Harald Jüppner
doi : 10.1210/clinem/dgab060
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Pages 1541–1552
Pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP) are caused by mutations and/or epigenetic changes at the complex GNAS locus on chromosome 20q13.3 that undergoes parent-specific methylation changes at several differentially methylated regions (DMRs). GNAS encodes the alpha-subunit of the stimulatory G protein (Gs?) and several splice variants thereof. PHP type Ia (PHP1A) is caused by heterozygous inactivating mutations involving the maternal exons 1-13. Heterozygosity of these maternal GNAS mutations cause PTH-resistant hypocalcemia and hyperphosphatemia because paternal Gs? expression is suppressed in certain organs thus leading to little or no Gs? protein in the proximal renal tubules and other tissues. Besides biochemical abnormalities, PHP1A patients show developmental abnormalities, referred to as Albright’s hereditary osteodystrophy (AHO). Some, but not all of these AHO features are encountered also in patients affected by PPHP, who carry paternal Gs?-specific mutations and typically show no laboratory abnormalities. Autosomal dominant PHP type Ib (AD-PHP1B) is caused by heterozygous maternal deletions within GNAS or STX16, which are associated with loss of methylation at the A/B DMR alone or at all maternally methylated GNAS exons. Loss of methylation of exon A/B and the resulting biallelic expression of A/B transcript reduces Gs? expression thus leading to hormonal resistance. Epigenetic changes at all differentially methylated GNAS regions are also observed in sporadic PHP1B, which is the most frequent PHP1B variant. However, this disease variant remains unresolved at the molecular level, except for rare cases with paternal uniparental isodisomy or heterodisomy of chromosome 20q (patUPD20q).
Kaitlin M Love, Zhenqi Liu
doi : 10.1210/clinem/dgab078
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Pages 1553–1565
Obesity and type 2 diabetes are associated with chronic hyperinsulinemia, elevated plasma levels of dipeptidyl peptidase-4 (DPP4), and a pro-atherosclerotic milieu.
Fang Fang, Qian Luo, Ren-Bin Ge, Meng-Yu Lai, Yu-Jia Gong, Mei Kang, Ming-Ming Ma, Lei Zhang, Yao Li, Yu-Fan Wang, Yong-De Peng
doi : 10.1210/clinem/dgab158
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Pages 1566–1575
Although diabetic peripheral neuropathy (DPN) is predominantly considered a disorder of the peripheral nerves, some evidence for central nervous system involvement has recently emerged. However, whether or to what extent the microstructure of central somatosensory tracts may be injured remains unknown.
Corinna Dannecker, Robert Wagner, Andreas Peter, Julia Hummel, Andreas Vosseler, Hans-Ulrich H?ring, Andreas Fritsche, Andreas L Birkenfeld, Norbert Stefan, Martin Heni
doi : 10.1210/clinem/dgab147
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Pages 1576–1584
Pharmacological lowering of low-density lipoprotein (LDL) cholesterol potently reduces cardiovascular risk while concurrently increasing type 2 diabetes risk.
Anju E Joham, Nadira S Kakoly, Helena J Teede, Arul Earnest
doi : 10.1210/clinem/dgab134
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Pages 1585–1593
There are limited studies in large population-based settings examining the relationship between polycystic ovary syndrome (PCOS) and hypertension.
Chieh-Li Yen, Pei-Chun Fan, Ming-Shyan Lin, Cheng-Chia Lee, Kun-Hua Tu, Chao-Yu Chen, Ching-Chung Hsiao, Hsiang-Hao Hsu, Ya-Chung Tian, Chih-Hsiang Chang
doi : 10.1210/clinem/dgab137
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Pages 1594–1605
Fenofibrate provides limited cardiovascular (CV) benefits in the general population; however, little is known about its benefit among advanced chronic kidney disease (CKD) patients.
