Endocrine journal最新文献_第3页

Rapid progression of β-cell dysfunction in a patient with glycogen storage disease type 1a complicated by diabetes: longitudinal assessment by serial OGTTs with a review of the literature. 1例1a型糖原储存病合并糖尿病患者β细胞功能障碍的快速进展：通过系列ogtt进行纵向评估并回顾文献

IF 2.5 4区医学

Endocrine journal Pub Date : 2026-09-18 DOI: 10.1507/endocrj.EJ26-0310

Tetsuro Niri, Ai Haraguchi, Ryoji Sato, Minori Kakita, Moeko Kubo, Ayaka Sako, Sumito Dateki, Norio Abiru, Atsushi Kawakami, Ichiro Horie

引用次数: 0

Favorable CGM metrics do not exclude SGLT2 inhibitor-associated euglycemic diabetic ketoacidosis: an educational case report with narrative review of literature. 有利的CGM指标不排除SGLT2抑制剂相关的血糖型糖尿病酮症酸中毒：一份教育病例报告和文献综述。

IF 2.5 4区医学

Endocrine journal Pub Date : 2026-09-16 DOI: 10.1507/endocrj.EJ26-0282

Miyuki Iwamoto, Shuji Hidaka, Takamasa Iwamoto, Hirotaka Shibata

{"title":"Favorable CGM metrics do not exclude SGLT2 inhibitor-associated euglycemic diabetic ketoacidosis: an educational case report with narrative review of literature.","authors":"Miyuki Iwamoto, Shuji Hidaka, Takamasa Iwamoto, Hirotaka Shibata","doi":"10.1507/endocrj.EJ26-0282","DOIUrl":"https://doi.org/10.1507/endocrj.EJ26-0282","url":null,"abstract":"Sodium-glucose cotransporter 2 inhibitors (SGLT2i) carry a risk of euglycemic diabetic ketoacidosis (euDKA) during acute illness. We report an educational case of a 45-year-old man with type 1 diabetes (T1D) receiving ipragliflozin who developed severe euDKA precipitated by COVID-19. During this sick-day period, he independently discontinued basal insulin-partly because his continuous glucose monitoring (CGM) readings remained within the target range-while continuing ipragliflozin. He presented to the emergency department with worsening gastrointestinal symptoms. On arrival, although blood glucose was 246 mg/dL, venous blood gas revealed severe metabolic acidosis (pH 7.040, HCO3- 9.6 mmol/L) and 3+ urinary ketones. Remarkably, CGM data for the 48 hours prior to ambulance arrival showed a time in range of 71%, indicating clinically acceptable glycemic control. Quantitative analysis confirmed minimal glycemic variability (coefficient of variation 15.8%; mean amplitude of glycemic excursions 77 mg/dL). To our knowledge, this is one of the first reports to quantitatively characterize CGM data, demonstrating that favorable CGM metrics do not preclude a metabolic crisis. Although reimbursement for self-monitoring of blood ketones (SMBK) for patients with T1D receiving SGLT2i has been introduced in Japan, National Database reports reveal limited utilization and structural barriers, such as restrictions on test strip supplies. While promoting SMBK is important, the concept of euDKA remains difficult for patients to grasp. Therefore, clinicians must prioritize symptom-based sick-day rules over \"normal\" glucose numbers to prevent false reassurance from clinically acceptable CGM metrics. This case underscores the inherent limitations of glucose-centric monitoring and the necessity of multifaceted patient education.","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148982318","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

Teprotumumab for dysthyroid optic neuropathy: early functional and structural improvement in a retrospective case series. Teprotumumab治疗甲状腺功能障碍视神经病变：回顾性病例系列的早期功能和结构改善。

IF 2.5 4区医学

Endocrine journal Pub Date : 2026-09-16 DOI: 10.1507/endocrj.EJ26-0321

Ai Kozaki, Rishu Inoue, Natsuko Watanabe, Nobuyuki Sato, Shunsuke Kawaguchi, Koichiro Wasano, Koichi Nishiyama, Koichi Ito, Toshu Inoue

