Endocrine journal最新文献

{"title":"Metachronous multiple insulinomas in oculo-facio-cardio-dental syndrome harboring a novel BCOR deletion: a case report with review of literature.","authors":"Shinsuke Noso, Hiroki Miki, Yoshihisa Hiromine, Naru Babaya, Yasunori Taketomo, Sawa Yoshida, Katsuya Ami, Ippei Matsumoto, Norikazu Maeda","doi":"10.1507/endocrj.EJ26-0090","DOIUrl":"10.1507/endocrj.EJ26-0090","url":null,"abstract":"<p><p>Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked dominant disorder caused by pathogenic variants in the BCOR gene and is characterized by distinctive craniofacial, ocular, cardiac, and dental abnormalities. Although OFCD syndrome is a well-defined developmental disorder, its association with endocrine tumors has not been clearly established. We report a female patient with genetically confirmed OFCD syndrome harboring a novel heterozygous deletion in BCOR who developed metachronous multiple insulinomas. The patient presented with recurrent hypoglycemic episodes, and pancreatic neuroendocrine tumors were detected at different time points, necessitating repeated surgical interventions. Histopathological examination confirmed insulinoma in each resected lesion. Comprehensive clinical and pathological evaluations revealed no features suggestive of other known hereditary insulinoma-associated syndromes, including multiple endocrine neoplasia type 1. Previous reports have described either recurrent insulinoma without genetic confirmation of OFCD syndrome or multiple insulinomas without documented recurrence in genetically confirmed cases. In contrast, the present case uniquely demonstrates metachronous development of multiple insulinomas in association with a novel BCOR deletion. Given the role of BCOR in transcriptional repression and developmental regulation, this case suggests a potential contribution of BCOR dysfunction to pancreatic neuroendocrine tumorigenesis. Our findings expand the phenotypic and genotypic spectrum of OFCD syndrome and underscore the importance of long-term surveillance and further accumulation of cases to clarify tumor predisposition in this rare disorder.</p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":"1155-1161"},"PeriodicalIF":2.5,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13671837/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148293749","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":"Effect of social jetlag on metabolic syndrome varies by body mass index: evidence from Taiwan Biobank.","authors":"Shih-Kai Kao, Kai-Hsuan Cheng, Jerry Cheng-Yen Lai, Shaw-Ji Chen, Meng-Ying Lu","doi":"10.1507/endocrj.EJ26-0018","DOIUrl":"10.1507/endocrj.EJ26-0018","url":null,"abstract":"<p><p>Social jetlag (SJL), the misalignment between biological and social time, has been linked to adverse metabolic outcomes. However, the effect of body mass index (BMI) on this association remains unclear, particularly in Asian populations. This cross-sectional study utilized data from the Taiwan Biobank, including 65,832 adults with complete information on sleep timing and metabolic parameters. SJL was calculated as the difference in mid-sleep time between workdays and free days and categorized as <2 or ≥2 h. Metabolic syndrome (MetS) was defined using standard clinical criteria. Multivariable logistic regression models were used to examine the association between SJL and MetS, with stepwise adjustment for sociodemographic, lifestyle, and clinical factors. Additional analyses stratified participants into BMI categories (<24, 24-26.9, ≥27 kg/m²). After full adjustment including BMI, SJL ≥2 h was not significantly associated with MetS (adjusted odds ratio = 1.05, 95% confidence interval: 0.98-1.12; p = 0.180). In BMI-stratified analyses, a significant association was observed only in the overweight group (BMI 24-26.9 kg/m²; adjusted odds ratio = 1.12, 95% confidence interval: 1.01-1.24; p = 0.035), but not in normal-weight or obese groups. An association between SJL and MetS was observed only in the overweight group, suggesting a BMI-dependent association between SJL and MetS. These findings highlight the importance of considering BMI when evaluating the association between SJL and MetS and indicate that the relationship between circadian misalignment and metabolic risk may vary across BMI categories.