ISSN 1662-4009 (online)

ey0019.8-4 | Important for Clinical Practice | ESPEYB19

8.4. A multi-classifier system to identify and subtype congenital adrenal hyperplasia based on circulating steroid hormones

L Ye , Z Zhao , H Ren , W Wang , W Zhou , S Zheng , R Han , J Zhang , H Li , Z Wan , C Tang , S Sun , W Wang , G Ning

J Clin Endocrinol Metab. 2022; dgac271. PMID: 35512387 https://pubmed.ncbi.nlm.nih.gov/35512387/Brief Summary: This study, in a series of independent patient cohorts, developed and validated a clinical score, based on the circulating concentrations of 13 major steroid hormones, to detect and subtype Congenital Adrenal Hyperplasia (CAH).Steroidogenesis is a complex proc...

ey0018.4-11 | New Perspectives | ESPEYB18

4.11. Genetic architecture associated with familial short stature

Lin Y , Cheng C , Wang C , Liang W , Tang C , Tsai L , Chen C , Wu J , Hsieh A , Lee M , Lin T , Liao C , Huang S , Zhang Y , Tsai C , Tsai F

J Clin Endocrinol Metab. 2020 Jun 1;105(6):dgaa131. doi: 10.1210/clinem/dgaa131. PMID: 32170311Genetic control of height has been widely explored using genome-wide association studies (GWAS) in multi-ethnic populations (1-4). Although familial short stature (FSS) is the most common type of short stature, its genetic profile and impact on bone metabolism remains to be investigated. This GWAS...

ey0017.3-5 | Follow-up paper - Graves disease | ESPEYB17

3.5. Teprotumumab for the treatment of active thyroid eye disease

RS Douglas , GJ Kahaly , A Patel , S Sile , EHZ Thompson , R Perdok , JC Fleming , BT Fowler , C Marcocci , M Marino , A Antonelli , R Dailey , GJ Harris , A Eckstein , J Schiffman , R Tang , C Nelson , M Salvi , S Wester , JW Sherman , T Vescio , RJ Holt , TJ Smith

To read the full abstract: N Engl J Med. 2020;382:341–352.Teprotumumab, an IGF-1R monoclonal antibody, showed promising results for the treatment of Graves’ orbitopathy in a first phase 2 study reported in 2017 [1]. Here, this randomized double-masked, placebo controlled phase 3 multicenter study confirms those initial promising results in patients with moderate-to severe Graves’ eye disease: The primary outcome of proptosis reduc...