Familial Hyperthyroidism due to Mutations in TSH Receptor Overview
Learn About Familial Hyperthyroidism due to Mutations in TSH Receptor
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St. Vincent's University Hospital, Elm Park
Carla Moran practices in Park, Ireland. Ms. Moran is rated as an Elite expert by MediFind in the treatment of Familial Hyperthyroidism due to Mutations in TSH Receptor. Her top areas of expertise are Hyperthyroidism, Generalized Resistance to Thyroid Hormone, Familial Hyperthyroidism due to Mutations in TSH Receptor, Thyroidectomy, and Parathyroidectomy.
Luca Persani practices in Milan, Italy. Mr. Persani is rated as an Elite expert by MediFind in the treatment of Familial Hyperthyroidism due to Mutations in TSH Receptor. His top areas of expertise are Hypothyroidism, Congenital Hypothyroidism, Premature Ovarian Failure, Hormone Replacement Therapy (HRT), and Thyroidectomy.
Wagdy F Girgis MD PC
Wagdy Girgis is a primary care provider, practicing in Family Medicine in Brooklyn, New York. Dr. Girgis is rated as an Advanced provider by MediFind in the treatment of Familial Hyperthyroidism due to Mutations in TSH Receptor. His top areas of expertise are Peptic Ulcer, Cellulitis, Necrosis, and Varicose Veins.
Summary: The goal of this observational study is to learn about the neurological and cardiological phenotype of patients with resistance to thyroid hormone (RTH) syndromes beta and alpha (RTHß and RTHa) due to dominant negative variants in the genes encoding the thyroid hormone receptors alpha (THRA) and beta (THRB). The main question\[s\] it aims to answer are: * Define frequency and improve early diagnos...
Summary: Thyroid hormones (TH) play a pivotal role in the development and function of the mammalian brain. Patients with impaired thyroid hormone transport into the brain tissue or in the case of defective local thyroid hormone receptor (collectively referred to as thyroid hormone resistance) subsequently experience psychomotor disabilities. The DEEPTYPE registry has been established with the objective of ...