Screening for mutations in the WNT-4 gene in patients with 46,XX true hermaphroditism.

Abstract We investigated if eight SRY -negative 46,XX true hermaphrodites presented mutations in WNT-4 , in blood leukocytes and/or gonadal tissue, as the cause of their disorder. We designed the sequences of the reverse primer of exon 1 and the primers of exons 2–5. Direct sequencing of all five exons demonstrated no mutant alleles in any of the patients. The possibility of the existence of causative mutations in the untranslated regions of WNT-4 , or within introns cannot be ruled out.