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10.1. Did the COVID-19 lockdown affect the incidence of pediatric type 1 diabetes in Germany?

SR Tittel , J Rosenbauer , C Kamrath , J Ziegler , F Reschke , J Hammersen , K Monkemoller , A Pappa , T Kapellen , RW Holl , Initiative DPV

Diabetes Care. 2020;43(11):e172e173. doi: 10.2337/dc20-1633During the first phase of the COVID-19 pandemic, the DPV (the German diabetes registry database) study group asked whether or not the COVID-19 lockdown had affected the incidence of pediatric T1D in Germany (1). More than 210 German pediatric diabetes centers contributed their data on pediatric patients with T1D with an onset at ag...

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ey0021.3-9 | Congenital Hypothyroidism | ESPEYB21

3.9. STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179

Grasberger Helmut , Dumitrescu Alexandra M , Liao Xiao-Hui , Swanson Elliott G , Weiss Roy E , Srichomkwun Panudda , Pappa Theodora , Chen Junfeng , Yoshimura Takashi , Hoffmann Phillip , Franca Monica Malheiros , Tagett Rebecca , Onigata Kazumichi , Costagliola Sabine , Ranchalis Jane , Vollger Mitchell R , Stergachis Andrew B , Chong Jessica X , Bamshad Michael J , Smits Guillaume , Vassart Gilbert , Refetoff Samuel

Brief Summary: This study investigated congenital hypothyroidism (CH) due to dominantly inherited resistance to TSH (RTSH) in 12 unrelated families. It reveals that mutations in a non-coding (TTTG) short tandem repeat (STR) on chromosome 15q cause this condition by activating a thyroid-specific enhancer cluster. Functional studies showed that activation of this enhancer cluster leads to upregulation of the bicistronic MIR7-2/MIR1179 locus, resulting in overexpression of its mi...

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ESPE Yearbook of Paediatric Endocrinology

10.1. Did the COVID-19 lockdown affect the incidence of pediatric type 1 diabetes in Germany?

3.9. STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179

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