The Question is from neet-zoology chemical-coordincation-and-integration , and it was created by the author Mr. BALACHANDRA.N

Question

A mutation in the $THRB$ gene, which codes for the thyroid hormone receptor beta, can lead to which of the following conditions characterized by reduced sensitivity to thyroid hormones?

Mr. BALACHANDRA.N · Accepted Answer

## CORE INFORMATION
✓ **Answer**: C
## CONCEPT FRAMEWORK
 **Primary Concept**: Thyroid hormone action and genetic disorders
 **Related Topics**: Thyroid hormone receptors, genetic mutations, thyroid function tests, clinical manifestations of thyroid disorders
 **Prerequisites**: Basic understanding of genetics, endocrinology, and thyroid physiology.
## SOLUTION PATHWAY
**Given Information**:
  A mutation in the $THRB$ gene, which codes for the thyroid hormone receptor beta.
  The resulting condition is characterized by reduced sensitivity to thyroid hormones.
**Method & Steps**:
 1. Understand the role of $THRB$ gene and its protein product.
  Reasoning: The $THRB$ gene encodes the thyroid hormone receptor beta ($TRβ$), a nuclear receptor that binds thyroid hormones (T3 and T4) and regulates gene transcription.  Mutations in this gene can impair the receptor's ability to bind hormones or to activate transcription.
  Formula/Rule: None directly applicable, this is a conceptual understanding question.
 2. Consider the consequence of reduced sensitivity to thyroid hormones.
  Working:  Reduced sensitivity implies that even with normal or elevated levels of thyroid hormones, the body's cells don't respond effectively. This leads to a condition known as generalized resistance to thyroid hormone (GRTH).
  Key Point:  GRTH is characterized by high circulating levels of thyroid hormones but normal or subnormal levels of tissue response.
 3. Identify the condition from the given options.
  Result: Generalized resistance to thyroid hormone (option C) is the condition that matches the description.
  Verification:  The other options are not consistent with reduced sensitivity to thyroid hormones. Hashimoto's thyroiditis is an autoimmune disease causing hypothyroidism, Graves' disease causes hyperthyroidism, and cretinism is a severe form of congenital hypothyroidism.
## OPTION ANALYSIS
A :x: Hashimoto's thyroiditis is an autoimmune disease leading to hypothyroidism (low thyroid hormone levels), not reduced sensitivity to thyroid hormones.
B :x: Graves' disease is an autoimmune disease causing hyperthyroidism (high thyroid hormone levels), the opposite of reduced sensitivity.
C ✓: Generalized resistance to thyroid hormone (GRTH) is a condition where the body's cells are less sensitive to thyroid hormones, despite normal or high circulating levels.
D :x: Cretinism is due to congenital hypothyroidism, not reduced sensitivity to thyroid hormones.
## LEARNING AIDS
 **Common Mistakes**:
  1.Confusing GRTH with other thyroid disorders: Understanding the distinction between GRTH and conditions like hypothyroidism or hyperthyroidism is crucial.
  2.Failing to recognize the role of $THRB$ in thyroid hormone action:  A clear understanding of the function of the $THRB$ gene and its protein product is necessary.
 **Quick Tips**:
  1.Remember that GRTH is characterized by high circulating thyroid hormone levels but low tissue response.
  2.Associate $THRB$ mutations with impaired thyroid hormone signaling and reduced cellular responsiveness.

Mr. BALACHANDRA.N · Answer

Hashimoto's thyroiditis

Mr. BALACHANDRA.N · Answer

Graves' disease

Mr. BALACHANDRA.N · Answer

The correct Option is "Generalized resistance to thyroid hormone"

Mr. BALACHANDRA.N · Answer

Cretinism

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