An Endocrine Society Thematic Issue: Rare Endocrine Diseases

An Endocrine Society Thematic Issue: Rare Endocrine Diseases

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.

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