Turner's syndrome and pregnancy: Has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review

Journal of Maternal-Fetal and Neonatal Medicine

Volumn 24, Issue 5, 2011, Pages 668-672

  Bouchlariotou, Sofia ^a   Tsikouras, Panagiotis ^a   Dimitraki, Marina ^a   Athanasiadis, Apostolos ^b   Papoulidis, Ioannis ^b   Maroulis, George ^a   Liberis, Anastasios ^a   Liberis, Vasileios ^a  

^a DEMOCRITUS UNIVERSITY OF THRACE   (Greece)

^b ARISTOTLE UNIVERSITY OF THESSALONIKI   (Greece)

Author keywords

45,X 46,XXX mosaicism; Fertility; Turner's syndrome

Indexed keywords

ANTIBIOTIC AGENT; NITROGEN; POTASSIUM; UREA;

ABDOMINAL RADIOGRAPHY; ADULT; BLOOD FLOW VELOCITY; CASE REPORT; CESAREAN SECTION; CHROMOSOME MOSAICISM; CHROMOSOME STRUCTURE; CLINICAL FEATURE; CYTOGENETICS; DISSEMINATED INTRAVASCULAR CLOTTING; DOPPLER FLOWMETRY; ECHOGRAPHY; ELECTROCARDIOGRAM; FEMALE; FETUS DEATH; FETUS DISEASE; FETUS MOVEMENT; GESTATIONAL AGE; HUMAN; KARYOTYPE 45,X; KARYOTYPE 46,XY; KARYOTYPE 47,XXX; KARYOTYPING; KIDNEY FAILURE; M MODE ECHOCARDIOGRAPHY; MENARCHE; MENSTRUAL CYCLE; MENTAL DEVELOPMENT; NEUROLOGIC EXAMINATION; NEWBORN SEPSIS; OLIGOHYDRAMNIOS; PELVIC EXAMINATION; PHYSICAL DEVELOPMENT; PHYSICAL EXAMINATION; POTASSIUM BLOOD LEVEL; PREGNANCY; PREGNANCY OUTCOME; PRIORITY JOURNAL; PROGNOSIS; RESPIRATORY DISTRESS; REVIEW; SEPSIS; TURNER SYNDROME; TWO DIMENSIONAL ECHOCARDIOGRAPHY; UMBILICAL ARTERY; UREA NITROGEN BLOOD LEVEL;

ADULT; CHROMOSOMES, HUMAN, X; FEMALE; FERTILITY; FETAL GROWTH RETARDATION; HUMANS; MOSAICISM; PREGNANCY; PROGNOSIS; TRISOMY; TURNER SYNDROME;

EID: 79953873712     PISSN: 14767058     EISSN: 14764954     Source Type: Journal    
DOI: 10.3109/14767058.2010.520769     Document Type: Review

References (38)

