Question 1

What is the Meaning of SRD5A2 Polymorphism?

Accepted Answer

SRD5A2 Polymorphism refers to a common genetic variation within the gene encoding the steroid 5-alpha-reductase type 2 enzyme. These DNA sequence alterations influence the enzyme's structure and its efficiency in converting testosterone into the more potent androgen, dihydrotestosterone (DHT). Such genetic differences are prevalent, impacting individual hormonal responses.

Question 2

What is the Context of SRD5A2 Polymorphism?

Accepted Answer

The SRD5A2 enzyme plays a pivotal role in androgen metabolism, primarily active in peripheral tissues like the prostate, seminal vesicles, and hair follicles. It is a critical component of the endocrine system, responsible for local conversion of circulating testosterone. This enzymatic activity is essential for male secondary sexual characteristics and androgen-dependent tissue function.

Question 3

What is the Significance of SRD5A2 Polymorphism?

Accepted Answer

Understanding SRD5A2 polymorphisms is clinically important. Variations can alter susceptibility to conditions like benign prostatic hyperplasia, androgenetic alopecia, and prostate cancer. They may also contribute to hyperandrogenic states in women, such as polycystic ovary syndrome, and influence responses to 5-alpha-reductase inhibitor medications.

Question 4

What is the Mechanism of SRD5A2 Polymorphism?

Accepted Answer

The SRD5A2 gene creates the 5-alpha-reductase type 2 enzyme. Polymorphisms, such as V89L or A49T variants, subtly change the enzyme's amino acid sequence. These modifications affect its binding affinity for testosterone or catalytic rate, altering DHT production within target cells. Modified enzymatic activity impacts androgen-dependent biological processes.

Question 5

What is the Application of SRD5A2 Polymorphism?

Accepted Answer

Clinical application of SRD5A2 polymorphism information often involves genetic testing to assess predisposition to androgen-related conditions or predict therapeutic responses. Knowing a patient's SRD5A2 genotype can guide decisions regarding 5-alpha-reductase inhibitor dosage or selection for prostate health or hair loss management. This genetic insight allows for personalized hormonal health strategies.

Question 6

What is the Metric of SRD5A2 Polymorphism?

Accepted Answer

Specific SRD5A2 polymorphisms are determined via molecular genetic testing, usually DNA sequencing or genotyping. While direct enzyme activity measurement is not routine, clinical outcomes related to DHT action, such as prostate volume, hair growth, or circulating DHT levels, can be assessed. Response to 5-alpha-reductase inhibitor therapy also provides a practical metric of functional significance.

Question 7

What is the Risk of SRD5A2 Polymorphism?

Accepted Answer

Misinterpretation of SRD5A2 polymorphism results without thorough clinical correlation presents a significant risk, potentially leading to incorrect diagnoses or inappropriate treatment. Overemphasis on a single genetic marker without considering other contributing factors can result in a fragmented understanding of a patient's health. Relying solely on genetic data without proper medical supervision could lead to unrealistic expectations regarding disease progression or treatment.

SRD5A2 Polymorphism

Meaning

Context

Significance

Mechanism

Application

Metric

Risk

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