A sex reversal infant with XX karyotype and complete male external genitalia
| Autor: | Yoko Nomura, Kanji Nagashima, Shigenori Yutani, Akihiro Morikawa, Kazumichi Onigata, Ryo Ogawa, Hideki Yagi, Tomohisa Nagashima |
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| Rok vydání: | 1995 |
| Předmět: |
Base Sequence
Male Phenotype Molecular Sequence Data Pseudoautosomal region Disorders of Sex Development Infant Newborn Karyotype Chromosomal translocation Sex reversal Biology Polymerase Chain Reaction Molecular biology Testis determining factor Y Chromosome Pediatrics Perinatology and Child Health Humans Female Luteinizing hormone Sex Chromosome Aberrations X chromosome |
| Zdroj: | Pediatrics International. 37:706-709 |
| ISSN: | 1328-8067 |
| DOI: | 10.1111/j.1442-200x.1995.tb03410.x |
| Popis: | The unusual case of a Japanese newborn XX male is presented. Examination of chromosomes in amniotic fluid cells had shown a normal female karyotype (46,XX), but ultrasonography revealed a penis and a scrotum. The neonate had normal male external genitalia, and serum levels of luteinizing hormone follicle stimulating hormone, and testosterone were all within the normal range. High resonance chromosome analysis revealed an excess portion on the short arm of one of the X chromosoms. We examined his genomic DNA by polymerase chain reaction (PCR) and detected two Y specific regions in his genomic DNA, the sex-determining region Y (SRY) and pseudoautosomal boundary Y. Nucleotide sequencing of the PCR products of SRY indicated no mutation. These findings suggested that the translocation or insertion of an SRY region on the X chromosome led to the development of testicles and a male phenotype. |
| Databáze: | OpenAIRE |
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