Spontaneous Pregnancies in a Turner Syndrome Woman with Y-Chromosome

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 en-docrine clinic due to fatigue and premature menopause. She had tried in-vitro fertilization and oocyte donation twice without pregnancies but became spontaneously preg-nant 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 pheochromo-cytoma were detected and repaired. Hypothyroidism de-veloped. 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 malig-nancy. 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