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The subcellular defects in the androgen insensitivity syndrome
Acta Endocrinologica. Supplementum
|January 1, 1986
Summary
Androgen insensitivity syndrome (AIS) involves complex intracellular mechanisms. Studies reveal abnormalities in testosterone and dihydrotestosterone receptors, impacting androgen action.
Area of Science:
- Endocrinology
- Molecular Biology
- Genetics
Background:
- Androgen insensitivity syndrome (AIS) presents with complex intracellular mechanisms.
- Key players include testosterone (T) and dihydrotestosterone (DHT) receptors, and androgen-5 alpha-reductase (A5R).
Purpose of the Study:
- To investigate the intracellular mechanisms of AIS.
- To analyze androgen receptor function and A5R activity in patients with varying degrees of AIS.
Main Methods:
- Analysis of cytosolic and nuclear T and DHT receptors (Kd, N max).
- Kinetic analysis of tissue-specific A5R (Km, Vmax).
- Study included children with normal female genitalia and those with ambiguous genitalia.
Main Results:
- Group A (normal female genitalia) showed lack of nuclear DHT receptor action and reduced cytosolic binding.
- Group B (ambiguous genitalia) exhibited heterogeneous results, including absent DHT receptors and decreased cytosolic N max values.
- Reduced androgen-5 alpha-reductase activity was observed in many patients; T binding was poor in both groups.
Conclusions:
- AIS is clinically complex, involving intricate intracellular mechanisms.
- Abnormalities in androgen receptor function are closely linked to altered A5R activity.
- Findings support current theories on intracellular androgen action.