Endocrine journal最新文献_第6页

Hyponatremia due to preserved non-osmotic arginine vasopressin secretion in adipsic diabetes insipidus: a case report with review of literature. 腺性尿崩症患者非渗透性精氨酸加压素分泌保留导致的低钠血症：病例报告与文献综述。

IF 1.3 4区医学

Endocrine journal Pub Date : 2024-11-01 Epub Date: 2024-08-07 DOI: 10.1507/endocrj.EJ23-0643

Yasufumi Seki, Shun Sugawara, Saya Suzuki, Yulia Minakuchi, Kazuhisa Kusuki, Yuzo Mizuno

{"title":"Hyponatremia due to preserved non-osmotic arginine vasopressin secretion in adipsic diabetes insipidus: a case report with review of literature.","authors":"Yasufumi Seki, Shun Sugawara, Saya Suzuki, Yulia Minakuchi, Kazuhisa Kusuki, Yuzo Mizuno","doi":"10.1507/endocrj.EJ23-0643","DOIUrl":"10.1507/endocrj.EJ23-0643","url":null,"abstract":"Adipsic diabetes insipidus (ADI) is characterized by central diabetes insipidus and an impaired thirst response to hyperosmolality, leading to hypernatremia. Hyponatremia observed in patients with ADI has been considered a complication of desmopressin therapy. Herein, we present a case of impaired thirst sensation and arginine vasopressin (AVP) secretion without desmopressin therapy, in which hyponatremia developed due to preserved non-osmotic AVP secretion. A 53-year-old woman with hypopituitarism, receiving hydrocortisone and levothyroxine, experienced hyponatremia three times over 5 months without desmopressin treatment. The first hyponatremic episode (120 mEq/L) was complicated by a urinary tract infection with a plasma AVP level of 33.8 pg/mL. Subsequent hyponatremia episodes occurred after administration of antipsychotic (124 mEq/L) and spontaneously (125 mEq/L) with unsuppressed plasma AVP levels (1.3 and 1.8 pg/mL, respectively). Hypertonic saline infusion did not affect AVP or copeptin levels. Regulating water intake using a sliding scale based on body weight prevented the recurrence of hyponatremia without the use of desmopressin. Except during infection, plasma AVP levels (1.3 ± 0.4 pg/mL) were not significantly correlated with serum sodium levels (rs = -0.04, p = 0.85). In conclusion, we present a unique case of impaired thirst sensation and AVP secretion in which hyponatremia developed without desmopressin therapy. Preserved non-osmotic AVP secretion, possibly stimulated by glucocorticoid deficiency, may contribute to the development of hyponatremia in patients with ADI.","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":"1087-1092"},"PeriodicalIF":1.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11778385/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141901326","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}

引用次数: 0

Pembrolizumab with external radiation therapy effectively controlled TMB-high unresectable recurrent parathyroid cancer: a case report with review of literature. Pembrolizumab联合外放射治疗有效控制了TMB高的不可切除复发性甲状旁腺癌：病例报告与文献综述。

IF 1.3 4区医学

Endocrine journal Pub Date : 2024-11-01 Epub Date: 2024-07-10 DOI: 10.1507/endocrj.EJ24-0126

Hiroshi Katoh, Tomoya Mitsuma, Riku Okamoto, Kanako Naito, Takaaki Tokito, Mariko Kikuchi, Takafumi Sangai

