Identification of Eukaryotic Translation Initiation Factor 4B as a Novel Candidate Gene for Congenital Hypothyroidism
CONCLUSION: These experimental data supported a role for EIF4B function in the pathogenesis of the hypothyroid phenotype seen in CH patients. Our work indicated that EIF4B was identified as a novel candidate gene in CH. EIF4B is essential for animal survival, but further studies are needed to validate its role in the pathogenesis of CH.PMID:38654471 | DOI:10.1210/clinem/dgae270 (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - April 24, 2024 Category: Endocrinology Authors: Feng Sun Rui-Jia Zhang Ya Fang Cheng-Yan Yan Chang-Run Zhang Feng-Yao Wu Rui-Meng Yang Bing Han Huai-Dong Song Shuang-Xia Zhao Source Type: research

Inflammation-based scores in patients with pheochromocytoma
CONCLUSIONS: Inflammation-based scores in patients with pheochromocytoma showed pro-inflammatory changes that correlated with plasma metanephrine levels and are ameliorated by adrenalectomy and α-blockade.PMID:38655872 | DOI:10.1210/clinem/dgae284 (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - April 24, 2024 Category: Endocrinology Authors: Chiara Parazzoli Alessandro Prete Vittoria Favero Carmen Aresta Valentina Pucino John Ayuk Miriam Asia Yasir S Elhassan Iacopo Chiodini Cristina L Ronchi Source Type: research

Establishment of Human Pituitary Neuroendocrine Tumor Derived Organoid and Its Pilot Application for Drug Screening
CONCLUSION: The established PDOs, retaining typical features of parental tumors, indicate a translational significance in innovating personalized treatment for refractory PitNETs.PMID:38656317 | DOI:10.1210/clinem/dgae228 (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - April 24, 2024 Category: Endocrinology Authors: Run Cui Hao Duan Wanming Hu Chang Li Sheng Zhong Lun Liang Siyu Chen Hongrong Hu Zhenqiang He Zhenning Wang Xiaoyu Guo Zexin Chen Cong Xu Yu Zhu Yinsheng Chen Ke Sai Qunying Yang Chengcheng Guo Yonggao Mou Xiaobing Jiang Source Type: research

Increased prevalence of germline pathogenic CHEK2 variants in individuals with pituitary adenomas
CONCLUSIONS: This is the first study to suggest a role for the breast cancer predisposition gene, CHEK2, in pituitary tumorigenesis, with pathogenic/likely pathogenic variants found in 3% of patients with pituitary adenomas. As pituitary adenomas are relatively common and typically lack classical autosomal dominant family histories, risk alleles - such as these variants found in CHEK2 - might be a significant contributor to pituitary adenoma risk in the general population.PMID:38651569 | DOI:10.1210/clinem/dgae268 (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - April 23, 2024 Category: Endocrinology Authors: Sunita M C De Sousa Ann McCormack Andreas Orsmond Angeline Shen Christopher J Yates Roderick Clifton-Bligh Stephen Santoreneos James King Jinghua Feng John Toubia David J Torpy Hamish S Scott Source Type: research

Medullary Thyroid Cancer: Single Institute Experience over Three Decades and Risk Factors for Recurrence
CONCLUSION: One of 4 patients undergoing surgery for MTC will recur. Risk factors associated with recurrence are male gender, lateral LN metastasis and high/highest MTC risk level mutations, but not necessarily surgery type. Preoperative calcitonin>2,175 pg/mL is suggestive of advanced disease and should prompt further evaluation.PMID:38651609 | DOI:10.1210/clinem/dgae279 (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - April 23, 2024 Category: Endocrinology Authors: Sara Abou Azar Joseph Tobias Megan Applewhite Peter Angelos Xavier M Keutgen Source Type: research

Approach to the patient: Concept and application of targeted radiotherapy in the paraganglioma patient
J Clin Endocrinol Metab. 2024 Apr 23:dgae252. doi: 10.1210/clinem/dgae252. Online ahead of print.ABSTRACTParagangliomas can metastasize, posing potential challenges in both symptomatic management and disease control. Systemic targeted radiotherapies using 131I-MIBG and 177Lu-DOTATATE are a mainstay in the treatment of metastatic paragangliomas. This clinical scenario and discussion aim to enhance physicians' knowledge of the stepwise approach to treat these patients with paraganglioma targeted radiotherapies. It comprehensively discusses current approaches to selecting paraganglioma patients for targeted radiotherapies and...
Source: The Journal of Clinical Endocrinology and Metabolism - April 23, 2024 Category: Endocrinology Authors: Karel Pacak David Taieb Frank I Lin Abhishek Jha Source Type: research

SHBG gene polymorphisms and their influence on serum SHBG, total and free testosterone concentrations in men
CONCLUSION: In these men, analyzed SNPs were relatively prevalent and affected serum concentrations of total T and SHBG but not calculated or measured free T except for a higher trend in rs6259 homozygotes.PMID:38652149 | DOI:10.1210/clinem/dgae280 (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - April 23, 2024 Category: Endocrinology Authors: Joeri Walravens Bas Sleumer Michel J Vos Gido Snaterse Nick Narinx Leen Antonio Tim Reyns Tom Fiers Ido P Kema Jean-Marc Kaufman Nico C van de Merbel Bruno Lapauw Source Type: research

