Partially deleted SRY gene confined to testicular tissue in a 46,XX true hermaphrodite without SRY in leukocytic DNA

True hermaphroditism is an uncommon form of intersexuality in which testicu lar and ovarian tissue develop in the same individual. Most true hermaphrod ites are 46,XX and lack SRY, the testis-determining gene. We describe resul ts of molecular studies performed in a 46,XX true hermaphrodite SRY-negativ e in DNA from blood leukocytes but SRY-positive in DNA obtained from the te sticular portion of the ovotestis, Surprisingly, the SRY identified in gona dal DNA carries a partial deletion at the 5' end of the gene. Our patient i s the first case of a naturally occurring deletion within the SRY ORF (with a normal HMG box) and provides a new explanation for the abnormal gonadal development observed in 46,XX true hermaphrodites, (C) 2000 Wiley-Liss, Inc .