{"title":"Pembrolizumab with external radiation therapy effectively controlled TMB-high unresectable recurrent parathyroid cancer: a case report with review of literature.","authors":"Hiroshi Katoh, Tomoya Mitsuma, Riku Okamoto, Kanako Naito, Takaaki Tokito, Mariko Kikuchi, Takafumi Sangai","doi":"10.1507/endocrj.EJ24-0126","DOIUrl":"10.1507/endocrj.EJ24-0126","url":null,"abstract":"Parathyroid cancer (PC) is extremely resistant to chemotherapy and radiotherapy (RT), but hormonally functional by producing excessive parathyroid hormone (PTH), causing remarkable hypercalcemia even in biochemical disease recurrence. Accordingly, management of hypercalcemia by calcimimetics and bisphosphonates has been main treatment for unresectable PC. Here, we report a case of unresectable tumor mutational burden (TMB)-high recurrent PC that has been effectively controlled by pembrolizumab (PEM) with RT. A 48-year-old male patient, with previous history of left single parathyroidectomy for primary hyperparathyroidism, underwent surgeries for recurrent hyperparathyroidism at 47 and 48 years of age, and was pathologically diagnosed with PC. He was referred to our hospital due to persistent hypercalcemia and elevated PTH. The recurrent tumors were identified in the superior mediastinum and radically resected, then the hyperparathyroidism was improved. A FoundationOne® CDx of the specimen called TMB-high. He demonstrated recurrent hyperparathyroidism at 49 years of age, and underwent a gross curative resection. However, hyperparathyroidism achieved only insufficient improvement, indicating biochemical residual cancer cells. PEM treatment was initiated in combination with RT to the left central-lateral neck and superior mediastinum. He successfully achieved evocalcet and zoledronate withdrawal, and the PTH level improvement was continuously observed for 8 months at present, with only grade 2 subclinical hypothyroidism. Interestingly, leukocyte fraction ratios were reversed corresponding to disease improvement. A combination of PEM and RT is a promising treatment of unresectable TMB-high PC. Recent evidence on the immunomodulatory effect of RT provides the rationale for the combination of RT and PEM.","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":"1069-1075"},"PeriodicalIF":1.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11778383/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141579303","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}

引用次数: 0

Paeoniflorin alleviates high glucose-induced endothelial cell apoptosis in diabetes mellitus by inhibiting HRAS-activated RAS pathway. 芍药苷通过抑制 HRAS 激活的 RAS 通路，缓解高血糖诱导的糖尿病内皮细胞凋亡。

IF 1.3 4区医学

Endocrine journal Pub Date : 2024-11-01 Epub Date: 2024-07-30 DOI: 10.1507/endocrj.EJ24-0122

Wenting Yu, Hongchun Jiang

{"title":"Paeoniflorin alleviates high glucose-induced endothelial cell apoptosis in diabetes mellitus by inhibiting HRAS-activated RAS pathway.","authors":"Wenting Yu, Hongchun Jiang","doi":"10.1507/endocrj.EJ24-0122","DOIUrl":"10.1507/endocrj.EJ24-0122","url":null,"abstract":"Paeoniflorin (Pae) can improve diabetes mellitus (DM), especially endothelial dysfunction induced by high glucose (HG). Molecularly, the mechanism pertinent to Pae and DM lacks further in-depth research. Hence, this study determined the molecular mechanism of Pae in treating DM through network pharmacology. The target of Pae was analyzed by TCMSP database, and DM-related genes were dissected by Genecards database and Omim database. PPI network was constructed for cross targets through Cytoscape 3.9.1 and STRING platform. GO and KEGG analyses were carried out on the cross targets. Protein molecular docking verification was completed by AutoDockTools and Pymol programs. Human umbilical vein endothelial cells (HUVECs) were separately treated with HG, Pae (5, 10, 20 μM) and/or HRAS overexpression plasmids (oe-HRAS). The cell viability, apoptosis and the protein expressions of HRAS and Ras-GTP were evaluated. There were 50 cross targets between Pae and DM, and VEGFA, EGFR, HRAS, SRC and HSP90AA1 were the key genes identified by PPI network analysis. GO and KEGG analyses revealed signal paths such as Rap1 and Ras. Molecular docking results confirmed that Pae had a good binding ability with key genes. In HG-treated HUVECs, Pae dose-dependently facilitated cell viability, attenuated cell apoptosis, and dwindled the expressions of HRAS and Ras-GTP, but these effects of Pae were reversed by oe-HRAS. In conclusion, Pae regulates the viability and apoptosis of HG-treated HUVECs by inhibiting the expression of HRAS.","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":"1045-1053"},"PeriodicalIF":1.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11778359/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141859385","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}

引用次数: 0

A novel frameshift variant of GATA3 (p.Ala17ProfsTer178) responsible for HDR syndrome in a Japanese family. 一个日本家庭中导致 HDR 综合征的 GATA3（p.Ala17ProfsTer178）新型框架移位变体。

IF 1.3 4区医学

Endocrine journal Pub Date : 2024-11-01 Epub Date: 2024-08-27 DOI: 10.1507/endocrj.EJ24-0147

