title: Combined Leydig cell and Sertoli cell dysfunction in 46,XX males lacking the sex determining region Y gene.
abstract: We have evaluated 3 individuals with a rare form of 46,XX sex reversal. All of them had ambiguous external genitalia and mixed wolffian and müllerian structures, indicating both Leydig cell and Sertoli cell dysfunction, similar to that of patients with true hermaphroditism. However, gonadal tissue was not ovotesticular but testicular with varying degrees of dysgenesis. SRY sequences were absent in genomic DNA from peripheral leukocytes in all 3 subjects. Y centromere sequences were also absent, indicating that testis development did not occur because of a low level mosaicism of Y bearing cells. The subjects in this report demonstrate that there is a continuum in the extent of testis determination in SRY-negative 46,XX sex reversal, ranging from nearly normal to minimal testicular development.
authors.affiliation: Department of Urology, Texas Tech University Health Sciences Center, Lubbock, USA.
authors.forename: B
authors.initials: B
authors.lastname: Turner
authors.forename: P Y
authors.initials: PY
authors.lastname: Fechner
authors.forename: J S
authors.initials: JS
authors.lastname: Fuqua
authors.forename: S M
authors.initials: SM
authors.lastname: Marcantonio
authors.forename: E J
authors.initials: EJ
authors.lastname: Perlman
authors.forename: J S
authors.initials: JS
authors.lastname: Vordermark
authors.forename: G D
authors.initials: GD
authors.lastname: Berkovitz
mesh_terms: D002648:Child; D004268:DNA-Binding Proteins / Q000235:genetics*; D012734:Disorders of Sex Development; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007985:Leydig Cells / Q000473:pathology*; D008297:Male; D009687:Nuclear Proteins; D010641:Phenotype; D016133:Polymerase Chain Reaction; D015183:Restriction Mapping; D012708:Sertoli Cells / Q000473:pathology*; D012733:Sex Differentiation; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors; D014998:Y Chromosome
chemical_list: D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors