Diagnostics

• Clinical presentation

• Hormone levels

  • ↑ FSH and LH

  • ↓ Testosterone with ↑ aromatase and ↑ estrogen levels

• Testicular biopsy (performed after puberty)

  • Seminiferous tubules fibrosis

  • Leydig cells hyperplasia

• Karyotyping: confirmatory test

life-long testosterone substitution