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46,XY monozygotic twins with discordant sex phenotype |
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| Authors: | Somkuti S G Wachtel S S Schinfeld J S Jackson L Tharapel A T DiGeorge A M |
| Institution: | a Department of Obstetrics and Gynecology, Abington Memorial Hospital, Abington, Pennsylvania, USA b Department of Obstetrics and Gynecology, University of Tennessee, Memphis, Tennessee, USA c Department of Medicine, Thomas Jefferson Medical College, Philadelphia, Pennsylvania, USA d Department of Pediatrics, University of Tennessee, Memphis, Tennessee, USA e Department of Pediatrics, Temple University School of Medicine, Philadelphia, Pennsylvania, USA |
| Abstract: | Objective: To analyze male and female sex differentiation in monozygotic twins. Design: Retrospective study. Setting: Multiple academic centers. Patient(s): A pair of monozygotic twins. Intervention(s): Skin and blood samples were obtained for DNA analysis and karyotyping. Main Outcome Measure(s): Mutation within the SRY gene was analyzed by the polymerase chain reaction–single-stranded conformation polymorphism test. Monozygosity was ascertained by short tandem repeat analysis. Karyotypes were studied in blood and skin fibroblasts. Result(s): SRY was present in both twins, but no mutations were detected in the SRY conserved motif. Monozygosity was confirmed by the use of short tandem repeat analysis in four loci: c-fms, thyroid peroxidase, von Willebrand factor, and tyrosine hydroxylase. The karyotype was 46,XY uniformly in both twins. Conclusion(s): Monozygotic twins can develop discordant male and female phenotypes despite the presence of a common karyotype and despite the presence of intact testis-determining genes. In the present case, this could be due to mutation or to mosaicism involving occult 45,X cell lines in the dysgenetic gonads. |
| Keywords: | Monozygotic twins gonadal dysgenesis sex determination SRY |
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