ISSN 1662-4009 (online)

ey0018.3-14 | Clinical studies | ESPEYB18

3.14. Identification of resistance to exogenous thyroxine in humans

N Lacamara , B Lecumberri , B Barquiel , A Escribano , I Gonzalez-Casado , C Alvarez-Escola , F Aleixandre-Blanquer , F Morales , R Alfayate , MC Bernal-Soriano , R Miralles , I Yildirim Simsir , AG Ozgen , J Bernal , P Berbel , JC Moreno

Thyroid. 2020;30:1732–1744. doi: 10.1089/thy.2019.0825.This study is of importance, revealing a relevant clinical problem in patients under long-term levothyroxine (LT4) substitution and challenging the concept that all hypothyroid patients can be well controlled with LT4 monotherapy.Lacámara et al. present a small but elegant clinical study describi...

ey0016.7-15 | Treatment | ESPEYB16

7.15. Letrozole versus testosterone for promotion of endogenous puberty in boys with constitutional delay of growth and puberty: a randomised controlled phase 3 trial

T Varimo , H Huopio , L Kariola , S Tenhola , R Voutilainen , J Toppari , S Toiviainen-Salo , E Hamalainen , MA Pulkkinen , M Laaperi , A Tarkkanen , K Vaaralahti , PJ Miettinen , M Hero , T Raivio

To read the full abstract: Lancet Child Adolesc Health. 2019 Feb;3(2):109–120This randomised, controlled, open-label trial at four paediatric centres in Finland evaluates aromatase inhibition with letrozole to induce puberty in boys with constitutional delay of growth and puberty.Treatment of delayed puberty aims to promote pubertal development ...

ey0016.13-16 | Micronutrients | ESPEYB16

13.16. Global prevalence and disease burden of vitamin D deficiency: a roadmap for action in low- and middle-income countries

DE Roth , SA Abrams , J Aloia , G Bergeron , MW Bourassa , KH Brown , MS Calvo , KD Cashman , G Combs , LM De-Regil , ME Jefferds , KS Jones , H Kapner , AR Martineau , LM Neufeld , RL Schleicher , TD Thacher , SJ Whiting

Ann N Y Acad Sci. 2018 Oct;1430(1):44–79. DOI: 10.1111/nyas.13968• This technical report reviews the global prevalence and public health disease burden of vitamin D deficiency.• Funded by the Bill & Melinda Gates foundation, the working group of content experts from North America and Europe provide a roadmap outlining population-based strategies to impr...

ey0015.8-6 | Important for Clinical Practice | ESPEYB15

8.6 Susceptibility to corticosteroid-induced adrenal suppression: a genome-wide association study

DB Hawcutt , B Francis , DF Carr , AL Jorgensen , P Yin , N Wallin , N O'Hara , EJ Zhang , KM Bloch , A Ganguli , B Thompson , L McEvoy , M Peak , AA Crawford , BR Walker , JC Blair , J Couriel , RL Smyth , M Pirmohamed

To read the full abstract: Lancet Respir Med. 2018 Mar 15. pii: S2213-2600(18)30058-4Inhaled corticosteroids (ICS) are recommended for adults and children with asthma, as well as for chronic obstructive pulmonary disease (COPD). Although ICS are generally well-tolerated and have fewer systemic adverse effects than oral corticosteroids, some patients still develop systemic adverse effects....

ey0015.8-9 | Important for Clinical Practice | ESPEYB15

8.9 The short cosyntropin test revisited - new normal reference range using LCMSMS

GÅ Ueland , P Methlie , M Øksnes , HB Thordarson , J Sagen , R Kellmann , G Mellgren , M Ræder , P Dahlqvist , SR Dahl , PM Thorsby , K Løvås , ES Husebye

To read the full abstract: J Clin Endocrinol Metab. 2018; 103(4):1696-1703How we measure steroids has been a constant debate in recent years because current routinely used immunoassays lack both specificity and sensitivity. Therefore, chromatographic, mass spectrometric methods have been pushed forward for their higher sensitivity and specificity, and for their advantage to provide multiple measu...

ey0019.10-15 | Pathogenesis | ESPEYB19

10.15. Single-cell multi-omics analysis of human pancreatic islets reveals novel cellular states in type 1 diabetes

M Fasolino , GW Schwartz , AR Patil , A Mongia , ML Golson , YJ Wang , A Morgan , C Liu , J Schug , J Liu , M Wu , D Traum , A Kondo , CL May , N Goldman , W Wang , M Feldman , JH Moore , AS Japp , MR Betts , Consortium HPAP , RB Faryabi , A Naji , KH Kaestner , G Vahedi

Nat Metab. 2022 Feb;4(2):284-299. https://pubmed.ncbi.nlm.nih.gov/35228745/Brief Summary: This study used three high-throughput single-cell technologies to generate a pancreatic islet cell atlas from 24 organ donors with type 1 diabetes (T1D), autoantibody positive and healthy donors. The most remarkable finding was that a subset of exocrine ductal cells appears to acquire a signature of to...

ey0016.3-11 | New Genes | ESPEYB16

3.11. Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism

H Cangul , XH Liao , E Schoenmakers , J Kero , S Barone , P Srichomkwun , H Iwayama , EG Serra , H Saglam , E Eren , O Tarim , AK Nicholas , I Zvetkova , CA Anderson , FEK Frankl , K Boelaert , M Ojaniemi , J Jaaskelainen , K Patyra , C Lof , ED Williams , Consortium UK10K , M Soleimani , T Barrett , ER Maher , VK Chatterjee , S Refetoff , N Schoenmakers

To read the full abstract: JCI Insight. 2018 Oct 18;3(20). pii: 99631.This paper describes a new form of goitrous congenital hypothyroidism associated with mutations in the solute carrier family 26 member 7 gene (SLC26A7) in 6 unrelated families. In patients, a partial iodide organification defect (PIOD) with normal iodide uptake was observed, hence these mutations cause a new f...

ey0016.8-9 | Clinical Trials - New Treatments | ESPEYB16

8.9. A Randomized Trial of Epinephrine in Out-of-Hospital Cardiac Arrest

GD Perkins , C Ji , CD Deakin , T Quinn , JP Nolan , C Scomparin , S Regan , J Long , A Slowther , H Pocock , JJM Black , F Moore , RT Fothergill , N Rees , L O'Shea , M Docherty , I Gunson , K Han , K Charlton , J Finn , S Petrou , N Stallard , S Gates , R Lall , Collaborators PARAMEDIC2

To read the full abstract: N Engl J Med. 2018; 379(8): 711–721.In attempting to reduce the rate of death and disability associated with cardiac arrest worldwide, emergency medical workers have few effective treatments other than early initiation of cardiopulmonary resuscitation (CPR) and prompt defibrillation. Epinephrine (adrenaline) has potentially beneficial effects in cardiac ar...

ey0018.5-4 | Advances in clinical practice | ESPEYB18

5.4. Children are at a high risk of hypocalcaemia and hypoparathyroidism after total thyroidectomy

de Jong Mechteld , Nounou Hassan , Garcia Virginia Rozalen , Christakis Ioannis , Brain Caroline , Abdel-Aziz Tarek E , Hewitt Richard J , Kurzawinski Tom R

J Pediatr Surg. 2020 Jul;55(7):1260–1264 Abstract: https://pubmed.ncbi.nlm.nih.gov/31383578/In brief: Hypoparathyroidism is a common complication after total thyroidectomy and has been reported to occur in 30% to 60% of adult patients. The current study of 106 pediatric patients undergoing total thyroidectomy between 1998–2018 reports that hypoparathyroidism was common, w...

ey0018.9-14 | Cardiometabolic risk in chronic disease | ESPEYB18

9.14. Incidence and risk factors of obesity in childhood solid-organ transplant recipients

BC Bondi , TM Banh , J Vasilevska-Ristovska , A Szpindel , R Chanchlani , D Hebert , M Solomon , AI Dipchand , SJ Kim , VL Ng , RS Parekh

Transplantation. 2020; 104: 1644–1653. https://pubmed.ncbi.nlm.nih.gov/32732843/This retrospective study analyzed the incidence and risk factors for obesity in a large (n=410), single center cohort of pediatric solid-organ transplant recipients, who received their first transplant between January 1, 2002 and December 31, 2011 (median transplant age 8.9 years; median follow-up ...