety profile of new drugs, ultimately contributing to the safe clinical application of tirzepatide.</p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142738734","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":"Epidermal growth factor receptor contributes to indirect regulation of skeletal muscle mass by androgen.","authors":"Tomoya Onishi, Hiroshi Sakai, Hideaki Uno, Iori Sakakibara, Akiyoshi Uezumi, Mamoru Honda, Tsutomu Kai, Shigeki Higashiyama, Noriyoshi Miura, Tadahiko Kikugawa, Takashi Saika, Yuuki Imai","doi":"10.1507/endocrj.EJ24-0410","DOIUrl":"https://doi.org/10.1507/endocrj.EJ24-0410","url":null,"abstract":"<p><p>Androgen is widely acknowledged to regulate skeletal muscle mass. However, the specific mechanism driving muscle atrophy resulting from androgen deficiency remains elusive. Systemic androgen receptor knockout (ARKO) mice exhibit reduction in both muscle strength and muscle mass while skeletal muscle fiber specific ARKO mice have decreased muscle strength without affecting skeletal muscle mass in the limbs. Therefore, androgens may indirectly regulate skeletal muscle mass through effects on non-myofibers. Considering this, our investigation focused on blood fluid factors that might play a role in the regulation of skeletal muscle mass under the influence of androgens. Using a male mouse model of sham, orchidectomy and DHT replacement, mass spectrometry for serum samples of each group identified epidermal growth factor receptor (EGFR) as a candidate protein involving the regulation of skeletal muscle mass affected by androgens. Egfr expression in both liver and epididymal white adipose tissue correlated with androgen levels. Furthermore, Egfr expression in these tissues was predominantly elevated in male compared to female mice. Interestingly, male mice exhibited significantly elevated serum EGFR concentrations compared to their female counterparts, suggesting a connection with androgen levels. Treatment of EGFR to C2C12 cells promoted phosphorylation of AKT and its downstream S6K, and enhanced the protein synthesis in vitro. Furthermore, the administration of EGFR to female mice revealed a potential role in promoting an increase in skeletal muscle mass. These findings collectively enhance our understanding of the complex interplay among androgens, EGFR, and the regulation of skeletal muscle mass.</p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142709670","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 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":"https://doi.org/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":""},"PeriodicalIF":1.3,"publicationDate":"2024-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}