</p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":"1107-1115"},"PeriodicalIF":2.5,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13671840/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148137065","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":"Associations of stress hormones, autonomic function, and endothelial function in patients with diabetes.","authors":"Takanobu Saheki, Keisuke Takahashi, Eri Harada, Takafumi Yoshimura, Toshihiro Kobayashi, Kensaku Fukunaga, Hitomi Imachi, Koji Murao","doi":"10.1507/endocrj.EJ26-0067","DOIUrl":"10.1507/endocrj.EJ26-0067","url":null,"abstract":"<p><p>Endothelial dysfunction is an early feature of diabetic vascular injury. Stress-induced activation of the hypothalamic-pituitary-adrenal (HPA) axis, together with autonomic imbalance, may contribute to endothelial dysfunction. However, its clinical relevance in diabetes remains to be fully elucidated. We retrospectively analyzed 60 patients with diabetes who underwent both flow-mediated dilation (FMD) of the brachial artery and the coefficient of variation of the R-R interval (CVRR) measurements. The primary objective was to examine the association between FMD and stress-related hormones, including adrenocorticotropic hormone (ACTH) and cortisol. The secondary objective was to evaluate the association with autonomic function (CVRR) and other clinical variables. Mean FMD was 5.10 ± 2.32%. FMD correlated inversely with ACTH (r = -0.41, p = 0.0015) and cortisol (r = -0.39, p = 0.0024), and positively with CVRR (r = 0.49, p < 0.001). These relationships were stronger in patients with BMI ≥27 kg/m², among whom the correlation between FMD and ACTH was particularly pronounced (r = -0.68, p = 0.0007). No significant associations were found between FMD and hemoglobin A1c or other lipid parameters. Given the cross-sectional design, these findings indicated associations rather than causality. Our results suggest that the HPA axis activity and autonomic function may be associated with endothelial dysfunction in diabetes, particularly in individuals with a higher BMI. This study was registered in the UMIN Clinical Trials Registry (UMIN-CTR; UMIN000060540).</p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":"1117-1126"},"PeriodicalIF":2.5,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13671839/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148344338","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":"Recurrent Cushing's disease due to postoperative seeding of tumor cells in the sphenoid sinus: a case report with review of the literature.","authors":"Tatsuma Matsuda, Noriaki Fukuhara, Masahiko Tosaka, Kentaro Horiguchi, Yoshinori Higuchi, Hiroshi Nishioka","doi":"10.1507/endocrj.EJ26-0008","DOIUrl":"10.1507/endocrj.EJ26-0008","url":null,"abstract":"<p><p>Recurrent Cushing's disease is most commonly caused by residual or newly developed pituitary neuroendocrine tumor (PitNET) tissue within the sellar region. Extrasellar recurrence due to postoperative tumor cell seeding is exceedingly rare. We report the unique case of a 30-year-old woman who achieved endocrine remission after gross total resection of an ACTH-secreting PitNET but later developed biochemical and clinical recurrence without radiological evidence of a sellar lesion. Despite long-term medical therapy including cabergoline, metyrapone, and pasireotide, the hypercortisolism gradually progressed. Nearly 10 years after the initial surgery, a reoperation was performed to explore the occult tumor. Intraoperatively, a small soft tumor attached to the posterior surface of the anterior wall of the sphenoid sinus was discovered. Histopathological examination confirmed the presence of a recurrent corticotrophic PitNET. A retrospective review of CT, MRI, and octreotide scintigraphy revealed a subtle lesion that had previously been overlooked. Complete resection resulted in an immediate endocrine remission. This case demonstrates that recurrent Cushing's disease may, although rarely, arise from the implantation of tumor cells that drop into the sphenoid sinus during transsphenoidal surgery. Awareness of this mechanism is crucial for evaluating MRI-negative recurrences. Careful inspection of the sphenoid sinus and meticulous irrigation during surgery may help prevent iatrogenic seeding and improve long-term outcomes.