Christina Tatsi, Andrea G Maria, Cole Malloy, Lin Lin, Edra London, Nick Settas, Chelsi Flippo, Meg Keil, Fady Hannah-Shmouni, Dax A Hoffman, Constantine A Stratakis
doi : 10.1210/clinem/dgab118
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Pages 1606–1616
Pathogenic variants in KCNJ5, encoding the GIRK4 (Kir3.4) potassium channel, have been implicated in the pathogenesis of familial hyperaldosteronism type-III (FH-III) and sporadic primary aldosteronism (PA). In addition to aldosterone, glucocorticoids are often found elevated in PA in association with KCNJ5 pathogenic variants, albeit at subclinical levels. However, to date no GIRK4 defects have been linked to Cushing syndrome (CS).
Antoine Salzmann, Sarah-Naomi James, Dylan M Williams, Marcus Richards, Dorina Cadar, Jonathan M Schott, William Coath, Carole H Sudre, Nishi Chaturvedi, Victoria Garfield
doi : 10.1210/clinem/dgab121
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Pages 1617–1629
The insulin/insulin-like signaling (IIS) pathways, including insulin-like growth factors (IGFs), vary with age. However, their association with late-life cognition and neuroimaging parameters is not well characterized.
Eva Kathrin Lamadé, Ferdinand Hendlmeier, Stefan A Wudy, Stephanie H Witt, Marcella Rietschel, Michaela Coenen, Maria Gilles, Michael Deuschle
doi : 10.1210/clinem/dgab113
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Pages 1630–1636
Excess glucocorticoids impact fetal health. Maternal glucocorticoids peak in early morning. Fetoplacental 11?-hydroxysteroid dehydrogenase type 2 (11?-HSD2) inactivates cortisol to cortisone, protecting the fetus from high glucocorticoids. However, time-specific alterations of human fetoplacental 11?-HSD2 have not been studied.
Ploutarchos Tzoulis, Julian A Waung, Emmanouil Bagkeris, Ziad Hussein, Aiyappa Biddanda, John Cousins, Alice Dewsnip, Kanoyin Falayi, Will McCaughran, Chloe Mullins, Ammara Naeem, Muna Nwokolo, Helen Quah, Syed Bitat, Eithar Deyab, Swarupini Ponnampalam, Pierre-Marc Bouloux, Hugh Montgomery, Stephanie E Baldeweg
doi : 10.1210/clinem/dgab107
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Pages 1637–1648
Dysnatremia is an independent predictor of mortality in patients with bacterial pneumonia. There is paucity of data about the incidence and prognostic impact of abnormal sodium concentration in patients with coronavirus disease 2019 (COVID-19).
Federico Oldoni, Kevin Bass, Julia Kozlitina, Hannah Hudson, Lisa M Shihanian, Viktoria Gusarova, Jonathan C Cohen, Helen H Hobbs
doi : 10.1210/clinem/dgab120
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Pages 1649–1667
ANGPTL8 (A8) plays a key role in determining the tissue fate of circulating triglycerides (TGs). Plasma A8 levels are associated with several parameters of glucose and TG metabolism, but the causality of these relationships and the contribution of genetic variants to differences in A8 levels have not been explored.
Madison T Ortega, John A McGrath, Lauren Carlson, Vanessa Flores Poccia, Gary Larson, Christian Douglas, Bob Z Sun, Shanshan Zhao, Breana Beery, Hubert W Vesper, Lumi Duke, Julianne C Botelho, Armando C Filie, Natalie D Shaw
doi : 10.1210/clinem/dgab092
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Pages 1668–1683
Epidemiologic studies have demonstrated that overweight/obese girls (OW/OB) undergo thelarche and menarche earlier than normal weight girls (NW). There have been no longitudinal studies to specifically investigate how body weight/fat affects both clinical and biochemical pubertal markers in girls.
Katherine A Sauder, Wei Perng, Michaela P Palumbo, Lizan D Bloemsma, John Carey, Deborah H Glueck, Dana Dabelea
doi : 10.1210/clinem/dgab115
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Pages 1684–1691
It is unclear how fat mass accretion in early life is related to glucose–insulin homeostasis.