Dipeptidyl peptidase 4 inhibitors vs. metformin for new-onset dementia: a propensity score-matched cohort study
CONCLUSION: In this real-world study, we found that DPP4 inhibitors presented an association with a lower risk of dementia in individuals with type 2 diabetes than metformin, particularly in older people and those without diabetes-related comorbidities.PMID:38652239 | DOI:10.1210/clinem/dgae281 (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - April 23, 2024 Category: Endocrinology Authors: Siyang Liu Heng Wan Sheng Nie Huanyi Cao Lan Liu Hua Liang Hong Xu Bicheng Liu Chunbo Chen Huafeng Liu Qiongqiong Yang Hua Li Yaozhong Kong Guisen Li Qijun Wan Yan Zha Ying Hu Gang Xu Yongjun Shi Yilun Zhou Guobin Su Ying Tang Mengchun Gong Aixin Guo Jian Source Type: research

Increased prevalence of germline pathogenic CHEK2 variants in individuals with pituitary adenomas
CONCLUSIONS: This is the first study to suggest a role for the breast cancer predisposition gene, CHEK2, in pituitary tumorigenesis, with pathogenic/likely pathogenic variants found in 3% of patients with pituitary adenomas. As pituitary adenomas are relatively common and typically lack classical autosomal dominant family histories, risk alleles - such as these variants found in CHEK2 - might be a significant contributor to pituitary adenoma risk in the general population.PMID:38651569 | DOI:10.1210/clinem/dgae268 (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - April 23, 2024 Category: Endocrinology Authors: Sunita M C De Sousa Ann McCormack Andreas Orsmond Angeline Shen Christopher J Yates Roderick Clifton-Bligh Stephen Santoreneos James King Jinghua Feng John Toubia David J Torpy Hamish S Scott Source Type: research

Medullary Thyroid Cancer: Single Institute Experience over Three Decades and Risk Factors for Recurrence
CONCLUSION: One of 4 patients undergoing surgery for MTC will recur. Risk factors associated with recurrence are male gender, lateral LN metastasis and high/highest MTC risk level mutations, but not necessarily surgery type. Preoperative calcitonin>2,175 pg/mL is suggestive of advanced disease and should prompt further evaluation.PMID:38651609 | DOI:10.1210/clinem/dgae279 (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - April 23, 2024 Category: Endocrinology Authors: Sara Abou Azar Joseph Tobias Megan Applewhite Peter Angelos Xavier M Keutgen Source Type: research

Approach to the patient: Concept and application of targeted radiotherapy in the paraganglioma patient
J Clin Endocrinol Metab. 2024 Apr 23:dgae252. doi: 10.1210/clinem/dgae252. Online ahead of print.ABSTRACTParagangliomas can metastasize, posing potential challenges in both symptomatic management and disease control. Systemic targeted radiotherapies using 131I-MIBG and 177Lu-DOTATATE are a mainstay in the treatment of metastatic paragangliomas. This clinical scenario and discussion aim to enhance physicians' knowledge of the stepwise approach to treat these patients with paraganglioma targeted radiotherapies. It comprehensively discusses current approaches to selecting paraganglioma patients for targeted radiotherapies and...
Source: The Journal of Clinical Endocrinology and Metabolism - April 23, 2024 Category: Endocrinology Authors: Karel Pacak David Taieb Frank I Lin Abhishek Jha Source Type: research

SHBG gene polymorphisms and their influence on serum SHBG, total and free testosterone concentrations in men
CONCLUSION: In these men, analyzed SNPs were relatively prevalent and affected serum concentrations of total T and SHBG but not calculated or measured free T except for a higher trend in rs6259 homozygotes.PMID:38652149 | DOI:10.1210/clinem/dgae280 (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - April 23, 2024 Category: Endocrinology Authors: Joeri Walravens Bas Sleumer Michel J Vos Gido Snaterse Nick Narinx Leen Antonio Tim Reyns Tom Fiers Ido P Kema Jean-Marc Kaufman Nico C van de Merbel Bruno Lapauw Source Type: research

Dipeptidyl peptidase 4 inhibitors vs. metformin for new-onset dementia: a propensity score-matched cohort study
CONCLUSION: In this real-world study, we found that DPP4 inhibitors presented an association with a lower risk of dementia in individuals with type 2 diabetes than metformin, particularly in older people and those without diabetes-related comorbidities.PMID:38652239 | DOI:10.1210/clinem/dgae281 (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - April 23, 2024 Category: Endocrinology Authors: Siyang Liu Heng Wan Sheng Nie Huanyi Cao Lan Liu Hua Liang Hong Xu Bicheng Liu Chunbo Chen Huafeng Liu Qiongqiong Yang Hua Li Yaozhong Kong Guisen Li Qijun Wan Yan Zha Ying Hu Gang Xu Yongjun Shi Yilun Zhou Guobin Su Ying Tang Mengchun Gong Aixin Guo Jian Source Type: research

Correction to: "Increased Risk of Vertebral Fractures in Patients With Mild Autonomous Cortisol Secretion"
J Clin Endocrinol Metab. 2024 Apr 22:dgae246. doi: 10.1210/clinem/dgae246. Online ahead of print.NO ABSTRACTPMID:38648187 | DOI:10.1210/clinem/dgae246 (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - April 22, 2024 Category: Endocrinology Source Type: research

Hemostatic Effects of Exercise-Related Hypoglycemia in Male Persons With Type 1 Diabetes
CONCLUSION: Individuals with T1D exhibit a hypercoagulable hemostatic profile compared to healthy controls and exercise-related hypoglycemia may increase the susceptibility to thrombosis via both procoagulant and antifibrinolytic effects.PMID:38642404 | DOI:10.1210/clinem/dgae278 (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - April 20, 2024 Category: Endocrinology Authors: Per Gustav Hagelqvist Andreas Andersen Kaisar Maytham Christine Rode Andreasen Susanne Engberg Ulrik Pedersen-Bjergaard Julie Lyng Forman P är Johansson Jens Lykkesfeldt Filip Krag Knop Tina Vilsb øll Source Type: research