Endocrine journal最新文献_第6页

Cell-specific functions of androgen receptor in skeletal muscles. 骨骼肌中雄激素受体的细胞特异性功能

IF 2 4区医学

Endocrine journal Pub Date : 2024-05-23 Epub Date: 2024-01-27 DOI: 10.1507/endocrj.EJ23-0691

Hiroshi Sakai, Yuuki Imai

{"title":"Cell-specific functions of androgen receptor in skeletal muscles.","authors":"Hiroshi Sakai, Yuuki Imai","doi":"10.1507/endocrj.EJ23-0691","DOIUrl":"10.1507/endocrj.EJ23-0691","url":null,"abstract":"Androgens play a vital role not only in promoting the development of male sexual characteristics but also in exerting diverse physiological effects, including the regulation of skeletal muscle growth and function. Given that the effects of androgens are mediated through androgen receptor (AR) binding, an understanding of AR functionality is crucial for comprehending the mechanisms of androgen action on skeletal muscles. Drawing from insights gained using conditional knockout mouse models facilitated by Cre/loxP technology, we review the cell-specific functions of AR in skeletal muscles. We focus on three specific cell populations expressing AR within skeletal muscles: skeletal muscle cells, responsible for muscle contraction; satellite cells, which are essential stem cells contributing to the growth and regeneration of skeletal muscles; and mesenchymal progenitors, situated in interstitial areas and playing a crucial role in muscle homeostasis. Furthermore, the indirect effects of androgens on skeletal muscle through extra-muscle tissue are essential, especially for the regulation of skeletal muscle mass. The regulation of genes by AR varies across different cell types and contexts, including homeostasis, regeneration and hypertrophy of skeletal muscles. The varied mechanisms orchestrated by AR collectively influence the physiology of skeletal muscles.","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139569680","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}

引用次数: 0

Clinical findings of acute necrotizing esophagitis complicated by diabetic ketoacidosis. 糖尿病酮症酸中毒并发急性坏死性食管炎的临床表现。

IF 2 4区医学

Endocrine journal Pub Date : 2024-05-23 Epub Date: 2024-03-07 DOI: 10.1507/endocrj.EJ23-0516

Yuichiro Iwamoto, Tomohiko Kimura, Takashi Itoh, Shigehito Mori, Taku Sasaki, Mana Ohnishi, Haruka Takenouchi, Hideyuki Iwamoto, Junpei Sanada, Yoshiro Fushimi, Yukino Katakura, Fuminori Tatsumi, Masashi Shimoda, Shuhei Nakanishi, Tomoatsu Mune, Kohei Kaku, Hideaki Kaneto

{"title":"Clinical findings of acute necrotizing esophagitis complicated by diabetic ketoacidosis.","authors":"Yuichiro Iwamoto, Tomohiko Kimura, Takashi Itoh, Shigehito Mori, Taku Sasaki, Mana Ohnishi, Haruka Takenouchi, Hideyuki Iwamoto, Junpei Sanada, Yoshiro Fushimi, Yukino Katakura, Fuminori Tatsumi, Masashi Shimoda, Shuhei Nakanishi, Tomoatsu Mune, Kohei Kaku, Hideaki Kaneto","doi":"10.1507/endocrj.EJ23-0516","DOIUrl":"10.1507/endocrj.EJ23-0516","url":null,"abstract":"Acute necrotizing esophagitis (ANE) is a rare and potentially life-threatening complication of diabetic ketoacidosis (DKA). While its association with DKA is established, specific clinical characteristics that predict ANE in DKA patients remain less understood. This study aimed to identify these characteristics by analyzing data from 30 DKA patients admitted from January 2018 to September 2022. Seven patients in this study presented with ANE, forming the ANE group. The remaining 23 constituted the non-ANE group. We compared the clinical parameters and computed tomography (CT) between the groups. The mean age of participants was 57.7 ± 20.4 years, and their mean HbA1c was 11.1 ± 3.3%. Notably, ethanol intake was significantly higher in the ANE group (44.4 ± 25.4 g/day) compared to the non-ANE group (6.8 ± 14.0 g/day; p = 0.013). Additionally, sodium-glucose transport protein 2 inhibitor use was significantly more prevalent in the ANE group (p = 0.013). Gastrointestinal symptoms were also significantly more pronounced in the ANE group, with vomiting occurring in 85.7% of patients compared to only 13.0% in the non-ANE group. Admission CT scans revealed further distinguishing features, with the ANE group showing significantly higher rates of esophageal wall thickening, intra-esophageal effusion, and calcification of the celiac artery origin (p < 0.0001, 0.0038, 0.0038, respectively). In conclusion, our study suggests that heavy alcohol consumption and strong gastrointestinal symptoms in DKA patients warrant a heightened suspicion of ANE. Early consideration of CT or upper gastrointestinal endoscopy is recommended in such cases.","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140049016","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}