Roberto Cesareo, Silvia Manfrini, Valerio Pasqualini, Cesare Ambrogi, Gianfranco Sanson, Andrea Gallo, Paolo Pozzilli, Claudio Pedone, Anna Crescenzi, Andrea Palermo
doi : 10.1210/clinem/dgab102
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Pages 1692–1701
Radiofrequency ablation (RFA) seems to achieve a significantly larger nodule volume reduction rate (VRR) than laser ablation (LA) in benign nonfunctioning thyroid nodules (BNTNs)
Marcello C Laurenti, Chiara Dalla Man, Ron T Varghese, James C Andrews, John G Jones, Cristina Barosa, Robert A Rizza, Aleksey Matveyenko, Giuseppe De Nicolao, Kent R Bailey, Claudio Cobelli, Adrian Vella
doi : 10.1210/clinem/dgab100
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Pages 1702–1709
Pulsatile insulin secretion is impaired in diseases such as type 2 diabetes that are characterized by insulin resistance. This has led to the suggestion that changes in insulin pulsatility directly impair insulin signaling. We sought to examine the effects of pulse characteristics on insulin action in humans, hypothesizing that a decrease in pulse amplitude or frequency is associated with impaired hepatic insulin action.
Milou Cecilia Madsen, Dennis van Dijk, Chantal Maria Wiepjes, Elfi Barbara Conemans, Abel Thijs, Martin den Heijer
doi : 10.1210/clinem/dgab089
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Pages 1710–1717
Erythrocytosis is a known side effect of testosterone therapy that can increase the risk of thromboembolic events.
Sara E Stinson, Anna E Jonsson, Morten A V Lund, Christine Frithioff-B?js?e, Louise Aas Holm, Oluf Pedersen, Lars ?ngquist, Thorkild I A S?rensen, Jens J Holst, Michael Christiansen, Jens-Christian Holm, Bolette Hartmann, Torben Hansen
doi : 10.1210/clinem/dgab098
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Pages 1718–1727
The importance of fasting glucagon-like peptide-1 (GLP-1) in altered metabolic outcomes has been questioned.
Lars S?vendahl, Michel Polak, Philippe Backeljauw, Joanne C Blair, Bradley S Miller, Tilman R Rohrer, Anita Hokken-Koelega, Alberto Pietropoli, Nicky Kelepouris, Judith Ross
doi : 10.1210/clinem/dgab080
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Pages 1728–1741
Growth hormone (GH) treatment has a generally good safety profile; however, concerns about increased mortality risk in adulthood have been raised.
Lukas Plachy, Petra Dusatkova, Klara Maratova, Lenka Petruzelkova, Lenka Elblova, Stanislava Kolouskova, Marta Snajderova, Barbora Obermannova, Dana Zemkova, Zdenek Sumnik, Jan Lebl, Stepanka Pruhova
doi : 10.1210/clinem/dgab084
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Pages 1742–1749
Collagens are the most abundant proteins in the human body. In a growth plate, collagen types II, IX, X, and XI are present. Defects in collagen genes cause heterogeneous syndromic disorders frequently associated with short stature. Less is known about oligosymptomatic collagenopathies.
Daniel Bengtsson, Oskar Ragnarsson, Katarina Berinder, Per Dahlqvist, Britt Edén Engstr?m, Bertil Ekman, Charlotte H?ybye, Pia Burman, Jeanette Wahlberg
doi : 10.1210/clinem/dgab079
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Pages 1750–1760
Psychiatric symptoms are common in Cushing’s disease (CD) and seem only partly reversible following treatment.
