Screening for Mutations in Isolated Central Hypothyroidism Reveals a Novel Mutation in Insulin Receptor Substrate 4

Screening for Mutations in Isolated Central Hypothyroidism Reveals a Novel Mutation in Insulin Receptor Substrate 4

BackgroundCentral hypothyroidism (CeH) is a rare condition affecting approximately 1:16 000- 100 000 individuals. Congenital forms can harm normal development if not detected and treated promptly. Clinical and biochemical diagnosis, especially of isolated CeH, can be challenging. Cases are not usual...

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Bibliographic Details
Main Authors: Konrad Patyra, Kristiina Makkonen, Maria Haanpää, Sinikka Karppinen, Liisa Viikari, Jorma Toppari, Mary Pat Reeve, Jukka Kero
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-05-01
Series:Frontiers in Endocrinology
Subjects:
insulin receptor substrate 4
IRS4
central hypothyroidism
thyroid disorders
genetic screening
FinnGen
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2021.658137/full

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https://www.frontiersin.org/articles/10.3389/fendo.2021.658137/full

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