Yutaka Hasegawa, Toshie Segawa, Ai Chida, Eriko Yoshida, Hirofumi Kinno, Hiraku Chiba, Tomoyasu Oda, Yoshihiko Takahashi, Koji Nata, Yasushi Ishigaki

{"title":"A novel frameshift variant of GATA3 (p.Ala17ProfsTer178) responsible for HDR syndrome in a Japanese family.","authors":"Yutaka Hasegawa, Toshie Segawa, Ai Chida, Eriko Yoshida, Hirofumi Kinno, Hiraku Chiba, Tomoyasu Oda, Yoshihiko Takahashi, Koji Nata, Yasushi Ishigaki","doi":"10.1507/endocrj.EJ24-0147","DOIUrl":"10.1507/endocrj.EJ24-0147","url":null,"abstract":"HDR syndrome is an autosomal dominant disorder characterized by hypoparathyroidism (H), deafness (D), and renal dysplasia (R) caused by genetic variants of the GATA3 gene. We present the case of a 38-year-old Japanese man with HDR syndrome who exhibited hypoparathyroidism, sensorineural deafness, renal dysfunction, severe symptomatic hypocalcemia with Chvostek's and Trousseau's signs, and QT prolongation on electrocardiography. He had a family history of deafness and hypocalcemia. Genetic testing revealed a novel GATA3 gene variant at exon 2 (c.48delC), which induces a frameshift resulting in termination at codon 178, causing HDR syndrome. We summarized 45 Japanese cases of HDR syndrome with regard to the mode of onset (familial or sporadic) and the age at diagnosis. In addition, we summarized all previous cases of HDR syndrome with GATA3 gene variants. Mapping of previously reported genetic variants in HDR syndrome revealed that most missense variants were observed at exons 4 and 5 regions in the GATA3 gene. These two regions contain zinc finger domains, demonstrating their functional importance in GATA3 transcription. This review of literature provides a useful reference for diagnosing HDR syndrome and predicting the related future manifestations.","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":"1077-1086"},"PeriodicalIF":1.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11778358/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142092510","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}

引用次数: 0

Evaluating the usefulness of plasma chromogranin A measurement in cyclic ACTH-dependent Cushing's syndrome. 评估血浆嗜铬粒蛋白 A 测量在周期性促肾上腺皮质激素依赖性库欣综合征中的实用性。

IF 1.3 4区医学

Endocrine journal Pub Date : 2024-10-01 Epub Date: 2024-06-25 DOI: 10.1507/endocrj.EJ24-0128

Keisuke Kakizawa, Miho Yamashita, Yuto Kawauchi, Akira Ikeya, Kenji Ohba, Akio Matsushita

{"title":"Evaluating the usefulness of plasma chromogranin A measurement in cyclic ACTH-dependent Cushing's syndrome.","authors":"Keisuke Kakizawa, Miho Yamashita, Yuto Kawauchi, Akira Ikeya, Kenji Ohba, Akio Matsushita","doi":"10.1507/endocrj.EJ24-0128","DOIUrl":"10.1507/endocrj.EJ24-0128","url":null,"abstract":"Cushing's syndrome, a clinical condition characterized by hypercortisolemia, exhibits distinct clinical signs and is associated with cyclic cortisol secretion in some patients. The clinical presentation of cyclic Cushing's syndrome can be ambiguous and its diagnosis is often challenging. We experienced a 72-year-old woman with cyclic ACTH-dependent Cushing's syndrome caused by a pulmonary carcinoid tumor. Diagnosis was challenging because of the extended trough periods, and the responsible lesion was initially unidentified. A subsequent follow-up computed tomography revealed a pulmonary lesion, and ectopic ACTH secretion from this lesion was confirmed by pulmonary artery sampling. Despite the short peak secretion period of ACTH (approximately one week), immunostaining of the surgically removed tumor confirmed ACTH positivity. Interestingly, stored plasma chromogranin A levels were elevated during both peak and trough periods. The experience in evaluating this patient prompted us to investigate the potential use of plasma chromogranin A as a diagnostic marker of ACTH-dependent Cushing's syndrome. A retrospective study was conducted to determine the efficacy of plasma chromogranin A in three patients with ectopic ACTH syndrome (EAS), including the present case, and six patients with Cushing's disease (CD) who visited our hospital between 2018 and 2021. Notably, plasma chromogranin A levels were higher in patients with EAS than in those with CD. Additionally, a chromogranin A level in the present case during the trough phase was lower than that in the peak phase, and was similar to those in CD patients. The measurement of plasma chromogranin A levels could aid in differentiating EAS from CD.","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":"995-1002"},"PeriodicalIF":1.3,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11778348/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141455980","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}

