Related Experiment Videos
Male pseudohermaphroditism with partial androgen insensitivity
Pediatrics
|February 1, 1977
Summary
Two male siblings presented with partial masculinization and a novel endocrine disorder. Their condition involved high testosterone and luteinizing hormone, but low follicle-stimulating hormone, despite normal androgen receptor function.
Area of Science:
- Endocrinology
- Genetics
- Reproductive Medicine
Background:
- Androgen insensitivity syndrome (AIS) encompasses disorders of sex development.
- Genetic mutations affecting androgen receptor (AR) signaling cause AIS.
- Understanding AR pathway defects is crucial for diagnosing and managing disorders of sex development.
Observation:
- Two male siblings exhibited partial masculinization of external genitalia.
- Postpubertal presentation included elevated plasma testosterone and luteinizing hormone (LH) levels.
- Serum follicle-stimulating hormone (FSH) levels were notably low in affected individuals.
Findings:
- Skin fibroblast studies revealed normal androgen receptor affinity and 5alpha-dihydrotestosterone (DHT) binding capacity.
- Normal nuclear retention of the receptor-DHT complex was observed.
- Efficient conversion of testosterone to DHT was confirmed, ruling out metabolic issues.
Implications:
- This case suggests a previously undescribed defect in androgen action or signaling.
- The findings expand the spectrum of conditions causing partial androgen insensitivity.
- Further research is needed to elucidate the precise molecular mechanism underlying this novel endocrine disorder.