引用次数: 0

An essential reference to be incorporated in the article: Inhibitory effects of estetrol on the invasion and migration of immortalized human endometrial stromal cells. 应纳入文章的重要参考文献：雌三醇对永生化人子宫内膜基质细胞侵袭和迁移的抑制作用。

IF 2 4区医学

Endocrine journal Pub Date : 2024-05-23 Epub Date: 2024-05-14 DOI: 10.1507/endocrj.EJ24-0181

Renan Orellana-Walden, Daniel Patiño-García

引用次数: 0

Primary aldosteronism patients with previous cardiovascular and cerebrovascular events have high aldosterone responsiveness to ACTH stimulation. 曾发生过心脑血管事件的原发性醛固酮增多症患者对促肾上腺皮质激素刺激的醛固酮反应性很高。

IF 2 4区医学

Endocrine journal Pub Date : 2024-05-23 Epub Date: 2024-03-14 DOI: 10.1507/endocrj.EJ23-0659

Eriko Nakano, Kosuke Mukai, Atsunori Fukuhara, Michio Otsuki, Iichiro Shimomura, Takamasa Ichijo, Mika Tsuiki, Norio Wada, Takashi Yoneda, Yoshiyu Takeda, Kenji Oki, Tetsuya Yamada, Yoshihiro Ogawa, Daisuke Yabe, Miki Kakutani, Masakatsu Sone, Takuyuki Katabami, Akiyo Tanabe, Mitsuhide Naruse

{"title":"Primary aldosteronism patients with previous cardiovascular and cerebrovascular events have high aldosterone responsiveness to ACTH stimulation.","authors":"Eriko Nakano, Kosuke Mukai, Atsunori Fukuhara, Michio Otsuki, Iichiro Shimomura, Takamasa Ichijo, Mika Tsuiki, Norio Wada, Takashi Yoneda, Yoshiyu Takeda, Kenji Oki, Tetsuya Yamada, Yoshihiro Ogawa, Daisuke Yabe, Miki Kakutani, Masakatsu Sone, Takuyuki Katabami, Akiyo Tanabe, Mitsuhide Naruse","doi":"10.1507/endocrj.EJ23-0659","DOIUrl":"10.1507/endocrj.EJ23-0659","url":null,"abstract":"Aldosterone secretion in primary aldosteronism (PA) is often regulated by adrenocorticotropic hormone (ACTH) in addition to its autonomous secretion. However, the clinical characteristics and risk of cardiovascular and cerebrovascular (CCV) events in PA patients with aldosterone responsiveness to ACTH stimulation remain unclear. This study aimed to investigate the prevalence of CCV events in PA patients with high aldosterone responsiveness to ACTH stimulation. A retrospective cross-sectional study was conducted as part of the Japan Primary Aldosteronism Study/Japan Rare Intractable Adrenal Disease project. PA patients with adrenal venous sampling (AVS) between January 2006 and March 2019 were enrolled. The ACTH-stimulated plasma aldosterone concentration (PAC) of the inferior vena cava during AVS was used to evaluate aldosterone responsiveness to ACTH. We analyzed the relationship between responsiveness and previous CCV events. Logistic regression analysis demonstrated that the ΔPAC (the difference between the PAC measurements before and after ACTH stimulation) significantly increased the odds of previous CCV events in PA patients after adjusting for classical CCV event risk factors, baseline PAC and duration of hypertension (relative PAC: odds ratio [OR], 2.896; 95% confidence interval [CI], 0.989-8.482; ΔPAC: OR, 2.344; 95% CI, 1.149-4.780; ACTH-stimulated PAC: OR, 2.098; 95% CI, 0.694-6.339). This study clearly demonstrated that aldosterone responsiveness to ACTH is closely related to previous CCV events. The responsiveness of the PAC to ACTH could be useful in predicting CCV event risk.Registration Number in UMIN-CTR is UMIN000032525.","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140119111","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}

