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

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

A descriptive case report of a single patient.

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.

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.