引用次数: 0

Improving glycemic control by transitioning from the MiniMed^TM 640G to 770G in Japanese adults with type 1 diabetes mellitus: a prospective, single-center, observational study. 日本 1 型糖尿病成人患者从 MiniMedTM 640G 到 770G 的过渡改善血糖控制：一项前瞻性、单中心、观察性研究。

IF 1.3 4区医学

Endocrine journal Pub Date : 2024-10-01 Epub Date: 2024-06-20 DOI: 10.1507/endocrj.EJ24-0136

Satoshi Kubota, Ai Sato, Manami Hosokawa, Yosuke Okubo, Shohei Takayama, Atsuko Kaneko, Yasuho Shimada, Yuki Asano, Yoshihiko Sato, Masanori Yamazaki, Mitsuhisa Komatsu

{"title":"Improving glycemic control by transitioning from the MiniMedTM 640G to 770G in Japanese adults with type 1 diabetes mellitus: a prospective, single-center, observational study.","authors":"Satoshi Kubota, Ai Sato, Manami Hosokawa, Yosuke Okubo, Shohei Takayama, Atsuko Kaneko, Yasuho Shimada, Yuki Asano, Yoshihiko Sato, Masanori Yamazaki, Mitsuhisa Komatsu","doi":"10.1507/endocrj.EJ24-0136","DOIUrl":"10.1507/endocrj.EJ24-0136","url":null,"abstract":"The effectiveness of a hybrid closed-loop (HCL) system in improving glycemic control is unclear in Japanese individuals. Therefore, we assessed the effect impact of the MiniMed 770G HCL system on glycemic control in this population. This prospective, single-center, 24-week observational study (registration number: UMIN000047394) enrolled 23 individuals with type 1 diabetes mellitus using the Medtronic MiniMed 640G system. The primary endpoint was the improvement in time in the range of 70-180 mg/dL after transitioning to the MiniMed 770G HCL system. We observed an increase in time in range (from 64.1 [55.8-69.5] to 70.9 [67.1-74.4] %, interquartile range 25-75%, p < 0.001) and a decrease in glycated hemoglobin level (from 7.4 [7.0-7.9] to 7.1 [6.8-7.4] %, p = 0.003). There was a significant reduction in time above the range (181-250 mg/dL: 25.8 [20.9-28.6] to 19.5 [17.1-22.1] %, p < 0.001; >251 mg/dL: 8.7 [4.0-13.0] to 4.7 [3.6-9.1] %, p < 0.001). Time below the range remained unchanged (54-69 mg/dL: 1.8 [0.4-2.4] to 2.1 [0.4-3.9] %, p = 0.24; <54 mg/dL: 0.2 [0.0-1.0] to 0.5 [0.1-1.3] %, p = 0.14). In a subgroup of 12 patients with a high HCL implementation rate, the basal insulin infusion decreased immediately after mealtime insulin administration and increased after approximately 120 minutes. The ratings from questionnaires assessing treatment burden, satisfaction, and quality of life remained unchanged. The MiniMed 770G HCL system improved glycemic control and optimized insulin delivery, particularly in patients with high implementation rates.","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":"955-963"},"PeriodicalIF":1.3,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11778365/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141426597","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}

引用次数: 0

Preoperative hemoglobin A1c is associated with postoperative bleeding after vitrectomy for vitreous hemorrhage in patients with diabetic retinopathy. 术前血红蛋白 A1c 与糖尿病视网膜病变患者玻璃体切割术后出血有关。

IF 1.3 4区医学

Endocrine journal Pub Date : 2024-10-01 Epub Date: 2024-06-26 DOI: 10.1507/endocrj.EJ23-0301

Saori Motoda, Masanori Kanai, Susumu Sakimoto, Harutoshi Ozawa, Chisaki Ishibashi, Shingo Fujita, Yoshiya Hosokawa, Megu Y Baden, Yukari Fujita, Takekazu Kimura, Ayumi Tokunaga, Takao Nammo, Kenji Fukui, Junji Kozawa, Hirokazu Sakaguchi, Kohji Nishida, Iichiro Shimomura