{"title":"Teprotumumab for dysthyroid optic neuropathy: early functional and structural improvement in a retrospective case series.","authors":"Ai Kozaki, Rishu Inoue, Natsuko Watanabe, Nobuyuki Sato, Shunsuke Kawaguchi, Koichiro Wasano, Koichi Nishiyama, Koichi Ito, Toshu Inoue","doi":"10.1507/endocrj.EJ26-0321","DOIUrl":"https://doi.org/10.1507/endocrj.EJ26-0321","url":null,"abstract":"Dysthyroid optic neuropathy (DON) is a severe, vision-threatening manifestation of thyroid eye disease. We conducted a retrospective descriptive case series of consecutive patients with DON treated with teprotumumab at a single center to evaluate functional, structural, magnetic resonance imaging (MRI)-based inflammatory, and safety outcomes. Six patients (10 eyes) were included. Eye-level outcomes were assessed at baseline and during follow-up using generalized estimating equations to account for within-patient correlation. The primary outcomes were best-corrected visual acuity (BCVA), expressed as logarithm of the minimum angle of resolution (logMAR) and summed cross-sectional area of the four rectus muscles (CSA). Secondary outcomes were proptosis and mean T2 signal intensity ratio (T2-SIR) of the four rectus muscles. Estimated marginal mean BCVA improved from 0.35 logMAR at baseline to 0.04 at 3 weeks, 0.05 at 12 weeks, and -0.08 at 24 weeks. Summed rectus CSA decreased from 2.11 cm2 at baseline to 1.48 cm2 at 12 weeks and 1.41 cm2 at 24 weeks. Proptosis and mean T2-SIR also decreased during follow-up. Most non-hearing-related adverse events were mild; however, treatment was discontinued in one patient because of diarrhea and in another because of fatigue and tinnitus. American Speech-Language-Hearing Association (ASHA)-defined hearing threshold shifts were identified in at least one ear in all six patients. These findings suggest that teprotumumab was associated with early concordant improvement across functional, anatomic, and MRI-based inflammatory endpoints in patients with DON. Careful monitoring, particularly audiologic assessment, remains essential.","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148982323","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

Association between fasting plasma glucose at diagnosis and large-for-gestational-age in Japanese women with gestational diabetes mellitus: Hamamatsu GRACE Study 6. 日本妊娠期糖尿病妇女诊断时空腹血糖与大胎龄之间的关系：Hamamatsu GRACE研究

IF 2.5 4区医学

Endocrine journal Pub Date : 2026-09-15 DOI: 10.1507/endocrj.EJ26-0368

Daisuke Tsuriya, Kei Takeshita, Yukino Toyama, Takuya Hashimoto, Ayumi Kanamoto, Teruki Miyake, Shinya Furukawa

{"title":"Association between fasting plasma glucose at diagnosis and large-for-gestational-age in Japanese women with gestational diabetes mellitus: Hamamatsu GRACE Study 6.","authors":"Daisuke Tsuriya, Kei Takeshita, Yukino Toyama, Takuya Hashimoto, Ayumi Kanamoto, Teruki Miyake, Shinya Furukawa","doi":"10.1507/endocrj.EJ26-0368","DOIUrl":"https://doi.org/10.1507/endocrj.EJ26-0368","url":null,"abstract":"Maternal high fasting plasma glucose (FPG) is a well-known risk factor for large-for-gestational-age (LGA) infants. However, this association remains unclear among Japanese women with gestational diabetes mellitus (GDM). Therefore, we examined this issue in Japanese women with GDM, accounting for body mass index (BMI). This retrospective study analyzed 543 Japanese women with GDM and evaluated the associations of 1-standard deviation (SD) increments in fasting, 1-hour, and 2-hour plasma glucose and HbA1c levels with LGA. LGA was defined as birth weight above the 90th percentile for gestational age. Multivariable logistic regression was used to estimate ORs and 95% CIs for LGA per 1-SD increment in fasting, 1-hour, and 2-hour plasma glucose and HbA1c. Model 1 was adjusted for maternal age, smoking, family history of diabetes, insulin use, parity, gestational age at delivery, gestational age at diagnosis, and gestational weight gain; Model 2 was additionally adjusted for pre-pregnancy BMI. The prevalence of LGA was 9.6%. In model 1, the FPG was independently and positively associated with LGA (adjusted OR 1.44, 95% CI: 1.07-1.94). The area under the receiver operating characteristic (ROC) curve for FPG in discriminating LGA was 0.692, with an optimal cutoff of 86.0 mg/dL. After additional adjustment for pre-pregnancy BMI (model 2), FPG was no longer associated with LGA. Other glycemic parameters were not associated with low birth weight, small-for-gestational-age, or LGA. FPG at GDM diagnosis may provide limited discriminatory information for LGA. However, its association with LGA was attenuated after adjustment for pre-pregnancy BMI.","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148982351","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

