RESISTANCE TO THYROID HORMONE DUE TO A NOVEL THR- MUTATION IN A PATIENT WITH THYROID AGENESIS

RESISTANCE TO THYROID HORMONE DUE TO A NOVEL THR- MUTATION IN A PATIENT WITH THYROID AGENESIS

Refetoff Syndrome is a rare disorder characterized by resistance to thyroid hormone (RTH). The coexistence of RTH and thyroid dysgenesis is a rare event. Up to now, only four cases of ectopic gland and RTH have been reported. We report the first case with both thyroid agenesis and RTH. The patient w...

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Bibliographic Details
Main Author: Maria Scavone
Format: Article
Language:English
Published: Associazione Italiana Giovani Medici 2018-12-01
Series:Euromediterranean Biomedical Journal
Subjects:
Thyroid dysgenesis
Refetoff Syndrome
congenital hypothyroidism
Online Access:http://www.embj.org/embj/resistance-to-thyroid-hormone-due-to-a-novel-thr-b-mutation-in-a-patient-with-thyroid-agenesis/

Internet

http://www.embj.org/embj/resistance-to-thyroid-hormone-due-to-a-novel-thr-b-mutation-in-a-patient-with-thyroid-agenesis/

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