ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

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ey0021.3-6 | Thyroid Function - Genetic Determinants and Associations with Health and (Thyroid) Disease | ESPEYB21

3.6. Genetic determinants of thyroid function in children

Mulder Tessa A , Campbell Purdey J , Taylor Peter N , Peeters Robin P , Wilson Scott G , Medici Marco , Dayan Colin , Jaddoe Vincent V W , Walsh John P , Martin Nicholas G , Tiemeier Henning , Korevaar Tim I M

Brief Summary: This study investigated the genetic determinants of thyroid function in newborns and (pre)school children by analyzing the associations between single nucleotide polymorphisms (SNPs) previously identified in adults, and childhood TSH within the reference interval, and FT4 concentrations. It included three large population-based cohorts with data on genetic variants and thyroid function: Generation R (Netherlands), ALSPAC (UK), and BLTS (Australia), comprising 7,...
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ey0015.2-1 | A novel disorder of hyperinsulinaemic hypoglycaemia and polycystic kidneys | ESPEYB15

A novel disorder of hyperinsulinaemic hypoglycaemia and polycystic kidneys

OR Cabezas , SE Flanagan , H Stanescu , E García-Martínez , R Caswell , H Lango-Allen , M Antón-Gamero , J Argente , AM Bussell , A Brandli , C Cheshire , E Crowne , S Dumitriu , R Drynda , JP Hamilton-Shield , W Hayes , A Hofherr , D Iancu , N Issler , C Jefferies , P Jones , M Johnson , A Kesselheim , E Klootwijk , M Koettgen , W Lewis , JM Martos , M Mozere , J Norman , V Patel , A Parrish , C Pérez-Cerdá , J Pozo , SA Rahman , N Sebire , M Tekman , PD Turnpenny , WV Hoff , DHHM Viering , MN Weedon , P Wilson , L Guay-Woodford , R Kleta , K Hussain , S Ellard , D Bockenhauer

To read the full abstract: J Am Soc Nephrol. 2017 Aug;28(8):2529-2539The association of hyperinsulinaemic hypoglycaemia (HH) and polycystic kidneys has not been reported before. Here, the authors studied 17 patients from 11 different families and found that all patients had a combination HH and polycystic kidneys. The HH was mild and some patients required diazoxide therapy. In contrast the poly...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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