Yunus Emre TOPDAĞI, Ali İrfan GÜZEL, Emsal Pınar TOPDAĞI YILMAZ, Seray KAYA TOPDAĞ

Report of a pregnant woman with mosaic Turner syndrome

Spontaneous pregnancy in women with Turner syndrome is rare (5%) and relatively high risk. A number of methods to preserve fertility in such women have been discussed. Careful follow-up is required during these pregnancies due to the high incidence rates of neonatal, obstetric, maternal, and cardiovascular complications. A 39-year-old multigravid woman (G5, P3, A2) with mosaic Turner syndrome with a history of three spontaneous pregnancies and two miscarriages was evaluated at our clinic. The analysis showed mos 45,X [9]/46,XX [38] mosaic Turner syndrome. Her first and fourth pregnancies resulted in miscarriages during the first trimester. Here, we discuss a pregnant woman with mosaic Turner syndrome with unaffected fertility but with a history of spontaneous pregnancies/miscarriages, with reference to the current literature.

PDF

___

1. Nussbaum RL. Thompson and Thompson Genetics in Medicine. 6th ed. WB Saunders Company; 2001. p. 172–5.
2. Noor M, Abdullah S, Mahmood S. Turner’s syndrome. Gomal J Med Sci 2007;5:33–7.
3. Güneş S, Kara N, Sürücü B, et al. Two turner syndrome patients with the mosaic 45, X/46, X,I (Xq) Karyotipe: Case report. Turk Klin J Med Sci 2008;28:236–8.
4. Soenger P. Turner’s syndrome. N Engl J Med 1996;335:1749–54.
5. Melmed S, Koenig R, Rosen C, Auchus R, Goldfine A. Disorders of sex development. In: William’s Textbook of Endocrinology. Philadelphia, PA: Saunders; 2008. p. 783–848.
6. Bryman I, Sylven L, Berntorp K, Innala E, Bergström I, Hanson C, et al. Pregnancy rate and outcome in Swedish women with Turner syndrome. Fertil Steril 2011;95(8):2507–10.
7. Rapaport R. Hypofunction of the ovaries. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, editors. Nelson Textbook of Pediatrics. 18th ed. Philadephia, PA: Saunders; 2008. p. 2316-40.
8. Jacobs P, Dalton P, James R, Mosse K, Power M, Robinson D, et al. Turner syndrome: A cytogenetic and molecular study. Ann Hum Genet 1997;61(6):471–83.
9. Hadnott TN, Gould HN, Gharib AM, Bondy CA. Outcomes of spontaneous and assisted pregnancies in Turner syndrome: The US national institutes of health experience. Fertil Steril 2011;95(7):2251–6.
10. Doğer E, Çakıroğlu Y, Ceylan Y, Ulak E, Özdamar O, Çalışkan E. Reproductive and obstetric outcomes in mosaic Turner’s syndrome: A cross-sectional study and review of the literature. Reprod Biol Endocrinol 2015;13:59.
11. Bernard V, Donadille B, Zenaty D, Courtillot C, Salenave S, de la Perrière AB, et al. Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome. Hum Reprod 2016;31(4):782–8.
12. Birkebaek NH, Crüger D, Hansen J, Nielsen J, Bruun-Petersen G. Fertility and pregnancy outcome in Danish women with Turner syndrome. Clin Genet 2002;61(1):35–9.
13. Sahinturk S, Sag SO, Ture M, Gorukmez O, Topak A, Yakut T, et al. A fertile patient with 45X/47XXX mosaicism. Genet Couns 2015;26(1):29–34.
14. Alves C, Silva SF. Spontaneous procreation in Turner syndrome: Report of two pregnancies in the same patient. Syst Biol Reprod Med 2012;58(2):113–5.
15. Vieira CA, Fontenele EG, Albuquerque AM, Quezado R. Síndrome de Turner desfecho de uma gestação spontânea. Rev Med UFC 2017;57(2):69–72.