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ey0019.3-2 | Thyroid hormone action | ESPEYB19

3.2. Congenital hypothyroidism and hyperthyroidism alters adrenal gene expression, development, and function

K Patyra , C Lof , H Jaeschke , H Undeutsch , HS Zheng , S Tyystjarvi , K Puławska , M Doroszko , M Chruściel , BM Loo , R Kurkijarvi , FP Zhang , CJ Huang , C Ohlsson , A Kero , M Poutanen , J Toppari , R Paschke , N Rahman , I Huhtaniemi , J Jaaskelainen , J Kero

Thyroid. 2022 Apr;32(4):459-471. doi: 10.1089/thy.2021.0535. PMID: 35044245Brief Summary: This study combines animal model and patient cohort data on the effect of hyperthyroidism and hypothyroidism at birth on adrenal gland development and function. The data revealed reciprocal effects of neonatal hyper- and hypothyroidism on adrenal development, activity of the adrenal steroidogenic pathway a...

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ey0017.3-10 | New genes | ESPEYB17

3.10. DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis

B Rivera , J Nadaf , S Fahiminiya , M Apellaniz-Ruiz , A Saskin , AS Chong , S Sharma , R Wagener , T Revil , V Condello , Z Harra , N Hamel , N Sabbaghian , K Muchantef , C Thomas , L de Kock , MN Hebert-Blouin , AV Bassenden , H Rabenstein , O Mete , R Paschke , MP Pusztaszeri , W Paulus , A Berghuis , J Ragoussis , YE Nikiforov , R Siebert , S Albrecht , R Turcotte , M Hasselblatt , MR Fabian , WD Foulkes

To read the full abstract: J Clin Invest. 2020;130:14791490.This detailed genetic and molecular analysis of a three-generation family reveals a new form of autosomal dominant tumor susceptibility syndrome entitled familial multinodular goiter (MNG) with schwannomatosis. Biallelic alterations of the DGCR8 gene were found in all affected patients: First, all patients harbored the same heterozygous germline mutation p.E518K. Secondly...

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ESPE Yearbook of Paediatric Endocrinology

3.2. Congenital hypothyroidism and hyperthyroidism alters adrenal gene expression, development, and function

3.10. DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis

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