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ea0039oc5.5 | Oral Communications 5 | BSPED2015

A novel, missense, mutation (P81R) in the TRH receptor gene in congenital central hypothyroidism

Koulouri Olympia , Nicholas Adeline , Schoenmakers Erik , Mokrosinski Jacek , Lane Frances , Cole Trevor , Kirk Jeremy , Farooqi Sadaf , Chatterjee Krishna , Gurnell Mark , Schoenmakers Nadia

Background: Congenital, isolated, central, hypothyroidism (CCH), is rare and evades diagnosis on TSH-based congenital hypothyroidism screening programmes in the UK. Genetic ascertainment is therefore paramount in enabling prompt diagnosis and treatment of familial cases. Recognised causes include TSHB and IGSF1 gene defects, with only two previous reports of biallelic, highly disruptive (nonsense; R17X, in-frame deletion and missense; p.S115-T117del+T118), mu...

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ea0038oc5.2 | Thyroid and parathyroid | SFEBES2015

A novel, missense, mutation (P81R) in the TRH receptor gene in congenital central hypothyroidism

Koulouri Olympia , Nicholas Adeline , Schoenmakers Erik , Mokrosinski Jacek , Lane Frances , Cole Trevor , Kirk Jeremy , Farooqi Sadaf , Chatterjee Krishna , Gurnell Mark , Schoenmakers Nadia

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Endocrine Abstracts

A novel, missense, mutation (P81R) in the TRH receptor gene in congenital central hypothyroidism

A novel, missense, mutation (P81R) in the TRH receptor gene in congenital central hypothyroidism

BiosciAbstracts