Tirzepatide for pasireotide-induced hyperglycemia in a GH/TSH-producing pituitary adenoma/PitNET: a case report and literature review. 替西肽治疗促GH/ tsh垂体腺瘤/PitNET中帕西肽诱导的高血糖：1例报告和文献复习。

IF 2.5 4区医学

Endocrine journal Pub Date : 2026-09-12 DOI: 10.1507/endocrj.EJ26-0396

Yuichiro Iwamoto, Kaoru Yamashita, Yasufumi Seki, Kosaku Amano, Atsuhiro Ichihara, Hideaki Kaneto

{"title":"Tirzepatide for pasireotide-induced hyperglycemia in a GH/TSH-producing pituitary adenoma/PitNET: a case report and literature review.","authors":"Yuichiro Iwamoto, Kaoru Yamashita, Yasufumi Seki, Kosaku Amano, Atsuhiro Ichihara, Hideaki Kaneto","doi":"10.1507/endocrj.EJ26-0396","DOIUrl":"https://doi.org/10.1507/endocrj.EJ26-0396","url":null,"abstract":"Pasireotide, a somatostatin analog with high affinity for somatostatin receptor 5 (SSTR5), is frequently used to treat residual or recurrent pituitary adenomas, but it often induces hyperglycemia by suppressing glucagon-like peptide-1 (GLP-1) secretion. Although GLP-1 receptor agonists (GLP-1RAs) have been reported to be effective for pasireotide-induced hyperglycemia, no established treatment strategy currently exists. The present report describes the first documented use of once-weekly subcutaneous tirzepatide in a patient with pasireotide-induced hyperglycemia that remained inadequately controlled despite oral GLP-1RA therapy. A 48-year-old woman without a history of glucose intolerance was diagnosed with a GH/TSH-producing pituitary adenoma/PitNET. Transsphenoidal surgery was performed, followed by initiation of pasireotide for the residual tumor. Subsequently, the patient developed progressive hyperglycemia, with the hemoglobin A1c (HbA1c) level increasing from 6.5% to 7.7%. Oral sitagliptin and semaglutide were sequentially introduced; however, glycemic control remained suboptimal. Upon switching to once-weekly subcutaneous tirzepatide, the HbA1c level decreased markedly from 7.7% to 6.3%, along with an improvement in random blood glucose levels. In conclusion, once-weekly subcutaneous tirzepatide may be a therapeutic option for selected patients with pasireotide-induced hyperglycemia. However, further studies are needed to determine whether its effects differ from those of intensified GLP-1RA therapy.","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148963194","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

Somatic-only SDHD variant with tumor-specific loss of heterozygosity in metastatic carotid body tumor: a case report with review of literature. 转移性颈动脉体肿瘤中伴肿瘤特异性杂合性缺失的躯体型sddd变异：1例报告并文献复习

