46,XY monozygotic twins with discordant sex phenotype
| Autor: | Laird Jackson, Angelo M. DiGeorge, S.G. Somkuti, Avirachan T. Tharapel, Stephen S. Wachtel, Jay S. Schinfeld |
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| Rok vydání: | 2000 |
| Předmět: |
Male
medicine.medical_specialty Monozygotic twin Gonadal dysgenesis Biology Polymerase Chain Reaction medicine Diseases in Twins Humans Polymorphism Single-Stranded Conformational Genetics Gonadal Dysgenesis 46 XY Sexual differentiation Cytogenetics Infant Newborn Obstetrics and Gynecology Nuclear Proteins Karyotype Single-strand conformation polymorphism Twins Monozygotic medicine.disease Sex-Determining Region Y Protein DNA-Binding Proteins Testis determining factor Phenotype Reproductive Medicine Tandem Repeat Sequences Female sex differentiation Karyotyping Female Transcription Factors |
| Zdroj: | Fertility and sterility. 74(6) |
| ISSN: | 0015-0282 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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