{"title":"Preoperative hemoglobin A1c is associated with postoperative bleeding after vitrectomy for vitreous hemorrhage in patients with diabetic retinopathy.","authors":"Saori Motoda, Masanori Kanai, Susumu Sakimoto, Harutoshi Ozawa, Chisaki Ishibashi, Shingo Fujita, Yoshiya Hosokawa, Megu Y Baden, Yukari Fujita, Takekazu Kimura, Ayumi Tokunaga, Takao Nammo, Kenji Fukui, Junji Kozawa, Hirokazu Sakaguchi, Kohji Nishida, Iichiro Shimomura","doi":"10.1507/endocrj.EJ23-0301","DOIUrl":"10.1507/endocrj.EJ23-0301","url":null,"abstract":"We previously reported that a high HbA1c level 3 months before vitrectomy for vitreous hemorrhage or a large preoperative decrease in the HbA1c level over 3 months tended to increase the risk of rebleeding in diabetic retinopathy patients evaluated between 2010 and 2014. Here, we aimed to confirm these results with an extended study period and an increased number of operated eyes. This study included 121 diabetic patients who were admitted to Osaka University Hospital between 2010 and 2019 and who underwent vitrectomy for vitreous hemorrhage. Binomial logistic regression analysis was performed with the presence of postoperative bleeding as the outcome. The present study showed that the duration of the operation was associated with rebleeding (odds ratio = 1.02, p = 0.0016). A high HbA1c level just before vitrectomy tended to be associated with the bleeding (odds ratio = 1.27, p = 0.05), while preoperative HbA1c changes were not associated with rebleeding. The results of this study suggest that a high preoperative HbA1c level just before vitrectomy, not a decrease in HbA1c levels, in addition to the duration of the operation may increase the risk of postoperative bleeding after vitrectomy in diabetic retinopathy patients.","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":"965-971"},"PeriodicalIF":1.3,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11778346/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141455981","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}

引用次数: 0

Characteristic external genitalia in male neonates with 5α-reductase deficiency. 患有 5α 还原酶缺乏症的男性新生儿的特征性外生殖器。

IF 1.3 4区医学

Endocrine journal Pub Date : 2024-10-01 Epub Date: 2024-07-25 DOI: 10.1507/endocrj.EJ23-0740

Takeshi Munenaga, Yosuke Ichihashi, Satsuki Nakano, Hironori Shibata, Takeshi Sato, Hiroshi Asanuma, Keiko Homma, Tomonobu Hasegawa, Tomohiro Ishii

{"title":"Characteristic external genitalia in male neonates with 5α-reductase deficiency.","authors":"Takeshi Munenaga, Yosuke Ichihashi, Satsuki Nakano, Hironori Shibata, Takeshi Sato, Hiroshi Asanuma, Keiko Homma, Tomonobu Hasegawa, Tomohiro Ishii","doi":"10.1507/endocrj.EJ23-0740","DOIUrl":"10.1507/endocrj.EJ23-0740","url":null,"abstract":"There have been no reports comparing neonatal external genitalia of 5α-reductase deficiency (5αRD) with those of other 46,XY differences of sex differentiation (DSD). This study enrolled 31 Japanese cases of 46,XY DSD whose external genitalia was examined during the neonatal period; four were diagnosed as 5αRD and 15 were defined as non-5αRD by genetic analysis of SRD5A2 or urinary steroid metabolites. We compared the following characteristics between 5αRD and non-5αRD groups, adjusting the severity of undermasculinization of the external genitalia: stretched penile length (SPL), glans width, location of the external urethral opening, and proportion of undescended testis. The external genitalia of all the 5αRD cases were Quigley classification grade 2 or 3. We compared the phenotypes between the four 5αRD cases and 11 non-5αRD cases with grade 2 or 3. The median (range) of SPL in the 5αRD group (14 mm [11-16]) was significantly lower than that in the non-5αRD group (22 mm [15-29]) (p = 0.003). An SPL cut-off value of <15 mm yielded a sensitivity of 50% (95% confidence interval [CI]; 7-93%) and specificity of 100% (95% CI, 72-100%) for discriminating between the groups. The median glans width, location of the external urethral opening, and proportion of undescended testis were not significantly different between the groups. The SPL of 5αRD in Quigley classification grade 2 or 3 was significantly shorter than that of other 46,XY DSDs with the equivalent grade.","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":"973-978"},"PeriodicalIF":1.3,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11778344/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141757834","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}