IF 2.5 4区医学

Endocrine journal Pub Date : 2026-09-11 DOI: 10.1507/endocrj.EJ26-0224

Ken Kasahara, Keisuke Yoshihama, Katsuyoshi Idei, Yuki Matsui, Takuya Mikoshiba, Takeyuki Kono, Mariko Sekimizu, Kohei Nakamura, Ippei Fukada, Takayuki Ueno, Katsuhiro Mizutani, Takenori Akiyama, Hideaki Obara, Hiroyuki Ozawa

{"title":"Somatic-only SDHD variant with tumor-specific loss of heterozygosity in metastatic carotid body tumor: a case report with review of literature.","authors":"Ken Kasahara, Keisuke Yoshihama, Katsuyoshi Idei, Yuki Matsui, Takuya Mikoshiba, Takeyuki Kono, Mariko Sekimizu, Kohei Nakamura, Ippei Fukada, Takayuki Ueno, Katsuhiro Mizutani, Takenori Akiyama, Hideaki Obara, Hiroyuki Ozawa","doi":"10.1507/endocrj.EJ26-0224","DOIUrl":"https://doi.org/10.1507/endocrj.EJ26-0224","url":null,"abstract":"Carotid body tumors (CBTs) are rare paragangliomas in which genetic predisposition, particularly pathogenic variants in succinate dehydrogenase (SDHx) genes, plays an important role in tumorigenesis. Previous genetic studies of CBTs have primarily focused on germline SDHx variants, whereas somatic alterations remain poorly characterized. Among SDHx genes, SDHB variants are known to be associated with a higher metastatic risk, while SDHD variants are generally linked to a lower metastatic rate. We report the case of a 41-year-old man who presented with a painless right-sided neck mass. Imaging studies demonstrated a hypervascular tumor located at the carotid bifurcation with circumferential encasement of the carotid artery. During surgery, the tumor was classified as a Shamblin type III CBT, and complete surgical resection with vascular reconstruction was performed. Histopathological examination confirmed paraganglioma with metastasis to a single cervical lymph node. Germline genetic testing did not reveal any pathogenic variants. However, comprehensive tumor genomic profiling identified a somatic SDHD c.304C>G (p.His102Asp) variant accompanied by tumor-specific loss of heterozygosity (LOH) and copy-number loss at the SDHD locus, findings compatible with biallelic SDHD inactivation. The patient remained free of recurrence during follow-up. To our knowledge, this represents the first reported case of metastatic CBT harboring a somatic-only SDHD variant with tumor-specific LOH. This case suggests that reliance on germline testing alone may underestimate the molecular drivers of CBT and highlights the potential clinical value of tumor-based genomic profiling for risk stratification and prognostic assessment.","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148963102","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

Differentiating hypothalamic from pituitary adrenal insufficiency: underlying causes and diagnostic utility of the corticotropin-releasing hormone and growth hormone-releasing peptide-2 stimulation tests. 区分下丘脑与垂体肾上腺功能不全：促肾上腺皮质激素释放激素和生长激素释放肽-2刺激试验的潜在原因和诊断效用。

IF 2.5 4区医学

Endocrine journal Pub Date : 2026-09-11 DOI: 10.1507/endocrj.EJ26-0192

Nanami Okada, Tomoko Nakagawa, Noboru Murahashi, Tomohiko Kurosu, Shuhei Kusuda, Chisato Kaneko, Yoshiaki Hishida, Yuta Nakamura, Shiko Asai, Kenichi Yokota, Masakatsu Sone

