Introduction
- 46,XY
- XR disorder with defect in androgen receptor
- results in normal-appearing female with male genotype
- Loss of negative feedback results in ↑ testosterone and LH
- ↑ estrogen due to conversion of excess testosterone via aromatase
- Y chromosome contains the sex determining region of Y (SRY)
- encodes the gene for Müllerian Inhibitory Factor (MIF)
- produced by Sertoli cells
- results in degeneration of internal female sex organs
- promotes testosterone expression
- produced by Leydig cells
- can be converted to dihydrotestosterone (DHT) by 5-alpha reductase
- encodes the gene for Müllerian Inhibitory Factor (MIF)
- Lack of DHT effect (due to defective receptor) results in no external male sex organs
Presentation
- Physical exam
- rudimentary vagina
- presents with no sexual hair
- cryptorchid testes
- often found in labia majora or inguinal canal
- surgically removed to prevent malignancy
