Describe the diagnostic tests.
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
What is the treatment?
life-long testosterone substitution
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