pure gonadal dysgenesis
Definition: bilateral streak gonads that fail to differenciate.
Etiology
mutations in the SRY gene on the distal short arm of the Y chromosome in 46XY sex-reversed females with pure gonadal dysgenesis
translocation in chromosome 9p near the SRY-related SOX9 gene induces campomelic dysplasia (46XY sex-reversal, sreak gonads, severe skeletal malformation)
See also
intersex
hermaphrodisms