1. Nielson J, Wohlet TM. Chromosome abnormalities found among 34910 newborn children: Results from a 13 year incidence study in Arhus, Denmark. Hum Genet 1991;87:81-83.
2. Saenger P. Turner's syndrome. N Eng J Med 1996;335:1749-1754. (Pubitemid 26399351)
3. Sybert VP. Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome. J Med Genet 2002;39:217-221. (Pubitemid 34252564)
4. Hovatta O. Pregnancies in women with Turner's syndrome. Ann Med 1999;31:106-110. (Pubitemid 29209865)
5. Novak AZ, Kokai GK, Popovic VP, et al. Interphase cytogenetics on paraffin-embedded sections of ovary for detection of genomic constitution in a patient with Turner's syndrome and chromosomal mosaicism. Hum Genet 1995;95:293-298.
6. Hent L, Devroey P, Van Waesberghe L, et al. Chromosome studies and fertility treatment in women with ovarian failure. Clinic Genet 1989;36:81-91. (Pubitemid 19186703)
7. Kaneko N, Kawagoe S, Hiroi M. Turner's syndrome - review of the literature with reference to a successful pregnancy outcome. Gynecol Obstet Invest 1990;29:81-87. (Pubitemid 20113470)
8. Jacobs PA, Baikie AG, Court-Brown WM. Evidence for the existence of the human 'super female'. Lancet 1959;2:423-425.
9. Ogata T, Matsuo N. Turner syndrome and female sex chromosome aberrations: Deduction of the principal factors involved in the development of clinical features. Hum Genet 1995;95:607-629.
10. Simpson JL, Elias S. Sex chromosomal polysomies (47,XXY; 47,XYY; 47,XXX), sex reversed (46,XX) males, and disorders of the male reproductive ducts. In Simpson JL, Elias S, editors. Genet Obstet Gynacol. Philadelphia: Saunders, pp 323-341.
11. Layman LC. Human gene mutations causing infertility. JMed Genet 2002;39:153-161. (Pubitemid 34252550)
12. Speroff L, Glass RH, Kase NG. Assisted reproduction. In: Speroff L, Glass RH, Kase NG, editors. Clin Gynecol Endocrinol Infertil. Baltimore: Lippincott Williams&Wilkins, p 1144.
13. Tarani L, Lampariello S, Raguso G, et al. Pregnancy in patients with Turner syndrome: Six new cases and review of literature. Gynecol Endocrinol 1998;12:83-87. (Pubitemid 28230356)
14. Simpson JL, Rajkovic A. Ovarial differentiation and gonadal failure. Am J Med Genet 1999;89:186-200.
15. Therman KE, Laxova R, Susman B, et al. The critical region on the human Xq. Hum Genet 1990;85:455-461.
16. Ogata T, Matsuo N. Turner syndrome and female sex chromosome aberrations: Deduction of the principal factors involved in the development of clinical failure as a result of cancer therapy. Hum Reprod Update 1995;7:139-174.
17. Pasqualini-Adamo J. Turner's syndrome and pregnancy. Rev Fr Gynecol Obstet 1988;83:717-721.
18. Taga M, Minaguchi H, Saotome K. Two pregnancies in a 45,X/46, Xr(X)/46,XX Turner mosais patient. A case report. Gynaecol Obstet Invest 1996;42:206-208. (Pubitemid 26354091)
19. Birkebaek NH, Crüger D, Hansen J, et al. Fertility and pregnancy outcome in Danish women with Turner syndrome. Clin Genet 2002;61:35-39. (Pubitemid 36372600)
20. Schwack M, Schindler AE. Turner's syndrome (monosomy) and pregnancy. Zentrabl Gynakol 2000;122:103-105.
21. Verschragen-Spae MR, Depypere H, Speleman F, et al. Familiar Turner syndrome. Clin Genet 1992;41:218-220.
22. Philip J, Sele V. 45, XO Turner's syndrome without evidence of mosaicism in a patient with two pregnancies. Acta Obstet Gynaecol Scand 1976;55:283-286.
23. Magee AC, Nevin NC, Armstrong MJ, et al. Ullrich Turner syndrome: Seven pregnancies in an apparent 45,X woman. Am J Med Genet 1998;75:1-3. (Pubitemid 28027961)
24. Ayuso MC, Bello MJ, Benitez J, et al. Two fertile Turner women in a family. Clin Genet 1984;26:591-594.
25. Abir R, Fisch B, Nahum R, et al. Turner's syndrome and fertility: Current status and possible putative prospects. Hum Reprod Update 2001;7:603-610. (Pubitemid 33069619)
26. Cohen MA, Sauer M and Lindheim SR. 21-hydroxylase deficiency and Turner's syndrome: A reason for diminished endometrial receptivity. Fertil Steril 1999;72:937-939. (Pubitemid 29505463)
27. Borgström B, Hreinsson J, Rasmussen C, et al. Fertility preservation in girls with Turner syndrome: Prognostic sings of the presence of ovarian follicles. J Clin Endocrinol Metab 2009;94:74-80.
28. Foudila T, Soderstrom-Anttila V, Hovatta O. Turner's syndrome and pregnancies after oocyte donation. Hum Reprod 1999;14:532-535. (Pubitemid 29097413)
29. Ornoy A, Abir R. Recurrent (habitual) abortions: Incidence, etiology, and prevention. Iss Rev Teratol 1994;7:139-174.
30. Kleczkowska A, Dmoch E, Kubein E, et al. Cytogenetic findings in a consecutive series of 478 patients with Turner syndrome. The Leuven experience 1965-1989. Genet Couns 1990;1:227-233.
31. Robinson WP, Binkert F, Bernasconi F, et al. Molecular studies of chromosomal mosaicism: Relative frequency of chromosome gain or loss and possible role of cell selection. Am J Hum Genet 1990;56:444-451.
32. Tucker T, Haskins OA, Zaleski D, et al. Prenatal and followup studies in 45,X/47,XXX mosaicism. In: Poster presentations. Omaha, NE: Munroe-Meyer Institute, University of Nebraska Medical Center.
33. Akbas BE, Mutluhan H, Savasoglu K, et al. Turner syndrome and 45,X/47,XXX mosaicism. Genet Counsel 2009;20:141-146.
34. Tauchmanova L, Rossi R, Pulcrano M, et al. Turner's syndrome mosaicism 45,X/47,XXX: An interesting natural history. J Endocrinol Invest 2001;24:811-815. (Pubitemid 33120977)
35. Mazzocco MM. A process approach to describing mathematics difficulties in girls with Turner syndrome. Pediatrics 1998;102:492-496. (Pubitemid 28363700)
36. Bender BG, Harmon RJ, Linden MG, et al. Psychosocial competence of unselected young adults with sex chromosome abnormalities. Am J Med Genet 1999;88:200-206. (Pubitemid 29156460)
37. Blair J, Tolmie J, Hollman AS, et al. Phenotype, ovarian function and growth in patients with 45,X/47,XXX Turner mosaicism: Implications for prenatal counseling and estrogen therapy at puberty. J Pediartr 2001;139:724-728. (Pubitemid 33097440)
38. Grumbach MM, Conte F. Disorders in sex differentiation. In: Wilson JD, Foster DW, editors. Williams text-book of endocrinology, 8th ed. Philadelphia: WB Saunders, p 853.