引用次数: 0

Genetic and biochemical analysis of severe hypertriglyceridemia complicated with acute pancreatitis or with low post-heparin lipoprotein lipase mass. 并发急性胰腺炎或肝素后脂蛋白脂肪酶质量低的严重高甘油三酯血症的遗传和生化分析。

IF 2 4区医学

Endocrine journal Pub Date : 2024-05-23 Epub Date: 2024-02-09 DOI: 10.1507/endocrj.EJ23-0438

Takashi Suzuki, Makoto Kurano, Akari Isono, Takuya Uchino, Yohei Sayama, Honami Tomomitsu, Daiki Mayumi, Ruriko Shibayama, Toru Sekiguchi, Naoki Edo, Kiyoko Uno-Eder, Kenji Uno, Koji Morita, Toshio Ishikawa, Kazuhisa Tsukamoto

{"title":"Genetic and biochemical analysis of severe hypertriglyceridemia complicated with acute pancreatitis or with low post-heparin lipoprotein lipase mass.","authors":"Takashi Suzuki, Makoto Kurano, Akari Isono, Takuya Uchino, Yohei Sayama, Honami Tomomitsu, Daiki Mayumi, Ruriko Shibayama, Toru Sekiguchi, Naoki Edo, Kiyoko Uno-Eder, Kenji Uno, Koji Morita, Toshio Ishikawa, Kazuhisa Tsukamoto","doi":"10.1507/endocrj.EJ23-0438","DOIUrl":"10.1507/endocrj.EJ23-0438","url":null,"abstract":"Severe hypertriglyceridemia is a pathological condition caused by genetic factors alone or in combination with environmental factors, sometimes leading to acute pancreatitis (AP). In this study, exome sequencing and biochemical analyses were performed in 4 patients with hypertriglyceridemia complicated by obesity or diabetes with a history of AP or decreased post-heparin LPL mass. In a patient with a history of AP, SNP rs199953320 resulting in LMF1 nonsense mutation and APOE rs7412 causing apolipoprotein E2 were both found in heterozygous form. Three patients were homozygous for APOA5 rs2075291, and one was heterozygous. ELISA and Western blot analysis of the serum revealed the existence of apolipoprotein A-V in the lipoprotein-free fraction regardless of the presence or absence of rs2075291; furthermore, the molecular weight of apolipoprotein A-V was different depending on the class of lipoprotein or lipoprotein-free fraction. Lipidomics analysis showed increased serum levels of sphingomyelin and many classes of glycerophospholipid; however, when individual patients were compared, the degree of increase in each class of phospholipid among cases did not coincide with the increases seen in total cholesterol and triglycerides. Moreover, phosphatidylcholine, lysophosphatidylinositol, and sphingomyelin levels tended to be higher in patients who experienced AP than those who did not, suggesting that these phospholipids may contribute to the onset of AP. In summary, this study revealed a new disease-causing gene mutation in LMF1, confirmed an association between overlapping of multiple gene mutations and severe hypertriglyceridemia, and suggested that some classes of phospholipid may be involved in the pathogenesis of AP.","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139722064","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}

引用次数: 0

Sleeve gastrectomy improves cardiac function and glucose-lipid metabolism disorder in obese rats induced by a high-fat and high-sugar diet. 袖带胃切除术可改善高脂高糖饮食诱导的肥胖大鼠的心脏功能和糖脂代谢紊乱。

IF 2 4区医学

Endocrine journal Pub Date : 2024-05-23 Epub Date: 2024-03-29 DOI: 10.1507/endocrj.EJ23-0567

