Characteristics of Thyroid Hormone Alpha Resistance: Clinical Investigation of Untreated Adult Patients

المفاهيم الأساسية

Untreated adult patients with Thyroid Hormone Alpha Resistance exhibit distinct clinical features and may benefit from early diagnosis and treatment.

الملخص

Abstract and Introduction

• Thyroid hormone resistance due to THRA variants is rare.
• Clinical data from 4 untreated adult patients with THRA c.788C > T variant.
• Childhood symptoms include short stature, delayed development, and hypothyroid symptoms.
• Diagnosis often delayed due to normal thyroid function tests.
• Treatment in early childhood may improve outcomes.

Results

• Childhood symptoms: short stature, delayed development, hypothyroid symptoms.
• High FT3, low FT4/FT3 ratio, low reverse T3.
• Common features: tiredness, constipation, low mood.
• Low hemoglobin, high LDL/HDL ratio.

Conclusion

• Untreated RTHα patients show more severe symptoms than treated patients.
• Delay in diagnosis due to normal thyroid function tests.
• Early THRA analysis recommended for specific clinical features.

Introduction

• Thyroid hormones regulate various bodily functions.
• THRA and THRB genes encode thyroid hormone receptors.
• Pathogenic variants in receptors cause cellular resistance to T3.
• TRα predominant in CNS, intestines, bone, muscle; TRβ in hypothalamus, thyroid, liver.
• THRA variants cause RTHα, leading to hypothyroidism.

الإحصائيات

"During childhood and adolescence, short stature, short limbs, metacarpals, and phalanges, and delayed bone age maturation were observed."
"FT4/FT3 ratio and reverse T3 were low."
"All individuals complained of tiredness, constipation, and low mood."

اقتباسات

"We suggest that THRA analysis should be performed in patients with specific clinical features, as treatment in early childhood may improve outcomes."

الرؤى الأساسية المستخلصة من

Characteristics of Thyroid Hormone Alpha Resistance

by Louise Koren... في www.medscape.com 09-15-2023

http://www.medscape.com/viewarticle/995647

استفسارات أعمق

How does the delayed diagnosis of RTHα impact patient outcomes?

The delayed diagnosis of Resistance to Thyroid Hormone Alpha (RTHα) can have significant impacts on patient outcomes. Since RTHα is a rare disorder and patients may present with normal thyroid function tests, the condition may go undetected for a long time. This delay in diagnosis can lead to prolonged suffering for patients, as they may experience symptoms such as tiredness, constipation, low mood, and other hypothyroid symptoms without receiving appropriate treatment. Additionally, the delayed diagnosis can result in missed opportunities for early intervention and management, which could potentially improve the long-term prognosis and quality of life for individuals with RTHα. Therefore, early detection and diagnosis of RTHα are crucial in preventing adverse outcomes and optimizing patient care.

What are the challenges in diagnosing RTHα based on normal thyroid function tests?

Diagnosing Resistance to Thyroid Hormone Alpha (RTHα) based on normal thyroid function tests poses several challenges. Since RTHα is a rare genetic disorder caused by pathogenic variants in the thyroid hormone receptor alpha (THRA) gene, patients may present with normal levels of thyroid-stimulating hormone (TSH) and free thyroxine (FT4), making it difficult to differentiate RTHα from other thyroid conditions. This can lead to underdiagnosis or misdiagnosis of RTHα, as clinicians may not suspect a thyroid hormone resistance disorder when thyroid function tests appear normal. Additionally, the clinical presentation of RTHα can vary widely, and patients may exhibit symptoms that overlap with other conditions, further complicating the diagnostic process. Therefore, the challenges in diagnosing RTHα based on normal thyroid function tests highlight the importance of considering genetic testing and comprehensive clinical evaluation in patients with suggestive symptoms, even in the absence of abnormal thyroid function tests.

How can the findings in untreated adult patients with RTHα inform treatment strategies for similar cases?

The findings in untreated adult patients with Resistance to Thyroid Hormone Alpha (RTHα) can provide valuable insights into treatment strategies for similar cases. In the described cases, untreated adult patients with RTHα exhibited a range of clinical symptoms and metabolic abnormalities, despite having normal thyroid function tests. These findings suggest that early diagnosis and treatment of RTHα, preferably in childhood, may lead to improved outcomes and symptom management. Therefore, the experiences of untreated adult patients with RTHα underscore the importance of considering genetic testing for RTHα in individuals with specific clinical features, even if thyroid function tests are within the reference range. Furthermore, the findings highlight the potential benefits of early initiation of thyroid hormone replacement therapy in patients with RTHα to alleviate symptoms, improve quality of life, and prevent long-term complications associated with untreated thyroid hormone resistance.