Taipei Medical University

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Wu YN
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------>paper_name=???????????46,XX,SRY-Negative Man???????????????
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------>fullAbstract=OBJECTIVE: To report a case of a 46,XX SRY-negative man with a male phenotype and azoospermia. DESIGN: Case report. SETTING: Molecular and Cytogenetic Unit in a University Hospital. PATIENT(S): A 35-year-old man with complete masculinization who referred to our institution because of a history of several years of infertility. INTERVENTION(S): Lymphocytic karyotype and genetic counseling. MAIN OUTCOME MEASURE(S): Peripheral blood metaphases were analyzed by standard G-banding and Q-banding. Fluorescent in situ hybridization (FISH) and polymerase chain reaction (PCR) analyses were performed. RESULT(S): Semen analysis showed azoospermia. Chromosome analysis revealed a 46,XX karyotype; molecular and cytogenetic analyses excluded the presence of SRY (the sex-determining region of the Y chromosome) gene. CONCLUSION(S): This case is one of the rare patients reported in the literature in whom testicular differentiation and a complete virilization in a 46,XX chromosomal constitution does not account for a translocation of the SRY gene to the X chromosome or to the autosomes. This finding suggests that other genes downstream from SRY, not yet identified, play an important role in sex determination.
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------>authors2=Wu CC
------>authors3=Chiang HS
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------>authors=Wu YN
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------>updateTitle=A 46,XX SRY-negative man with complete virilization and infertility as the main anomaly.
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------>publish_year=2009
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A B C D E F G H I J K L M N O P Q R S T U V W X Y Z