Xiaojuan Li, Luming Qiao, Wei Wang, Ying Shi, Lei Yuan, Zhiwei Zhai

{"title":"Sleeve gastrectomy improves cardiac function and glucose-lipid metabolism disorder in obese rats induced by a high-fat and high-sugar diet.","authors":"Xiaojuan Li, Luming Qiao, Wei Wang, Ying Shi, Lei Yuan, Zhiwei Zhai","doi":"10.1507/endocrj.EJ23-0567","DOIUrl":"10.1507/endocrj.EJ23-0567","url":null,"abstract":"Obesity is affecting global health with multiple complications, including cardiac dysfunction. Currently, it is uncertain whether drug therapy should be applied in the early stages of obesity-induced cardiac dysfunction, with weight reduction as the first choice. Sleeve gastrectomy (SG) has been widely used to treat obesity and its complications, showing promising results. However, it remains unclear whether SG can alleviate obesity-induced cardiac dysfunction. A sudden decline in body weight and food intake was observed in both the obese and obese + SG groups, with a higher rate of increase observed in the Obese group. Elevated levels of plasma glucose, serum insulin, and glycated haemoglobin in obese rats were significantly reduced by SG. Markedly increased levels of alanine transaminase, aspartate transaminase, alkaline phosphatase albumin, total cholesterol, triglycerides, and low-density lipoprotein cholesterol levels, elevated values of heart rate, left ventricular end-systolic pressure, left ventricular end-diastolic pressure, systolic pressure, and end diastolic pressure, and decreased value of stroke volume were observed in obese rats, which were sharply reversed by SG. Furthermore, enhanced pathological changes, including inflammatory cell infiltration and loss of cytoplasm striations, enhanced oil red O staining, increased TUNEL-positive cells, upregulated Bax and cleaved-caspase-3, and downregulated Bcl-2, were observed in obese rats, which were notably alleviated by SG. Lastly, the increased levels of relative proteins observed in obese rats were significantly reduced by SG. In conclusion, SG improved cardiac function and glucose-lipid metabolism disorders in obese rats induced by a high-fat and high-sugar diet.","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140331608","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}

引用次数: 0

Plasma prolactin axis shift from placental to pituitary origin in late prepartum mice 产前晚期小鼠血浆催乳素轴从胎盘向垂体转移

IF 2 4区医学

Endocrine journal Pub Date : 2024-05-14 DOI: 10.1507/endocrj.ej23-0724

Taku James Sairenji, Shinnosuke Masuda, Yuya Higuchi, Mitsue Miyazaki, Hiroyuki Yajima, Oh Kwan Ee, Yuki Fujiwara, Takuya Araki, Noriaki Shimokawa, Noriyuki Koibuchi

{"title":"Plasma prolactin axis shift from placental to pituitary origin in late prepartum mice","authors":"Taku James Sairenji, Shinnosuke Masuda, Yuya Higuchi, Mitsue Miyazaki, Hiroyuki Yajima, Oh Kwan Ee, Yuki Fujiwara, Takuya Araki, Noriaki Shimokawa, Noriyuki Koibuchi","doi":"10.1507/endocrj.ej23-0724","DOIUrl":"https://doi.org/10.1507/endocrj.ej23-0724","url":null,"abstract":"The placenta secretes a prolactin (PRL)-like hormone PRL3B1 (placental lactogen II), a luteotropic hormone essential for maintaining pregnancy until labor in mice. A report from 1984 examined the secretion pattern of PRL3B1 in prepartum mice. In the current study, we found contradictory findings in the secretion pattern that invalidate the previous report. By measuring maternal plasma PRL3B1 and PRL every 4 hrs from gestational day 17 (G17), we newly discovered that maternal plasma PRL3B1 levels decrease rapidly in prepartum C57BL/6 mice. Interestingly, the onset of this decline coincided with the PRL surge at G18, demonstrating a plasma prolactin axis shift from placental to pituitary origin. We also found that maternal plasma progesterone regression precedes the onset of the PRL shift. The level of Prl3b1 mRNA was determined by RT-qPCR in the placenta and remained stable until parturition, implying that PRL3B1 peptide production or secretion was suppressed. We hypothesized that production of the PRL family, the 25 paralogous PRL proteins exclusively expressed in mice placenta, would decrease alongside PRL3B1 during this period. To investigate this hypothesis and to seek proteomic changes, we performed a shotgun proteome analysis of the placental tissue using data-independent acquisition mass spectrometry (DIA-MS). Up to 5,891 proteins were identified, including 17 PRL family members. Relative quantitative analysis between embryonic day 17 (E17) and E18 placentas showed no significant difference in the expression of PRL3B1 and most PRL family members except PRL7C1. These results suggest that PRL3B1 secretion from the placenta is suppressed at G18 (E18).\u0000","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140925768","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}

