Female pseudohermaphroditism with multiple caudal anomalies: Absence of Y-specific DNA sequences as pathogenetic factors
| Autor: | Judy Grimes, Laurie H. Seaver, Robert P. Erickson |
|---|---|
| Rok vydání: | 1994 |
| Předmět: |
medicine.medical_specialty
Molecular Sequence Data PAX2 Disorders of Sex Development Chromosome Breakpoints Gene mutation Biology Y chromosome Polymerase Chain Reaction Anus Imperforate Y Chromosome Internal medicine Adrenal Glands medicine Humans Abnormalities Multiple Sex organ Genitalia Urinary Tract Genetics (clinical) Testosterone DNA Primers Genetics Base Sequence Chromosomes Human Pair 10 Genes Homeobox Infant Newborn Chromosome Sequence Analysis DNA Endocrinology Testis determining factor Female Chromosome Deletion |
| Zdroj: | American Journal of Medical Genetics. 51:16-21 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/ajmg.1320510105 |
| Popis: | 46,XX female pseudohermaphrodites have been previously described with nearly complete masculinization of the external genitalia and no apparent source of testosterone. Multiple malformations of internal genital, urinary, and gastrointestinal tracts are associated. We have evaluated four such infants with female pseudohermaphroditism and multiple caudal anomalies. Three cases had apparently normal chromosome (46,XX); one had a 46,XX,del(10)(q25.3{yields}qter) chromosome constitution. The chromosome breakpoint is in the region of PAX2, a developmentally important paired box gene which is expressed in urogenital tissue. Using the polymerase chain reaction, we screened for the presence of multiple Y specific sequences, including SRY (sex determining region, Y chromosome), that could explain masculinization of the external genitalia. All were negative for Y centromeric sequences, ZFY (Zinc finger Y), and SRY. Furthermore, there was no evidence for adrenal or other sources of testosterone. We suggest that the masculinization in these cases is the result of abnormal expression of genes which would normally be regulated by testosterone. 32 refs., 1 fig., 2 tabs. |
| Databáze: | OpenAIRE |
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