</p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":"1147-1153"},"PeriodicalIF":2.5,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13671835/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148217013","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":"Physical disability and quality-of-life burden in McCune-Albright syndrome: a nationwide survey in Japan.","authors":"Hironori Shibata, Tomohiro Ishii, Keiichi Ozono, Tomonobu Hasegawa","doi":"10.1507/endocrj.EJ26-0366","DOIUrl":"https://doi.org/10.1507/endocrj.EJ26-0366","url":null,"abstract":"<p><p>McCune-Albright syndrome (MAS) is a rare mosaic disorder caused by somatic gain-of-function variants in GNAS and frequently associated with fibrous dysplasia (FD). FD-related complications impair physical function and quality of life (QOL), yet Japanese data are lacking. We conducted a nationwide survey to characterize functional impairment and physician-perceived QOL factors in patients with MAS in Japan. Data on 43 patients were collected using a web-based questionnaire sent to council members of the Japanese Society for Pediatric Endocrinology and the Japanese Society for Bone and Mineral Research. Motor disability was assessed using the Japanese version of the modified Rankin Scale (mRS); respiratory, visual, and hearing impairments were graded using the Japanese severity criteria for designated intractable diseases. Physicians identified the single factor perceived as most affecting each patient's QOL. Motor impairment was present in 72.1%, including moderate or severe impairment (mRS ≥3) in 30.2%; other impairments were each absent in more than 80%. The most frequent QOL-affecting factor was bone pain or fractures (37.2%), followed by facial deformity or appearance changes (18.6%) and mobility or physical activity limitation (16.3%). Physician-perceived QOL factors differed by mRS group (p < 0.001): bone pain and facial deformity predominated in patients with mRS <3, whereas mobility limitation predominated in those with mRS ≥3. These findings indicate that FD-related skeletal manifestations are a major source of disability and QOL burden in Japanese patients with MAS, supporting stratified management tailored to motor disability.</p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149105735","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":"Renal function trajectories before and during the COVID-19 pandemic in Japanese individuals with type 1 diabetes: a post-hoc analysis of the multicenter retrospective investigation by the IPRA-CKD study group.","authors":"Yuta Nakamura, Hiroshi Yano, Norio Abiru, Hiroshi Nomoto, Tomoyasu Fukui, Yoshihiko Yuyama, Tomoyuki Kawamura, Mariko Ueda, Akane Yamamoto, Yushi Hirota, Yoshiki Kusunoki, Kenro Nishida, Dan Sekiguchi, Yasutaka Maeda, Masae Minami, Ayako Nagayama, Shimpei Iwata, Hitomi Minagawa, Shinya Furukawa, Teruki Miyake, Hiroaki Ueno, Rei Chinen, Yoshiro Nakayama, Hiroaki Masuzaki, Yasutaka Miyachi, Yosuke Okada, Mitsuhiro Okamoto, Kaoru Ono, Ken-Ichi Tanaka, Akira Kurozumi, Takenori Sakai, Hironori Yamasaki, Jun-Ichi Yasui, Ayako Ito, Ichiro Horie","doi":"10.1507/endocrj.EJ26-0257","DOIUrl":"https://doi.org/10.1507/endocrj.EJ26-0257","url":null,"abstract":"<p><p>The coronavirus disease 2019 (COVID-19) pandemic and associated lifestyle changes have affected metabolic status in individuals with diabetes. The impact of these changes on renal function in individuals with type 1 diabetes (T1D) remains unclear. We performed a post-hoc analysis of a multicenter retrospective cohort study (the IPRA-CKD study) including 190 Japanese individuals with T1D who were not receiving sodium-glucose cotransporter 2 inhibitors. Participants were recruited between June 2022 and July 2023, and longitudinal data over a consecutive 60-month period preceding enrollment were extracted at 6-month intervals and divided into periods before and during the pandemic. Annual rates of estimated glomerular filtration rate (eGFR) decline were compared between the periods before and during the COVID-19 pandemic using a linear mixed-effects model. The eGFR decline was not accelerated during the pandemic compared with before the pandemic; the estimated eGFR slopes were -1.54 ± 0.28 mL/min/1.73 m²/year before the pandemic and -1.05 ± 0.22 mL/min/1.73 m²/year during the pandemic (p = 0.27). Glycemic control was preserved during the pandemic, despite small but significant increases in body weight, blood pressure, and insulin dose. Exploratory subgroup analyses suggested a less steep eGFR decline during the pandemic among participants with body mass index ≥25 kg/m² or those receiving renin-angiotensin system inhibitors; however, these findings should be interpreted as hypothesis-generating. In this multicenter cohort of individuals with T1D, the COVID-19 pandemic was not associated with accelerated eGFR decline overall.Clinical Trial Registry (CTR) registration: UMIN-CTR000047441.