Sara Sokooti, Jose L Flores-Guerrero, Lyanne M Kieneker, Hiddo J L Heerspink, Margery A Connelly, Stephan J L Bakker, Robin P F Dullaart
doi : 10.1210/clinem/dgab075
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Pages 1761–1772
High-density lipoproteins (HDL) may be protective against type 2 diabetes (T2D) development, but HDL particles vary in size and function, which could lead to differential associations with incident T2D. A newly developed nuclear magnetic resonance (NMR)-derived algorithm provides concentrations for 7 HDL subspecies.
Eileen L Yoon, Jin-Sung Yuk
doi : 10.1210/clinem/dgab081
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Pages 1773–1782
Large-scale clinical trials on the hepatotoxicity of ulipristal acetate (UPA) are lacking.
Eva C Coopmans, Mark R Postma, Thalijn L C Wolters, Sebastiaan W F van Meyel, Romana Netea-Maier, André P van Beek, Sebastian J C M M Neggers
doi : 10.1210/clinem/dgab069
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Pages 1783–1792
Transsphenoidal surgery (TSS) is the primary treatment of choice in acromegaly. It is important to identify patients in whom surgical cure is not attainable at an early stage, both to inform patients on expected treatment outcome and to select those who are more likely to need additional therapy.
Kyoung Eun Joung, Camilia R Martin, Sara Cherkerzian, Mark Kellogg, Mandy Brown Belfort
doi : 10.1210/clinem/dgab001
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Pages 1793–1803
Human milk contains hormones that regulate metabolism. Extrauterine growth restriction remains common among preterm infants, but the effect of ingesting milk hormones on preterm infant growth is poorly understood.
Luc Marchand, Meihang Li, Coralie Leblicq, Ibrar Rafique, Tugba Alarcon-Martinez, Claire Lange, Laura Rendon, Emily Tam, Ariane Courville-Le Bouyonnec, Constantin Polychronakos
doi : 10.1210/clinem/dgab056
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Pages 1804–1810
About 1% of patients clinically diagnosed as type 1 diabetes have non-autoimmune monogenic diabetes. The distinction has important therapeutic implications but, given the low prevalence and high cost of testing, selecting patients to test is important. We tested the hypothesis that low genetic risk for type 1 diabetes can substantially contribute to this selection.
Agnieszka ?ebkowska, Agnieszka Adamska, Anna Krentowska, Aleksandra Uruska, Anita Rogowicz-Frontczak, Aleksandra Araszkiewicz, Katarzyna O?egowska, Justyna Hryniewicka, Monika Le?niewska, Ewa Wender-O?egowska, Dorota Zozuli?ska-Zi??kiewicz, Irina Kowalska
doi : 10.1210/clinem/dgab062
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Pages 1811–1820
Higher prevalence of polycystic ovary syndrome (PCOS) in women with type 1 diabetes (T1DM) is linked to exogenous insulin, especially when diabetes is diagnosed before puberty.
Duke Appiah, Cora E Lewis, David R Jacobs, Jr, James M Shikany, Charles P Quesenberry, Jr, Myron Gross, Jeff Carr, Stephen Sidney, Erica P Gunderson
doi : 10.1210/clinem/dgaa980
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Pages 1821–1831
Lactation is associated with lower risks for cardiovascular disease in women. Organ-related adiposity, which plays significant roles in the development of cardiometabolic diseases, could help explain this observation. We evaluated the association of lactation duration with visceral (VAT) and pericardial (PAT) fat volumes in women.
Stella Bernardi, Fabiola Giudici, Vincenzo Barbato, Lorenzo Zanatta, Andrea Grillo, Bruno Fabris
doi : 10.1210/clinem/dgab157
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Pages 1832–1843
Current data about the cardiovascular manifestations of mild primary hyperparathyroidism (pHPT) are often conflicting. Pulse wave velocity (PWV) is the gold standard for assessing aortic stiffness, and it predicts cardiovascular morbidity and mortality.
Jill E Long, Min S Lee, Diana L Blithe
doi : 10.1210/clinem/dgab034
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Pages e2381–e2392
The advent of new methods of male contraception would increase contraceptive options for men and women and advance male contraceptive agency. Pharmaceutical R&D for male contraception has been dormant since the 1990s. The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) has supported a contraceptive development program since 1969 and supports most ongoing hormonal male contraceptive development. Nonhormonal methods are in earlier stages of development.
