Is bilateral congenital anorchia genetically determined?

Abstract excerpt

Bilateral congenital anorchia (BCA) can be defined as complete absence of testicular tissue in a patient with male normal phenotype and karyotype. On the basis of familial occurrences of BCA a possible genetic aetiology has been hypothesised, i.e. mutations of the SRY gene which initiates the genetic cascade leading to testis development in mammals. The aim of the study is to assess this hypothesis. Eight boys...

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