</p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149105760","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":"Real-world effectiveness and safety of low-dose tirzepatide in Japanese people with type 2 diabetes: a multicenter, retrospective, single-arm, observational study-East Shizuoka Tirzepatide (ESTATE) study.","authors":"Tatsuya Iwamoto, Nozomu Yamasaki, Shuko Nojiri, Wataru Urasaki, Katsumi Aso, Katsutoshi Komatsu, Naoko Enosawa, Marie Kanzaki, Daisuke Takarabe, Jo Nagakura, Ken Sato, Naoaki Ito, Hirotaka Watada, Takashi Nomiyama","doi":"10.1507/endocrj.EJ26-0274","DOIUrl":"https://doi.org/10.1507/endocrj.EJ26-0274","url":null,"abstract":"<p><p>The glucose-dependent insulinotropic polypeptide (GIP)/glucagon-like peptide-1 (GLP-1) receptor agonist tirzepatide is available clinically. Although real-world studies of tirzepatide in Japanese people with type 2 diabetes (T2D) have been reported, data regarding low-dose tirzepatide and patient-reported outcomes in routine clinical practice remain limited. In this multicenter retrospective observational study, we evaluated changes in glycemic control, body mass index (BMI), metabolic parameters, patient-reported outcomes, and adverse events after initiation of low-dose tirzepatide in Japanese people with T2D. Eighty-eight subjects with T2D treated with an average dose of tirzepatide of 4.5 ± 1.0 mg/week for 24 weeks were retrospectively analyzed. The primary outcomes were changes in glycated hemoglobin (HbA1c) and BMI from baseline to 24 weeks. HbA1c levels and BMI decreased over 24 weeks after initiation of low-dose tirzepatide (HbA1c, -1.5%; BMI, -1.5 kg/m²; both p < 0.001). Additionally, serum albumin was increased, and alanine transaminase and low-density lipoprotein cholesterol were decreased significantly. In multivariable regression analysis, higher baseline HbA1c was associated with greater HbA1c reduction. In exploratory cross-sectional analyses, post-treatment Diabetes Treatment Satisfaction Questionnaire (DTSQ) scores were associated with higher baseline HbA1c, and Kanden Institute Stigma Scale (KISS) scores were associated with higher baseline BMI. Major adverse events linked with tirzepatide were gastrointestinal symptoms. In this multicenter retrospective single-arm observational study, HbA1c and BMI decreased over 24 weeks after low-dose tirzepatide initiation in Japanese people with T2D. These findings suggest that low-dose tirzepatide may be a useful treatment option in selected patients in routine clinical practice, although causal inference is limited by the observational design and lack of a control group.Trial Registration: National University Hospital Medical Information Network (UMIN Clinical Trial Registry, UMIN000053671; approval date: March 1, 2024).</p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149105737","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":"Ependymal denudation in the fourth ventricle attenuates glucoprivic feeding without altering blood glucose and luteinizing hormone responses in female rats.","authors":"Marimo Sato, Fumie Magata, Hiroko Tsukamura, Fuko Matsuda","doi":"10.1507/endocrj.EJ26-0074","DOIUrl":"https://doi.org/10.1507/endocrj.EJ26-0074","url":null,"abstract":"<p><p>The hindbrain plays a critical role in regulating feeding, glucose metabolism, and reproductive function during malnutrition, and our previous studies suggest that hindbrain ependymal cells lining the fourth ventricle (4V) potentially contribute to the physiological responses to hindbrain glucoprivation. The present study aimed to examine the effects of 4V ependymal denudation on counterregulatory responses to hindbrain glucoprivation. Neuraminidase, an enzyme that induces ependymal denudation, was administered into the 4V of ovariectomized rats implanted with a silicone tube containing a negative feedback level of estradiol-17β (OVX + low E₂ rats) to generate an ependymal cell-disrupted model, whereas vehicle administration served as the control condition. Following 4V administration of neuraminidase or vehicle, OVX + low E₂ rats received 4V administration of 2-deoxy-D-glucose (2DG), a glucose utilization inhibitor, or xylose as an osmotic control, and food intake, blood glucose levels, and luteinizing hormone (LH) concentrations were measured. Administration of 2DG into the 4V increased food intake in control rats, whereas this response was absent in rats with ependymal denudation. In contrast, 4V administration of 2DG increased blood glucose levels and suppressed LH secretion in both control rats and rats with ependymal denudation. Taken together, these findings indicate that 4V ependymal cells may, at least in part, contribute to feeding responses during hindbrain glucoprivation.