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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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ey0016.3-11 | New Genes | ESPEYB16

3.11. Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism

H Cangul , XH Liao , E Schoenmakers , J Kero , S Barone , P Srichomkwun , H Iwayama , EG Serra , H Saglam , E Eren , O Tarim , AK Nicholas , I Zvetkova , CA Anderson , FEK Frankl , K Boelaert , M Ojaniemi , J Jaaskelainen , K Patyra , C Lof , ED Williams , Consortium UK10K , M Soleimani , T Barrett , ER Maher , VK Chatterjee , S Refetoff , N Schoenmakers

To read the full abstract: JCI Insight. 2018 Oct 18;3(20). pii: 99631.This paper describes a new form of goitrous congenital hypothyroidism associated with mutations in the solute carrier family 26 member 7 gene (SLC26A7) in 6 unrelated families. In patients, a partial iodide organification defect (PIOD) with normal iodide uptake was observed, hence these mutations cause a new f...

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ESPE Yearbook of Paediatric Endocrinology

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

3.11. Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism

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