引用次数: 0

Dose-dependent incidence of agranulocytosis in patients treated with methimazole and propylthiouracil 甲巯咪唑和丙基硫氧嘧啶治疗患者粒细胞减少症的发生率与剂量有关

IF 2 4区医学

Endocrine journal Pub Date : 2024-05-03 DOI: 10.1507/endocrj.ej24-0135

Jaeduk Yoshimura Noh, Kosuke Inoue, Nami Suzuki, Ai Yoshihara, Miho Fukushita, Masako Matsumoto, Hideyuki Imai, Shigenori Hiruma, Masahiro Ichikawa, Masakazu Koshibu, Akiko Sankoda, Rei Hirose, Natsuko Watanabe, Kiminori Sugino, Koichi Ito

{"title":"Dose-dependent incidence of agranulocytosis in patients treated with methimazole and propylthiouracil","authors":"Jaeduk Yoshimura Noh, Kosuke Inoue, Nami Suzuki, Ai Yoshihara, Miho Fukushita, Masako Matsumoto, Hideyuki Imai, Shigenori Hiruma, Masahiro Ichikawa, Masakazu Koshibu, Akiko Sankoda, Rei Hirose, Natsuko Watanabe, Kiminori Sugino, Koichi Ito","doi":"10.1507/endocrj.ej24-0135","DOIUrl":"https://doi.org/10.1507/endocrj.ej24-0135","url":null,"abstract":"Agranulocytosis is a serious adverse effect of methimazole (MMI) and propylthiouracil (PTU), and although there have been reports suggesting a dose-dependent incidence in relation to both drugs, the evidence has not been conclusive. The objective of our study was to determine whether the incidences of agranulocytosis induced by MMI and PTU exhibit dose-dependency. The subjects were 27,784 patients with untreated Graves’ disease, 22,993 of whom were on an antithyroid drug treatment regimen for more than 90 days. Within this subset, 18,259 patients had been treated with MMI, and 4,734 had been treated with PTU. The incidence of agranulocytosis according to dose in the MMI group was 0.13% at 10 mg/day, 0.20% at 15 mg/day, 0.32% at 20 mg/day, and 0.47% at 30 mg/day, revealing a significant dose-dependent increase. In the PTU group, there were 0 cases of agranulocytosis at doses of 125 mg/day and below, 0.33% at 150 mg/day, 0.31% at 200 mg/day, and 0.81% at 300 mg/day, also revealing a significant dose-dependent increase. The incidence of agranulocytosis at MMI 15 mg and PTU 300 mg, i.e., at the same potency in terms of hormone synthesis inhibition, was 0.20% and 0.81%, respectively, and significantly higher in the PTU group. Our findings confirm a dose-dependent increase in the incidence of agranulocytosis with both drugs, but that at comparable thyroid hormone synthesis inhibitory doses PTU has a considerably higher propensity to induce agranulocytosis than MMI does.\u0000","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140837291","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}

引用次数: 0

Clinical characteristics of and growth hormone treatment effects on short stature with type 1 insulin-like growth factor receptor (IGF1R) gene alteration 1 型胰岛素样生长因子受体 (IGF1R) 基因改变患者的临床特征及生长激素治疗对矮身材的影响

IF 2 4区医学

Endocrine journal Pub Date : 2024-05-03 DOI: 10.1507/endocrj.ej23-0680

Yuki Kawashima-Sonoyama, Keisuke Wada, Kei Yamamoto, Masanobu Fujimoto, Noriyuki Namba, Takeshi Taketani

