Premature ovarian failure due to tetrasomy X in an adolescent girl

Kara C., Utyol A., Yılmaz A., Altundağ E., Ogur G.

EUROPEAN JOURNAL OF PEDIATRICS, cilt.173, sa.12, ss.1627-1630, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 173 Sayı: 12
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1007/s00431-013-2209-y
  • Dergi Adı: EUROPEAN JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1627-1630
  • Anahtar Kelimeler: 48,XXXX, QF-CR, Premature ovarian failure, Amenorrhea, Mental retardation, CHROMOSOME TETRASOMY, PENTASOMY
  • Ondokuz Mayıs Üniversitesi Adresli: Evet

Özet

Tetrasomy X associated with premature ovarian failure has been described in a few patients, and the parental origin of the extra X chromosomes has not been investigated so far in this group. A 15-year-old girl with mental retardation and minor physical anomalies showed secondary amenorrhea, high gonadotropin levels, and osteoporosis. Molecular analysis of the fibroblast cells revealed pure 48,XXXX constitution despite 48,XXXX/47,XXX mosaicism in peripheral blood. Analysis of the polymorphic markers (X22, DXYS218, DXYS267, HPRT) on the X chromosome by the quantitative fluorescent polymerase chain reaction (QF-PCR) method demonstrated that the extra X chromosomes were maternal in origin. Conclusion: Patients with tetrasomy X syndrome should be screened for ovarian insufficiency during early adolescence because hormone replacement therapy may be required for prevention of osteoporosis. In order to understand a potential impact of the parental origin of the extra X chromosomes on ovarian development and function, further studies are needed.