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

Landin-Wilhelmsen, Kerstin,1952Gothenburg University,Göteborgs universitet,Institutionen för invärtesmedicin,Institute of Internal Medicine (author)

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.

Bryman, IngerGothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa,Institute for the Health of Women and Children(Swepub:gu)xbryin (author)
Hanson, Charles,1958Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för obstetrik och gynekologi,Institute for the Health of Women and Children, Dept of Obstetrics and Gynaecology(Swepub:gu)xhchaq (author)
Hanson, Lars Åke,1934Gothenburg University,Göteborgs universitet,Institutionen för laboratoriemedicin, Avdelningen för klinisk immunologi,Institute of Laboratory Medicine, Dept of Clinical Immunology(Swepub:gu)xhlart (author)
Göteborgs universitetInstitutionen för invärtesmedicin (creator_code:org_t)

By the author/editor: Landin-Wilhelmse ...; Bryman, Inger; Hanson, Charles, ...; Hanson, Lars Åke ...

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