Severe Phenotype of De Novo TSHR Activating Pathogenic Variants
The severe hyperthyroidism and complex course seen in these individuals contrast with previously reported cases. These cases highlight the wide phenotypic spectrum of TSHR activating variants and the persistent clinical sequelae of SNAH.
Authors
- Michael V. Zuccaro (ORCID: https://orcid.org/0000-0003-3950-4612)
- H.C. ELLSWORTH
- Jonathan B. Steinman (ORCID: https://orcid.org/0000-0001-9492-4746)
- Michael A. Fremed (ORCID: https://orcid.org/0000-0001-8672-6782)
- Vidhu Thaker (ORCID: https://orcid.org/0000-0002-3537-2782)
- Anna C Torrey
- Alex Guo
Institutions
- Boston Children's Hospital (US)
- Columbia University Irving Medical Center (US)
- Columbia University (US)
Publication Details
- Journal
- Case Reports in Endocrinology
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1155/crie/2254609
- Primary Topic
- Diabetes and associated disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Institutes of Health
- National Institute of Diabetes and Digestive and Kidney Diseases