Thematic Issue Journals & Articles

Rare Endocrine Diseases 2024

May 30, 2024

an Endocrine Society Thematic Issue

 

Read our special collection of journal articles, published in 2023–2024, focused on rare endocrine diseases! Curation of the collection was guided by Altmetric Attention Scores, article downloads, and Featured Article designations.

In Journal of the Endocrine Society, Richter and Bechmann report that ancestral origins and biological sex are strong influences on the driver genes identified in a retrospective analysis of over 2000 Asian and European patients with pheochromocytoma and paraganglioma. Charoenngam and coauthors report favorable results from a small study testing the feasibility of using a pump to infuse recombinant parathyroid hormone moieties in adult patients with hypoparathyroidism. Else and colleagues find that a novel radiotracer is effective for staging paragangliomas using positron emission tomography.

In JCEM Case Reports, Rosenberg and coauthors describe a rare case of adrenal cortical carcinoma with hyperaldosteronism and cortisol excess. Shu et al. describe the case of a woman diagnosed with Fahr syndrome secondary to pseudohypoparathyroidism. Park and associates describe a case of pseudo-Cushing syndrome with atypically high cortisol burden.

In Endocrine Reviews, Mullen and colleagues discuss how new technologies have advanced the treatment of primary aldosteronism-induced hypertension. Mulders and associates analyze the literature on carcinoid syndrome, a debilitating complication of neuroendocrine neoplasms. Timmers and coauthors review advances in the imaging of pheochromocytomas and paragangliomas.

In Endocrinology, Birgersson et al. review the significance of estrogen receptor beta in granulosa cell tumors and evaluate its clinical potential. Yamagata and associates describe results suggesting that corticotropin releasing factor neurons in the paraventricular nucleus of the hypothalamus are responsible for the pathogenesis of impaired water excretion in secondary adrenal insufficiency. Costa-Guda and coauthors report evidence from a mouse study suggesting that suboptimal vitamin D status may not initiate parathyroid tumors but may accelerate the growth of an existing tumor.

In JCEM, Ceccato et al. provide a systematic review and meta-analysis of the effectiveness of dynamic tests in the differential diagnosis of Cushing syndrome and ectopic adrenocorticotropic hormone secretion. Magnotto and colleagues find that, in a cohort of patients with central precocious puberty, novel mutations in different domains of the gene MKRN3 give rise to proteins with different patterns of ubiquitination, suggesting distinct mechanisms by which the loss of MRKN3 results in the early onset of puberty. Zhang et al. report evidence of gut microbial dysbiosis in patients with Cushing syndrome, and identify a group of bacteria whose abundance was positively correlated with patients’ cortisol levels.

View this collection

Published: May 2024


About Endocrine Society Thematic Issues

It can be difficult to keep up to date in the rapidly evolving and expanding world of endocrine science. We curate topical collections of research from across our journals, Endocrine Reviews, Endocrinology, Journal of the Endocrine Society, The Journal of Clinical Endocrinology & Metabolism, and JCEM Case Reports so that you can easily find and read recent, influential articles on the topics that interest you.

Selection in each Thematic Issue is guided by online metrics, including Altmetric Attention Scores, Featured Article designations, and identification of leading authors and key topics. Each month, we publish a new Thematic Issue online and work to highlight and promote endocrine science in the press, through email, on social media and across other distribution channels.

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We provide our journal authors with a variety of resources for increasing the discoverability and citation of their published work. Use these tools and tips to broaden the impact of your article.

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