Lucinda M Gruber, Sina Jasim, Allison Ducharme-Smith, Toby Weingarten, William F Young, Jr, Irina Bancos
doi : 10.1210/clinem/dgab130
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Pages e2393–e2401
Treatment of pheochromocytoma and paraganglioma (PPGL) requires preintervention titration of alpha- and beta-adrenergic blockade, but patients may still be at risk for complications from catecholamine excess. Metyrosine decreases catecholamine production, making it an attractive therapeutic adjunct for select patients.
Lauren P Wallner, Mousumi Banerjee, David Reyes-Gastelum, Ann S Hamilton, Kevin C Ward, Carrie Lubitz, Sarah T Hawley, Megan R Haymart
doi : 10.1210/clinem/dgab139
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Pages e2402–e2412
The use of radioactive iodine (RAI) for low-risk thyroid cancer is common, and variation in its use exists, despite the lack of benefit for low-risk disease and potential harms and costs.
Clive J Petry, Keith A Burling, Peter Barker, Ieuan A Hughes, Ken K Ong, David B Dunger
doi : 10.1210/clinem/dgab123
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Pages e2413–e2422
Delta like noncanonical notch ligand 1 (DLK1) is a paternally expressed imprinted gene that encodes an epidermal growth factor repeat-containing transmembrane protein. A bioactive, truncated DLK1 protein is present in the circulation and has roles in development and metabolism.
Pauline Gendreitzig, Heike E Künzel, Christian Adolf, Laura Handgriff, Lisa Müller, Finn Holler, Lisa Sturm, Daniel A Heinrich, Martin Reincke, Marcus Quinkler
doi : 10.1210/clinem/dgab099
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Pages e2423–e2433
Primary aldosteronism (PA) is associated with impaired quality of life (QoL). Autonomous cortisol cosecretion (ACS) is a relevant phenotype of PA, which could contribute to depression and anxiety disorders. This has not been investigated so far.
Zihao Qu, Fangkun Yang, Yishang Yan, Jianqiao Hong, Wei Wang, Sihao Li, Guangyao Jiang, Shigui Yan
doi : 10.1210/clinem/dgab085
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Pages e2434–e2443
Multiple risk factors have been implicated in the development of osteoporosis. This study examined potential associations between serum nutritional factors and bone mineral density (BMD).
Arturo Hernandez
doi : 10.1210/clinem/dgab141
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Pages e2444–e2446
Elena V Varlamov, Jonathan Q Purnell, Maria Fleseriu
doi : 10.1210/clinem/dgab127
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Pages e2447–e2449
Alan D Rogol
doi : 10.1210/clinem/dgab116
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Pages e2450–e2451
Adrian F Daly, Albert Beckers
doi : 10.1210/clinem/dgab073
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Pages e2452–e2454
Martin Reincke, Marily Theodoropoulou
doi : 10.1210/clinem/dgaa969
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Pages e2455–e2456
Norlela Sukor, Deviga Lachumanan, Nor Azmi Kamaruddin
doi : 10.1210/clinem/dgab104
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Pages e2457–e2458
doi : 10.1210/clinem/dgab249
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Page e2459
doi : 10.1210/clinem/dgab250
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Page e2460
doi : 10.1210/clinem/dgab252
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Page e2461
doi : 10.1210/clinem/dgab248
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Page e2462
doi : 10.1210/clinem/dgab253
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Page e2463
doi : 10.1210/clinem/dgab176
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Page e2464
doi : 10.1210/clinem/dgab175
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Page e2465
doi : 10.1210/clinem/dgab143
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Page e2466
doi : 10.1210/clinem/dgab083
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Page e2467
doi : 10.1210/clinem/dgab254
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 6, June 2021, Page e2468
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