{"title":"Clinical characteristics of and growth hormone treatment effects on short stature with type 1 insulin-like growth factor receptor (IGF1R) gene alteration","authors":"Yuki Kawashima-Sonoyama, Keisuke Wada, Kei Yamamoto, Masanobu Fujimoto, Noriyuki Namba, Takeshi Taketani","doi":"10.1507/endocrj.ej23-0680","DOIUrl":"https://doi.org/10.1507/endocrj.ej23-0680","url":null,"abstract":"Short stature with IGF-1 receptor (IGF1R) gene alteration is known as small-for-gestational-age (SGA) short stature with elevated serum IGF1 levels. Its prevalence and clinical characteristics remain unclear. No adapted treatment is available for short stature related to IGF1R gene alteration in Japan, and genetic testing is not yet widely accessible. We investigated short stature with IGF1R gene alterations and analyzed the clinical data of 13 patients using the results of questionnaires issued to the Japanese Society for Pediatric Endocrinology. Four cases were caused by a deletion of chromosome 15q26.3, and eight were caused by heterozygous pathogenic variants in the IGF1R gene. Cases with deletions showed a more severe degree of growth impairment (–4.5 ± 0.43 SD) than those caused by pathological variants (–2.71 ± 0.15 SD) and were accompanied by neurodevelopmental delay. However, cases caused by pathological variants lacked distinctive features. Only three of the 12 cases demonstrated serum IGF1 values exceeding +2 SD, and the other three had values below 0 SD. Four patients did not meet the criteria for SGA at birth. Six patients received GH therapy for SGA short stature and showed improvement in growth rate without any side effects or elevated serum IGF1 levels during treatment. Elevated IGF1 levels (over +2 SD) after GH treatment should be considered a suspicious finding. Owing to the lack of distinctive features, there was a possibility of undiagnosed cases of this condition. Promoting genetic testing and clinical trials on GH administration for this condition is recommended.\u0000","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140837498","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}

引用次数: 0

A case of hypophysitis after COVID-19 vaccination with a detection of anti-pituitary antibody, with review of literature 一例接种 COVID-19 疫苗后出现的肾上腺皮质功能减退并检测到抗垂体抗体的病例，附文献综述

IF 2 4区医学

Endocrine journal Pub Date : 2024-05-03 DOI: 10.1507/endocrj.ej24-0061

Chika Kyo, Tomoko Kobayashi, Shintaro Iwama, Rieko Kosugi, Fumikazu Sawabe, Ryo Hayafusa, Yuki Sakai, Tatsuo Ogawa, Masato Kotani, Tatsuhide Inoue, Hiroshi Arima, Hiroyuki Ariyasu

{"title":"A case of hypophysitis after COVID-19 vaccination with a detection of anti-pituitary antibody, with review of literature","authors":"Chika Kyo, Tomoko Kobayashi, Shintaro Iwama, Rieko Kosugi, Fumikazu Sawabe, Ryo Hayafusa, Yuki Sakai, Tatsuo Ogawa, Masato Kotani, Tatsuhide Inoue, Hiroshi Arima, Hiroyuki Ariyasu","doi":"10.1507/endocrj.ej24-0061","DOIUrl":"https://doi.org/10.1507/endocrj.ej24-0061","url":null,"abstract":"COVID-19 vaccines have resulted in a remarkable reduction in both the morbidity and mortality associated with COVID-19. However, there are reports of endocrine rare clinical conditions linked to COVID-19 vaccination. In this report, we present a case of hypophysitis following COVID-19 vaccination and review the literature on this condition. This case involved a 72-year-old male with type 1 diabetes who experienced symptoms such as vomiting, appetite loss, and headaches following his fifth COVID-19 vaccine dose. He was diagnosed with secondary adrenal insufficiency; subsequent assessment revealed an enlarged pituitary gland. Unlike previous cases, our patient has partial recovery from pituitary insufficiency, and his pituitary function gradually improved over time. Anti-pituitary antibodies (APAs) against corticotrophs, thyrotrophs, gonadotrophs, and folliculo stellate cells (FSCs) were detected in serum samples taken 3 months after onset. Hypophysitis after COVID-19 vaccination is a rare clinical condition, with only eight cases reported by the end of 2023, most occurring after the initial or second vaccination. Symptoms of hypophysitis after COVID-19 vaccination are similar to those of classic pituitary dysfunction. Pituitary insufficiency is persistent, with five of the above eight patients presenting posterior pituitary dysfunction and three patients presenting only anterior pituitary dysfunction. Two of those eight patients had autoimmune diseases. Our case suggests a potential link between acquired immunity, APA production, and pituitary damage. To elucidate the etiology of hypophysitis associated with COVID-19 vaccination, detailed investigation of patients with nonspecific symptoms after vaccination against COVID-19 is necessary.\u0000","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140837483","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}

引用次数: 0