Fertility and sterility · 2004
Molecular and cytogenetic characterization of a structural rearrangement of the Y chromosome in an azoospermic man.
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Valetto Angelo, Bertini Veronica, Rapalini Erika, Baldinotti Fulvia, Di Martino Daniela, Simi Paolo
Аннотация
OBJECTIVE: To better define an abnormal karyotype found in a male with primary infertility.
DESIGN: Case report.
SETTING: Molecular and cytogenetics unit in a university-affiliated hospital.
PATIENT(S): A 41-year-old, azoospermic, but otherwise healthy male.
INTERVENTION(S): Lymphocytic karyotype and genetic counseling.
MAIN OUTCOME MEASURE(S): Metaphases were studied by standard G- and Q-banding, followed by fluorescence in situ hybridization (FISH) and polymerase chain reaction to analyze specific Y chromosome regions.
RESULT(S): Chromosomal analysis and FISH allowed us to define the propositus's karyotype as 45,X/46,X,idic(Yp)/46,XY (71%, 26%, and 3% of analyzed metaphases, respectively). Molecular analysis of azoospermic factor (AZF) regions showed deletion of AZFb and AZFc.
CONCLUSION(S): A 45,X/46,X,idic(Yp) mosaicism is associated with a very broad spectrum of phenotypes, including patients with Ullrich-Turner syndrome, patients with various degrees of genital ambiguity, or normal males. In the presence of a normal masculinization in otherwise healthy males azoospermia is a distinct feature that can be explained by partial deletion of AZF regions.
DESIGN: Case report.
SETTING: Molecular and cytogenetics unit in a university-affiliated hospital.
PATIENT(S): A 41-year-old, azoospermic, but otherwise healthy male.
INTERVENTION(S): Lymphocytic karyotype and genetic counseling.
MAIN OUTCOME MEASURE(S): Metaphases were studied by standard G- and Q-banding, followed by fluorescence in situ hybridization (FISH) and polymerase chain reaction to analyze specific Y chromosome regions.
RESULT(S): Chromosomal analysis and FISH allowed us to define the propositus's karyotype as 45,X/46,X,idic(Yp)/46,XY (71%, 26%, and 3% of analyzed metaphases, respectively). Molecular analysis of azoospermic factor (AZF) regions showed deletion of AZFb and AZFc.
CONCLUSION(S): A 45,X/46,X,idic(Yp) mosaicism is associated with a very broad spectrum of phenotypes, including patients with Ullrich-Turner syndrome, patients with various degrees of genital ambiguity, or normal males. In the presence of a normal masculinization in otherwise healthy males azoospermia is a distinct feature that can be explained by partial deletion of AZF regions.