Spontaneous pregnancies in a Turner syndrome woman with Y-chromosome mosaicism

J Assist Reprod Genet. 2004 Jun;21(6):229-30. doi: 10.1023/b:jarg.0000040239.40913.c3.


Purpose: To present a case involving pregnancies in a Turner woman with Y-chromosome mosaicism.

Method: A descriptive case report of a single patient.

Results: A 39-year-old woman was admitted to the endocrine clinic due to fatigue and premature menopause. She had tried in-vitro fertilization and oocyte donation twice without pregnancies but became spontaneously pregnant at age 36 and 37 and delivered two girls. During the seventh month of the second pregnancy, a dissecting aortic aneurysm, a coarctation, and subsequently a pheochromocytoma were detected and repaired. Hypothyroidism developed. Turner syndrome was diagnosed. Fluorescence in situ hybridization (FISH) analysis of lymphocytes revealed 31% XY cells and 4% XYY cells, while 66% of buccal cells had an XY constitution. Oophorectomy revealed no malignancy. FISH revealed 54% XY cells in the left gonad and 38% XY cells in the right.

Conclusion: Turner syndrome should be suspected in women with aortic dissection, in general, but especially in those with additional features such as horseshoe kidney, coarctation, and infertility.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosomes, Human, Y / genetics*
  • Female
  • Humans
  • Mosaicism*
  • Pregnancy
  • Turner Syndrome / genetics*