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MON-265 Congenital Hypothyroidism and Bilateral Ptosis Due to a Novel TSHR Gene Mutation

Background. Congenital hypothyroidism (CH) is most frequently caused by thyroid dysgenesis. Approximately 2% of cases with thyroid dysgenesis are familial. TSH receptor (TSHR) gene mutations have been reported in patients with thyroid gland dysgenesis; however, they are not known to be associated wi...

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Detalles Bibliográficos
Autores principales: Marinescu, Andreea, De Luca, Francesco, Suarez, Elizabeth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6551143/
http://dx.doi.org/10.1210/js.2019-MON-265