Research

THRS encompasses a spectrum of rare genetic disorders characterized by reduced tissue responsiveness to thyroid hormones. This can lead to a range of clinical manifestations, including elevated thyroid hormone levels, normal or elevated thyroid-stimulating hormone (TSH) levels, and a spectrum of clinical symptoms.

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RTH Beta

RTH beta is the most prevalent form of THRS, stemming from mutations in the thyroid hormone receptor beta (THRB) gene

• Clinical Studies: We are actively conducting clinical studies to gain a deeper understanding of the natural course of RTH beta and to develop novel therapeutic approaches for this condition.
  • Where to send medical records – Please contact our research office at 305-243-3963 for more information. 
  • Treatments offered - We provide a comprehensive range of treatments for RTH beta, including thyroid hormone replacement therapy and symptom management strategies.
• Basic Science/Translational Studies: We are dedicated to elucidating the molecular basis of RTH beta and translating these findings into new therapeutic strategies.

RTH Alpha

RTH alpha is a less common form of THRS, arising from mutations in the thyroid hormone receptor alpha (THRA) gene.

• Clinical Studies: We are currently conducting clinical studies to better understand the natural history of RTH alpha and to develop new treatments for this condition.
  • Where to send medical records - Please contact our research office at 305-243-3963 for more information 
  • Treatments offered: We provide a comprehensive range of treatments for RTH alpha, including thyroid hormone replacement therapy and symptom management strategies.
• Basic Science/Translational Studies: We are actively investigating the molecular basis of RTH alpha and are developing new therapeutic approaches.

Efficient TH transport is crucial for delivering thyroid hormones to target tissues. Defects in TH transport can lead to a spectrum of clinical manifestations, including hypothyroidism.

MCT8 Deficiency

Efficient TH transport is crucial for delivering thyroid hormones to target tissues. Defects in TH transport can lead to a spectrum of clinical manifestations, including hypothyroidism.

• Clinical Studies:  We are currently conducting clinical studies to better understand the natural history of MCT8 deficiency and to develop new treatment methods for this condition.
  • Where to send medical records - Please contact our research office at 305-243-3963 for more information 
  • Treatments offered: We provide a comprehensive range of treatments for MCT8 deficiency, including thyroid hormone replacement therapy and symptom management strategies.
  • Click here to view our current clinical trial - Rescue of Infants With MCT8 Deficiency (DITPA)
• Basic Science/Translational Studies: We are actively investigating the molecular basis of MCT8 deficiency and are developing new therapeutic approaches.

TH synthesis and metabolism are essential processes for the production and breakdown of thyroid hormones. Defects in these processes can lead to a range of clinical manifestations, including hypothyroidism and hyperthyroidism.

• Essential processes – What does my thyroid do?
  • Thyroglobulin
  • Peroxidase
  • Pendrin
  • Dehalogenase
  • Deiodinase 
• Clinical Studies: Our research lab is actively conducting clinical studies to gain a deeper understanding of the molecular basis of defects in TH synthesis and metabolism, with the aim of developing novel diagnostic and therapeutic approaches for these disorders.
  • Where to send medical records: Please contact our research office at 305-243-3963 for more information 
  • Treatments offered: We provide a comprehensive range of treatments for TH synthesis and metabolism disorders, tailored to the specific underlying defect. Our treatment options include thyroid hormone replacement therapy, medication to regulate thyroid hormone levels, and dietary counseling.
• Basic Science/Translational Studies: Our research team is dedicated to elucidating the molecular mechanisms underlying defects in TH synthesis and metabolism. We utilize cutting-edge technologies to identify novel genetic variants, study gene function, and develop animal models of these disorders. Our translational research aims to bridge the gap between basic science and clinical applications, leading to improved diagnostic tools and personalized treatment strategies.

Thyroid function tests are commonly performed to assess the health of the thyroid gland and diagnose thyroid disorders. Abnormal thyroid test results can indicate a range of underlying conditions, including thyroid hormone resistance syndromes, macro TSH, and chromosome 15 abnormalities.

• TSH Resistant Syndromes: TSH-resistant syndromes (THRS) are a group of rare genetic disorders characterized by reduced tissue responsiveness to thyroid hormones. This impaired responsiveness leads to elevated thyroid hormone levels, despite normal or elevated thyroid-stimulating hormone (TSH) levels. THRS can manifest with a range of clinical symptoms, including hypothyroidism, hyperthyroidism, or a combination of both.
  • Macro TSH: Macro TSH refers to an abnormally large TSH molecule, caused by mutations in the TSH gene (TSHB). This abnormal TSH structure can interfere with accurate TSH measurement, leading to misdiagnosis or mistreatment of thyroid disorders.
  • Chromosome 15 abnormalities: Abnormalities in chromosome 15 can be associated with a range of thyroid disorders, including hypothyroidism, hyperthyroidism, and thyroid dyshormonogenesis. These abnormalities can affect genes involved in thyroid hormone synthesis, transport, and metabolism, leading to disruptions in thyroid function.