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Endocr Rev. 2021 Oct 13;bnab036. PMID: 34644386 doi: 10.1210/endrev/bnab036Brief Summary: This comprehensive review summarizes the current knowledge on the spectrum of endocrine disorders associated with mitochondrial disease. It provides essential information on the basics and genetics of mitochondrial diseases and details the clinical characteristics, focusing on endocrine and important non-...

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ey0020.12-5 | Genetics | ESPEYB20

12.5. Perspectives of rare disease experts on newborn genome sequencing

NB Gold , SM Adelson , N Shah , S Williams , SL Bick , ES Zoltick , JI Gold , A Strong , R Ganetzky , AE Roberts , M Walker , AM Holtz , VG Sankaran , O Delmonte , W Tan , IA Holm , JR Thiagarajah , J Kamihara , J Comander , E Place , J Wiggs , RC Green

Brief summary: This survey study addressed the question whether rare disease experts (n=238) would advise genetic neonatal screening for treatable genetic disorders. Most experts (87.9%) agreed that genetic analysis for a limited number of monogenic treatable conditions should be available to all newborns.Newborn screening has been introduced for diagnosing a few treatable congenital disorders at birth in apparently healthy newborns, in order to...

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ey0019.15-4 | Diabetes | ESPEYB19

15.4. Four groups of type 2 diabetes contribute to the etiological and clinical heterogeneity in newly diagnosed individuals: An IMI DIRECT study

A Wesolowska-Andersen , CA Brorsson , R Bizzotto , A Mari , A Tura , R Koivula , A Mahajan , A Vinuela , JF Tajes , S Sharma , M Haid , C Prehn , A Artati , MG Hong , PB Musholt , A Kurbasic , F De Masi , K Tsirigos , HK Pedersen , V Gudmundsdottir , CE Thomas , K Banasik , C Jennison , A Jones , G Kennedy , J Bell , L Thomas , G Frost , H Thomsen , K Allin , TH Hansen , H Vestergaard , T Hansen , F Rutters , P Elders , L t'Hart , A Bonnefond , M Canouil , S Brage , T Kokkola , A Heggie , D McEvoy , A Hattersley , T McDonald , H Teare , M Ridderstrale , M Walker , I Forgie , GN Giordano , P Froguel , I Pavo , H Ruetten , O Pedersen , E Dermitzakis , PW Franks , JM Schwenk , J Adamski , E Pearson , MI McCarthy , S Brunak , Consortium ID

Cell Rep Med. 2022;3(1):100477. doi: 10.1016/j.xcrm.2021.100477. PubMed ID: 35106505Brief summary: To explore clinical heterogeneity, this study analyzed baseline visit data on 726 adults with newly diagnosed Type 2 diabetes (T2D) adults and identified in 4 distinct profiles (clusters of phenotypes), which predicted differences in subsequent disease progression and anti-diabetic treatments...

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ESPE Yearbook of Paediatric Endocrinology

14.18. Endocrine manifestations and new developments in mitochondrial disease

12.5. Perspectives of rare disease experts on newborn genome sequencing

15.4. Four groups of type 2 diabetes contribute to the etiological and clinical heterogeneity in newly diagnosed individuals: An IMI DIRECT study

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