{"title":"Differentiating hypothalamic from pituitary adrenal insufficiency: underlying causes and diagnostic utility of the corticotropin-releasing hormone and growth hormone-releasing peptide-2 stimulation tests.","authors":"Nanami Okada, Tomoko Nakagawa, Noboru Murahashi, Tomohiko Kurosu, Shuhei Kusuda, Chisato Kaneko, Yoshiaki Hishida, Yuta Nakamura, Shiko Asai, Kenichi Yokota, Masakatsu Sone","doi":"10.1507/endocrj.EJ26-0192","DOIUrl":"https://doi.org/10.1507/endocrj.EJ26-0192","url":null,"abstract":"In Japan, the Corticotropin-releasing hormone (CRH) stimulation test is widely used to evaluate secondary adrenal insufficiency (SAI); however, the insulin tolerance test (ITT) is sometimes required to assess hypothalamic dysfunction. This study aimed to identify the clinical conditions in which the ITT is necessary in addition to CRH testing. We retrospectively analyzed 69 patients who underwent both tests between August 2015 and December 2024. Forty-three patients with insufficient cortisol responses during the ITT were diagnosed with SAI and the others with non-SAI. Among SAI cases, cortisol level ≥18 μg/dL during CRH testing defined hypothalamic SAI and <18 μg/dL defined pituitary SAI. Clinical profiles and ACTH responses were compared. Pituitary SAI was associated with tumors, immune-related adverse events, glucocorticoids, COVID-19, hypophysitis and empty sella. Hypothalamic SAI was mainly associated with tumors, opioids, and COVID-19. During CRH testing, ACTH responses alone poorly distinguished hypothalamic SAI from non-adrenal insufficiency among patients with normal cortisol responses to CRH; however, a specific pattern of low basal level combined with a high peak of ACTH after CRH stimulation suggested hypothalamic SAI. In addition, a peak cortisol level <12 μg/dL in the growth hormone-releasing peptide-2 (GHRP-2) stimulation test was also specific to hypothalamic SAI among patients with normal cortisol responses to CRH. In conclusion, even when cortisol responses to CRH appear adequate, the ITT remains necessary for patients with clinical or etiological features suggestive of hypothalamic dysfunction. When the ITT is contraindicated, analyzing ACTH values during the CRH stimulation test and peak cortisol levels during the GHRP-2 test would effectively support hypothalamic SAI diagnosis.","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148963099","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

Human health impact of endocrine disruptors: time to regain our stolen future! 内分泌干扰物对人类健康的影响：是时候夺回我们被偷走的未来了！

IF 2.5 4区医学

Endocrine journal Pub Date : 2026-09-09 DOI: 10.1507/endocrj.EJ25-0373

Junko Kimura-Kuroda

{"title":"Human health impact of endocrine disruptors: time to regain our stolen future!","authors":"Junko Kimura-Kuroda","doi":"10.1507/endocrj.EJ25-0373","DOIUrl":"https://doi.org/10.1507/endocrj.EJ25-0373","url":null,"abstract":"In the latter half of the 20th century, humans have produced various synthetic chemicals, several of which had serious adverse effects on ecosystems and human health. Colborn et al. noticed that some chemicals disrupt the hormonal system of living organisms. They named these chemicals endocrine-disrupting chemicals (EDCs) and published the book Our Stolen Future. In classical toxicology, toxins directly act on cellular components, such as proteins, DNA, and cell membranes; cause damage and exhibit toxicity; and demonstrate a linear dose-response relationship, thus allowing safe thresholds. EDCs transmit abnormal signals through receptors, thus causing errors in the timing, type, and quantity of gene expression, which lead to adverse effects. Through the hormonal signaling system, EDCs can exhibit hormone-disrupting effects even at low doses, thus making it difficult to establish clear thresholds. EDCs have been reported to cause adverse effects by disrupting the estrogenic, androgenic, thyroid, and other signaling systems. Therefore, EDCs affect not only the endocrine system but also the reproductive, nervous, and immune systems. Owing to the wide-ranging effects of EDCs, there is no standardized definition of EDCs, and further research is needed to scientifically clarify EDCs. However, there are accumulating reports on the health hazards to humans caused by EDCs. Considering the precautionary approach, regulations regarding EDCs need to be reevaluated at both the national and international levels. This review introduces and discusses recent research and public initiatives related to EDCs. Can \"our stolen future\" be regained?","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148918853","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

What do you mean by PitNETs in WHO Classification 2022? 在世卫组织分类2022中，PitNETs是什么意思？

