Abstract
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.
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Landin-Wilhelmsen, K., Bryman, I., Hanson, C. et al. Short Communication: Spontaneous Pregnancies in a Turner Syndrome Woman with Y-Chromosome Mosaicism. J Assist Reprod Genet 21, 229–230 (2004). https://doi.org/10.1023/B:JARG.0000040239.40913.c3
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DOI: https://doi.org/10.1023/B:JARG.0000040239.40913.c3