An Endocrine Society Thematic Issue: Rare Endocrine Diseases 2018
August 2018
Read our special collection of journal articles, published in 2016–2018, focused on rare endocrine disorders. Curation of the collection was guided by Altmetric Attention Scores and Featured Article designations. Clinically relevant articles include the examination of cancer incidence in patients with acromegaly, a prospective investigation of cortisol levels in patients with Cushing disease, a case report of diabetes insipidus development after treatment with immune checkpoint inhibitors, an analysis of the efficacy of long-acting growth hormone (GH) for the treatment of GH deficiency, and much more. Several genetics papers are highlighted that look at the identification of a missense variant in familial chylomicronemia syndrome (FCS), and review articles examine variants in the NPC1 gene that cause a rare lipid-storage disease and mutations associated with monogenic diabetes. Basic science articles provide new insight into hyperemesis gravidarum, examine single nucleotide variations (SNPs) in the human glucocorticoid receptor gene, and use single-molecule imaging techniques to investigate the association of cytoskeletal proteins with somatostatin receptors. A special case report is also included that demonstrates the power of modern genetics. Using current technologies and methods for analyzing archived samples, a research team confirms that in 1914, Dr. Harvey Cushing had treated the first patient with Carney complex, offering a unique modern perspective on a historical diagnosis.
See more Endocrine Society special issues.
The Journal of Clinical Endocrinology & Metabolism
Cancer Incidence in Patients With Acromegaly: A Cohort Study and Meta-Analysis of the Literature
Jakob Dal, Michelle Z. Leisner, Kasper Hermansen, Dóra Körmendiné Farkas, Mads Bengtsen, Caroline Kistorp, Eigil H. Nielsen, Marianne Andersen, Ulla Feldt-Rasmussen, Olaf M. Dekkers, Henrik Toft Sørensen, and Jens Otto Lunde Jørgensen
Vol. 103, Issue 6, June 2018, DOI 10.1210/jc.2017-02457
Anti–PD-L1 Treatment Induced Central Diabetes Insipidus
Chen Zhao, Sri Harsha Tella, Jaydira Del Rivero, Anuhya Kommalapati, Ifechukwude Ebenuwa, James Gulley, Julius Strauss, and Isaac Brownell
Vol. 103, Issue 2, February 2018, DOI 10.1210/jc.2017-01905
Ana Laura Espinosa-de-los-Monteros, Ernesto Sosa-Eroza, Baldomero Gonzalez, Victoria Mendoza, and Moisés Mercado
First published online July 27, 2018, DOI 10.1210/jc.2018-01113
Diala El-Maouche, Courtney J. Hargreaves, Ninet Sinaii, Ashwini Mallappa, Padmasree Veeraraghavan, Deborah P. Merke
Vol. 103, Issue 6, June 2018, DOI 10.1210/jc.2018-00208
A Randomized Phase 2 Study of Long-Acting TransCon GH vs Daily GH in Childhood GH Deficiency
Pierre Chatelain, Oleg Malievskiy, Klaudziya Radziuk, Ganna Senatorova, Magdy O. Abdou, Elpis Vlachopapadopoulou, Yulia Skorodok, Valentina Peterkova, Jonathan A. Leff, Michael Beckert, and the TransCon GH Working Group
Vol. 102, Issue 5, May 2017, DOI 10.1210/jc.2016-3776
Congenital Hyperinsulinism and Hypopituitarism Attributable to a Mutation in FOXA2
Mary Ellen Vajravelu, Jinghua Chai, Bryan Krock, Samuel Baker, David Langdon, Craig Alter, and Diva D. De León
Vol. 103, Issue 3, March 2018, DOI 10.1210/jc.2017-02157
Masako Ueda, Richard L. Dunbar, Anna Wolska, Tracey U. Sikora, Maria del Rosario Escobar, Naomi Seliktar, Emil deGoma, Stephanie DerOhannessian, Linda Morrell, Adam D. McIntyre, Frances Burke, Denis Sviridov, Marcelo Amar, Robert D. Shamburek, Lita Freeman, Robert A. Hegele, Alan T. Remaley, and Daniel J. Rader
Vol. 102, Issue 5, May 2017, DOI 10.1210/jc.2016-3903
Kathryn M. Dahir, Daniel R. Tilden, Jeremy L. Warner, Lisa Bastarache, Derek K. Smith, Aliya Gifford, Andrea H. Ramirez, Jill S. Simmons, Margo M. Black, John H. Newman, and Josh C. Denny
Vol. 103, Issue 6, June 2018, DOI 10.1210/jc.2017-02676
Variability of Late-Night Salivary Cortisol in Cushing Disease: A Prospective Study
Zahrae Sandouk, Philip Johnston, Dustin Bunch, Sihe Wang, James Bena, Amir Hamrahian, and Laurence Kennedy
Vol. 103, Issue 3, March 2018, DOI 10.1210/jc.2017-02020
Journal of the Endocrine Society
Harvey Cushing Treated the First Known Patient With Carney Complex
Cynthia J. Tsay, Constantine A. Stratakis, Fabio Rueda Faucz, Edra London, Chaido Stathopoulou, Michael Allgauer, Martha Quezado, Terry Dagradi, Dennis D. Spencer, and Maya Lodish
Vol. 1, Issue 10, October 2017, DOI 10.1210/js.2017-00283
Evolving Mechanistic Views and Emerging Therapeutic Strategies for Cystic Fibrosis–Related Diabetes
John C. Yoon
Vol. 1, Issue 11, November 2017, DOI 10.1210/js.2017-00362
Endocrinology
New Insight Into Hyperemesis Gravidarum and a Potential Role for GDF15
Ryan G. Walker and Thomas B. Thompson
Vol. 159, Issue 7, July 2018, DOI 10.1210/en.2018-00439
Tomoshige Kino
Vol. 159, Issue 7, July 2018, DOI 10.1210/en.2017-03254
Donatella Treppiedi, Marie-Lise Jobin, Erika Peverelli, Elena Giardino, Titiwat Sungkaworn, Ulrike Zabel, Maura Arosio, Anna Spada, Giovanna Mantovani, and Davide Calebiro
Vol. 159, Issue 8, August 2018, DOI 10.1210/en.2018-00368
Endocrine Reviews
The Extending Spectrum of NPC1-Related Human Disorders: From Niemann-Pick C1 Disease to Obesity
Amel Lamri, Marie Pigeyre, William S. Garver, and David Meyre
Vol. 39, Issue 2, April 2018, DOI 10.1210/er.2017-00176
Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes
Yisheng Yang and Lawrence Chan
Vol. 37, Issue 3, June 2016, DOI 10.1210/er.2015-1116