IF 2.5 4区医学

Endocrine journal Pub Date : 2026-09-04 DOI: 10.1507/endocrj.EJ25-0504

Robert Y Osamura, Chie Inomoto, Shigeyuki Tahara, Kenichi Oyama, Akira Matsuno, Akira Teramoto

{"title":"What do you mean by PitNETs in WHO Classification 2022?","authors":"Robert Y Osamura, Chie Inomoto, Shigeyuki Tahara, Kenichi Oyama, Akira Matsuno, Akira Teramoto","doi":"10.1507/endocrj.EJ25-0504","DOIUrl":"https://doi.org/10.1507/endocrj.EJ25-0504","url":null,"abstract":"This review is aimed at clarifying the background and the meaning of new terminology \"pituitary neuroendocrine tumours\" (PitNETs) in WHO Classification 2022. The PitNETs share the unique structures of secretory granules (SG) with other neuroendocrine tumors, the good example of which is the pancreatic NETs which are now considered to be potentially aggressive, i.e., invasive and metastatic. The PitNETs share these features of pancreatic NETs and now are considered to be potentially aggressive tumors. The PitNETs are classified according to the functions (hormones) and transcription factors, PIT1, TPIT and SF1. The PitNETs are usually slow growing tumors with generally low (<3%) Ki-67 indices. PitNETs show some morphologic features which are more closely related to aggressive growths, such as Crooke cells. The questions how those particular PitNETs are aggressive have been approached by molecular techniques such as single cell RNA seq to clarify the genomic heterogeneity and the biology of individual tumor cells. It is expected that the PitNETs will be clarified and classified with more biologically and therapeutically oriented manner.","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148900339","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

Molecular analysis of testicular germ cell tumor in a male patient with 45,X/46,XY mosaicism: case report with review of literature. 45、X/46、XY嵌合男性睾丸生殖细胞瘤的分子分析：1例报告并文献复习。

IF 2.5 4区医学

Endocrine journal Pub Date : 2026-09-04 DOI: 10.1507/endocrj.EJ26-0226

Shinichiro Sano, Kazuyuki Komatsu, Atsushi Hamano, Hideto Iwafuchi, Yasuko Fujisawa, Hirotomo Saitsu, Tsutomu Ogata

{"title":"Molecular analysis of testicular germ cell tumor in a male patient with 45,X/46,XY mosaicism: case report with review of literature.","authors":"Shinichiro Sano, Kazuyuki Komatsu, Atsushi Hamano, Hideto Iwafuchi, Yasuko Fujisawa, Hirotomo Saitsu, Tsutomu Ogata","doi":"10.1507/endocrj.EJ26-0226","DOIUrl":"https://doi.org/10.1507/endocrj.EJ26-0226","url":null,"abstract":"The 45,X/46,XY mosaicism is a rare condition with a wide range of phenotypes, including a nearly normal male or female phenotype and variable degrees of gonadal differentiation. Dysgenetic gonads containing Y chromosome material carry an increased risk of developing gonadal germ cell tumors. However, to date, molecular analyses of testicular germ cell tumors (TGCTs) in patients with 45,X/46,XY mosaicism have not been reported. We encountered a 17-year-old male patient with 45,X/46,XY mosaicism who presented with undervirilized external genitalia. Ultrasound examination revealed an abnormality in the right testis, and subsequent orchiectomy confirmed the presence of gonadoblastoma, germ cell neoplasia in situ, and seminoma. Molecular analysis of the tumor tissue revealed a heterozygous pathogenic KIT mutation (c.2446G>T, p.(Asp816Tyr)) and copy number gains across nearly all chromosomes, including 12p. This is the first report of genetic analysis of a TGCT in a patient with 45,X/46,XY mosaicism, revealing molecular abnormalities similar to those in male patients without differences of sex development. Furthermore, we reviewed five cases of seminoma in patients with 45,X/46,XY mosaicism, including the present case. These observations suggest that seminoma may develop after puberty regardless of the degree of masculinization, testicular position, or initial biopsy findings, highlighting the need for careful long-term surveillance in these patients.","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148900369","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