Two Males with SRY-Positive 46,XX Testicular Disorder of Sex Development
SYSTEMS BIOLOGY IN REPRODUCTIVE MEDICINE, cilt.59, sa.1, ss.42-47, 2013 (SCI-Expanded, Scopus)
- 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
- Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
- 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.