Prevalence of the triple X syndrome in phenotypically normal women with premature ovarian failure and its association with autoimmune thyroid disorders

Fertil Steril. 2003 Oct;80(4):1052-4. doi: 10.1016/s0015-0282(03)01121-x.

Abstract

Objective: To determine the prevalence of triple X females among patients with premature ovarian failure and to describe the clinical features of the syndrome.

Design: Case report.

Setting: Tertiary care hospital.

Patient(s): Fifty-two consecutive patients with secondary amenorrhea due to premature ovarian failure and no clinical stigmata of Turner's syndrome.

Main outcome measure(s): Triple X syndrome and clinical features, as assessed by karyotype analysis using Giemsa trypsin banding of metaphase chromosomes.

Result(s): Two of the 52 patients with premature ovarian failure had triple X syndrome. Both cases had associated autoimmune thyroid disorder. One of the women with triple X syndrome had two pregnancies that were complicated by premature birth, idiopathic thrombocytopenia, neonatal death, and occipital encephalocoele.

Conclusion(s): Among patients with premature ovarian failure, 3.8% have triple X syndrome. The syndrome may be associated with autoimmune thyroid disorder and poor pregnancy outcome due to congenital malformation.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosomes, Human, X*
  • Female
  • Humans
  • Phenotype
  • Pregnancy
  • Pregnancy Outcome
  • Prevalence
  • Primary Ovarian Insufficiency / genetics*
  • Sex Chromosome Aberrations / statistics & numerical data*
  • Syndrome
  • Thyroiditis, Autoimmune / genetics*