Two Males with SRY-Positive 46,XX Testicular Disorder of Sex Development

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Güneş S., Aşcı R., Okten G., Atac F., ONAT O. E., Ogur G., ...Daha Fazla

SYSTEMS BIOLOGY IN REPRODUCTIVE MEDICINE, cilt.59, sa.1, ss.42-47, 2013 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 59 Sayı: 1
  • Basım Tarihi: 2013
  • Doi Numarası: 10.3109/19396368.2012.731624
  • Dergi Adı: SYSTEMS BIOLOGY IN REPRODUCTIVE MEDICINE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.42-47
  • Anahtar Kelimeler: 46,XX Testicular DSD, mosaicism, SRY positive, XCI, X-CHROMOSOME INACTIVATION, Y-CHROMOSOME, TRUE HERMAPHRODITISM, GENE, MALENESS, DNA, MICRODELETIONS, INTERCHANGE, MOSAICISM, SEQUENCES
  • Ondokuz Mayıs Üniversitesi Adresli: Evet

Özet

The 46,XX testicular disorder of sex development (46,XX testicular DSD) is a rare phenotype associated with disorder of the sex chromosomes. We describe the clinical, molecular, and cytogenetic findings of a 16- and a 30-year-old male patient with sex-determining region Y (SRY)-positive 46,XX testicular DSD. Chromosomal analysis revealed 46,XX karyotype. Fluorescence in situ hybridization (FISH) showed the SRY region translocated to the short arm of the X chromosome. The presence of the SRY gene was also confirmed by polymerase chain reaction (PCR). The X chromosome inactivation (XCI) assay showed that both patients have a random pattern of X chromosome inactivation. This report compares the symptoms and features of the SRY-positive 46,XX testicular DSD patients.