Reifenstein Syndrome
Alternate Names : Incomplete Male Pseudohermaphroditism, Partial Androgen Insensitivity Syndrome
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Reifenstein Syndrome Diagnosis & Tests
- Male chromosomes -- X,Y
- High testosterone and luteinizing hormone level in blood
- Low or absent sperm count
- Testicular biopsy shows no mature sperm despite normal precursors
- Decreased or absent vas deferens (the tubes through which sperm exit the testes)
- Partial development of female gonads/sex organs
- Decreased ability to bind androgen in cell culture tests
- Mutations in the androgen receptor gene
- Family history of affected males who share a common, unaffected female relative consistent with X-linked recessive inheritance
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