引用次数: 0

Cushing's disease with twin pregnancy and diabetes mellitus: a case report and literature review. 库欣病合并双胎妊娠和糖尿病：病例报告和文献综述。

IF 1.3 4区医学

Endocrine journal Pub Date : 2024-10-01 Epub Date: 2024-07-10 DOI: 10.1507/endocrj.EJ23-0725

Hideyasu Asai, Ikuo Yamamori, Shigeru Hagimoto, Kyoichi Okumura, Koki Sakakibara

{"title":"Cushing's disease with twin pregnancy and diabetes mellitus: a case report and literature review.","authors":"Hideyasu Asai, Ikuo Yamamori, Shigeru Hagimoto, Kyoichi Okumura, Koki Sakakibara","doi":"10.1507/endocrj.EJ23-0725","DOIUrl":"10.1507/endocrj.EJ23-0725","url":null,"abstract":"A 38-year-old Japanese woman with a history of abnormal thyroid function of non-autoimmune origin, pituitary endocrine tumor, and untreated diabetes mellitus was referred to our outpatient clinic when she became pregnant with twins. Physical findings consistent with Cushing's syndrome (CS) were absent at the time of presentation. Although baseline plasma adrenocorticotropic hormone, serum cortisol, and 24-hour urinary free cortisol excretion levels were above the upper limits of normal non-pregnant reference ranges, we could not exclude a physiological increase associated with pregnancy. No medical or surgical intervention for hypercortisolism was performed during pregnancy. Spontaneous vaginal delivery resulted in the normal delivery of live twins. A diagnosis of Cushing's disease (CD) was established when papery skin developed postpartum. Transsphenoidal surgery was performed and the hypercortisolism partially resolved post-operatively. The patient's abnormal thyroid function also resolved. Pregnancy in women with endogenous CS is rare, with less than 300 cases reported. Most reported cases of CS during pregnancy are of adrenal origin. Only two cases of twin pregnancies with CD have been reported. Therefore, we reported the third case of CD in a twin pregnancy and reviewed the diagnostic and therapeutic challenges associated with CD during pregnancy.","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":"1003-1011"},"PeriodicalIF":1.3,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11778364/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141579302","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}

引用次数: 0

Causal inference and machine learning in endocrine epidemiology. 内分泌流行病学中的因果推断和机器学习。

IF 1.3 4区医学

Endocrine journal Pub Date : 2024-10-01 Epub Date: 2024-07-06 DOI: 10.1507/endocrj.EJ24-0193

Kosuke Inoue

{"title":"Causal inference and machine learning in endocrine epidemiology.","authors":"Kosuke Inoue","doi":"10.1507/endocrj.EJ24-0193","DOIUrl":"10.1507/endocrj.EJ24-0193","url":null,"abstract":"With the rapid development of computer science, there is an increasing demand for the use of causal inference methods and machine learning in the research of endocrine disorders and their long-term health outcomes. However, studies on the effective and appropriate applications of these approaches in real-world data and clinical settings are still limited. This review will illustrate the use of causal inference and machine learning in epidemiological research within the field of endocrinology and metabolism. It will examine each concept of causal inference and machine learning through application examples of endocrine disorders. Subsequently, the paper will discuss the integration of machine learning within the causal inference framework, including (i) the estimation of treatment effects or the causal relationship between exposure and outcomes, and (ii) the evaluation of heterogeneity in such treatment effects (or exposure-outcome causal relationship) based on individuals' characteristics. Accurately assessing causal relationships and their heterogeneity across different individuals is crucial not only for determining effective interventions, but also for the appropriate allocation of medical resources and reducing healthcare disparities. By illustrating some application examples in endocrinology, this review aims to enhance readers' understanding and application of causal inference and machine learning in future epidemiological studies focusing on endocrine disorders.","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":"945-953"},"PeriodicalIF":1.3,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11778366/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141554421","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}

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