</p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149069125","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":"Burosumab-responsive micro tumor-induced osteomalacia caused by a 6-mm phosphaturic mesenchymal tumor of the femoral head: a case report with review of literature on small (≤10 mm) FGF23-producing tumors.","authors":"Norio Horiguchi, Kenichiro Okuno, Mari Arai-Uehara, Koki Irie, Masazumi Koike, Nozomi Matsumura, Hayato Ikota, Ayumi Ito, Yukako Hirayama, Kuniko Yoshida, Hiroko Sato, Nobuaki Ito, Eijiro Yamada, Keiko Kawai-Kowase","doi":"10.1507/endocrj.EJ26-0327","DOIUrl":"https://doi.org/10.1507/endocrj.EJ26-0327","url":null,"abstract":"<p><p>A woman in her thirties presented with progressive bone pain, muscle weakness, recurrent stress fractures, and delayed fracture healing. Laboratory investigations demonstrated hypophosphatemia, renal phosphate wasting, elevated fibroblast growth factor 23 (FGF23), and inappropriately low 1,25-dihydroxyvitamin D, leading to a diagnosis of FGF23-mediated tumor-induced osteomalacia (TIO) approximately one year after symptom onset. Bone scintigraphy demonstrated multiple fractures involving the ribs and pubic bones. [18F]-fluorodeoxyglucose positron emission tomography/computed tomography ([18F]-FDG PET/CT) identified mild uptake in the left femoral head/femoral neck region, and targeted magnetic resonance imaging (MRI) confirmed a well-defined 6-mm lesion with low signal intensity on T1- and T2-weighted images and high signal intensity on short tau inversion recovery images. Somatostatin receptor scintigraphy (SRS) showed no abnormal uptake. Systemic venous sampling (SVS) demonstrated elevated FGF23 levels in the left pelvic venous drainage region. CT-guided biopsy revealed a phosphaturic mesenchymal tumor (PMT) with FGF23 immunohistochemical positivity. Complete resection would likely have required hemiarthroplasty or total hip arthroplasty because of the tumor location, and the patient declined surgery. Burosumab was therefore initiated. At 24 weeks, serum phosphate increased from 1.5 to 4.1 mg/dL, alkaline phosphatase decreased from 145 to 100 U/L, generalized bone pain and gait disturbance improved markedly, pseudofracture-related uptake disappeared on bone scintigraphy, and lumbar-spine and femoral-neck bone mineral density (BMD) improved. This case shows that multimodal localization can identify micro-TIO lesions that may escape conventional strategies, and that FGF23 blockade can be clinically effective in a localized FGF23-positive 6-mm PMT when surgery is anatomically challenging or declined.</p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149069050","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":"Acquired generalized lipodystrophy complicated by fulminant type 1 diabetes mellitus: a case report with review of literature and immunological insights.","authors":"Toshitaka Sawamura, Shigehiro Karashima, Yuya Nishimoto, Ai Ohmori, Mitsuhiro Kometani, Takashi Yoneda","doi":"10.1507/endocrj.EJ26-0240","DOIUrl":"https://doi.org/10.1507/endocrj.EJ26-0240","url":null,"abstract":"<p><p>Acquired generalized lipodystrophy (AGL) is a rare disorder characterized by progressive loss of subcutaneous and visceral adipose tissue and severe metabolic disturbances, including diabetes mellitus (DM). Although AGL is typically associated with type 2 DM, clinical experience with patients affected by both AGL and Fulminant type 1 DM (FT1DM) remains limited. We report a case of a 50-year-old man with long-standing (4-year) FT1DM who developed AGL, with histopathological and immunological evaluation and long-term follow-up after metreleptin therapy. The patient presented with rapid deterioration of glycemic control and extreme insulin resistance, requiring a marked increase in insulin dose. Imaging studies revealed generalized loss of subcutaneous and visceral adipose tissue, and skin biopsy demonstrated marked adipose tissue atrophy with infiltration of CD3⁺ (cluster of differentiation 3) and CD8⁺ T lymphocytes. Notably, soluble interleukin-2 receptor (sIL-2R) levels remained persistently elevated for more than 12 months, suggesting sustained systemic T-cell activation. Although metreleptin therapy resulted in partial improvement in glycemic control, hemoglobin A1c (HbA1c) did not return to the pre-AGL level during follow-up. This case raises the possibility that persistent immune activation may contribute to insulin resistance beyond leptin deficiency in some patients with AGL.</p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149069509","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}