Cytogenetic and clinical studies of a male infant with disorder of sexual development: case report

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dc.contributor.authorBalkan, Mahmut
dc.contributor.authorDuran, Hatun
dc.contributor.authorOnen, Abdurrahman
dc.contributor.authorOral, Diclehan
dc.contributor.authorIsi, Hilmi
dc.contributor.authorFIdanboy, Mehmet
dc.contributor.authorAlp, M. Nail
dc.date.accessioned2024-04-24T16:11:31Z
dc.date.available2024-04-24T16:11:31Z
dc.date.issued2008
dc.departmentDicle Üniversitesien_US
dc.description.abstractObjective: To report a translocation between chromosomes 3 and 4: 46, XY, t(3; 4)(p25; q31.3) in a male infant with a disorder of sexual development. Design: Case report. Setting: University hospital. Patient(s): A 1-year-old infant who presented with abnormal location of the urethral meatus. Intervention(s): Cytogenetic analysis, fluorescence in situ hybridization (FISH), and serum concentrations measurement (using peripheral blood), and clinical examination. Main Outcome Measure(s): Karyotype and clinical findings. Result(s): On clinical examination, bilateral testicular volume and phallus were determined to be undersized. Serum concentrations of T and DHEAS were low. G-banding of his chromosomes showed that the patient had a balanced translocation involving chromosomes 3 and 4: 46, XY, t(3; 4)(p25; q31.3). This karyotype finding was confirmed by FISH. The FISH analysis revealed the presence of sex-determining region (SRY). The proband inherited this translocation from his father. His sister had the same translocation. However, the father and sister of the proband were clinically normal. Conclusion(s): The presence of this chromosomal anomaly and hypospadias was unique to our patient compared with others with the 46, XY, t(3; 4) translocation. Although no such association has been reported to date, we think that the severe hypospadias in our case might be associated with this translocation. (Fertil Steril (R) 2008; 90: 2003. e13-e16. (C)2008 by American Society for Reproductive Medicine.)en_US
dc.identifier.doi10.1016/j.fertnstert.2008.03.030
dc.identifier.issn0015-0282
dc.identifier.issn1556-5653
dc.identifier.issue5en_US
dc.identifier.pmid18691707
dc.identifier.scopus2-s2.0-55149118941
dc.identifier.scopusqualityQ1
dc.identifier.urihttps://doi.org/10.1016/j.fertnstert.2008.03.030
dc.identifier.urihttps://hdl.handle.net/11468/15420
dc.identifier.volume90en_US
dc.identifier.wosWOS:000207699900004
dc.identifier.wosqualityQ1
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherElsevier Science Incen_US
dc.relation.ispartofFertility and Sterility
dc.relation.publicationcategoryDiğeren_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectDisorders Of Sexual Developmenten_US
dc.subjectHypospadiasen_US
dc.subjectTranslocationen_US
dc.subjectChromosomeen_US
dc.subjectSryen_US
dc.titleCytogenetic and clinical studies of a male infant with disorder of sexual development: case reporten_US
dc.titleCytogenetic and clinical studies of a male infant with disorder of sexual development: case report
dc.typeEditorialen_US

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