Turner syndrome
counseling prior to oocyte donation
Keywords:
Turner syndrome, Oocyte donation, Gonadoblastoma, Counseling, Y chromosomeAbstract
Ovarian failure is a typical feature of Turner syndrome (TS). Patients are followed clinically with hormone replacement therapy (HRT) and inclusion in the oocyte donation program, if necessary. For patients with spontaneous puberty, genetic counseling regarding preimplantation genetic diagnosis and prenatal diagnosis is indicated. Patients with dysgenetic gonads and a Y chromosome are at increased risk of developing gonadoblastoma. Even though this is not an invasive tumor, its frequent association with other malignant forms justifi es prophylactic gonadectomy. It is important to perform gonadectomy before HRT and pregnancy with oocyte donation. Among patients with TS stigmata and female genitalia, many have the Y chromosome in one of the cell lines. For this reason, all patients should undergo cytogenetic analysis. Nevertheless, in cases of structural chromosomal alterations or hidden mosaicism, the conventional cytogenetic techniques may be ineffective and molecular investigation is indicated. The author proposes a practical approach for investigating women with TS stigmata in whom identifi cation of the X or Y chromosome is important for clinical management and follow-up.
Downloads
References
Ranke MB, Saenger P. Turner’s syndrome. Lancet. 2001;358(9278):309-14.
Abir R, Fisch B, Nahum R, Orvieto R, Nitke S, Ben Rafael
Z. Turner’s syndrome and fertility: current status and possible putative prospects. Hum Reprod Update. 2001;7(6):603-10.
Larsen T, Gravholt CH, Tillebeck A, et al. Parental origin of the X chromosome, X chromosome mosaicism and screening for “hidden” Y chromosome in 45,X Turner syndrome ascertained cytogenetically. Clin Genet. 1995;48(1):6-11.
Coto E, Toral JF, Menendez MJ, et al. PCR-based study of the presence of Y-chromosome sequences in patients with Ullrich- Turner syndrome. Am J Med Genet. 1995;57(3):393-6.
Jorgensen N, Muller J, Jaubert F, Clausen OP, Skakkebaek NE. Heterogeneity of gonadoblastoma germ cells: similarities with immature germ cells, spermatogonia and testicular carcinoma in situ cells. Histopathology. 1997;30(2):177-86.
Verp MS, Simpson JL. Abnormal sexual differentiation and neoplasia. Cancer Genet Cytogenet. 1987;25(2):191-218.
Hasle H, Olsen JH, Nielsen J, Hansen J, Friedrich U, Tommerup
N. Occurrence of cancer in women with Turner syndrome. Br J Cancer. 1996;73(9):1156-9.
Gravholt CH, Fedder J, Naeraa RW, Muller J. Occurrence of gonadoblastoma in females with Turner syndrome and Y chromosome material: a population study. J Clin Endocrinol Metab. 2000;85(9):3199-202.
Page DC. Hypothesis: a Y-chromosomal gene causes gonado- blastoma in dysgenetic gonads. Development. 1987;101(Sup- pl):151-5.
Tsuchiya K, Reijo R, Page DC, Disteche CM. Gonadoblastoma: molecular definition of the susceptibility region on the Y chro- mosome. Am J Hum Genet. 1995;57(6):1400-7.
Vogel T, Schmidtke J. Structure and function of TSPY, the Y-chromosome gene coding for the “testis-specific protein”. Cytogenet Cell Genet. 1998;80(1-4):209-13.
Lau YF. Gonadoblastoma, testicular and prostate cancers, and the TSPY gene. Am J Hum Genet. 1999;64(4):921-7.
Lau YF, Lau HW, Komuves LG. Expression pattern of a gonado- blastoma candidate gene suggests a role of the Y chromosome in prostate cancer. Cytogenet Genome Res. 2003;101(3-4):250-60.
Hook EB. Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limit and comments on use. Am J Hum Genet. 1977;29(1):94-7.
Verma R, Babu A. Human chromosomes: principles and tech- niques. 2nd edition. New York: McGraw-Hill Inc; 1995.
Ramos ES, Moreira-Filho CA, Vicente YA, et al. SRY-negative true hermaphrodites and an XX male in two generations of the same family. Hum Genet. 1996;97(5):596-8.
Bartmann AK, Ramos ES, Caetano LC, Rios AF, Vila RA. TSPY detection in blood, buccal, and urine cells of patients with 45,X karyotype. Am J Med Genet A. 2004;130(3):320-1.
Yorifuji T, Muroi J, Kawai M, Sasaki H, Momoi T, Furusho K. PCR-based detection of mosaicism in Turner syndrome patients. Hum Genet. 1997;99(1):62-5.
Talerman A, Haije WG, Baggerman L. Serum alphafetoprotein (AFP) in diagnosis and management of endodermal sinus (yolk sac) tumor and mixed germ cell tumor of the ovary. Cancer. 1978;41(1):272-8.
Schanne FJ, Cooper CS, Canning DA. False-positive pregnancy test associated with gonadoblastoma. Urology. 1999;54(1):162.
Muller J, Ritzen EM, Ivarsson SA, Rajpert-De Meyts E, Norjava- ara E, Skakkebaek NE. Management of males with 45,X/46,XY gonadal dysgenesis. Horm Res. 1999;52(1):11-4.
Slowikowska-Hilczer J, Romer TE, Kula K. Neoplastic potential of germ cells in relation to disturbances of gonadal organogenesis and changes in karyotype. J Androl. 2003;24(2):270-8.
Bodri D, Vernaeve V, Figueras F, Vidal R, Guillen JJ, Coll O. Oocyte donation in patients with Turner’s syndrome: a successful technique but with an accompanying high risk of hypertensive disorders during pregnancy. Hum Reprod. 2006;21(3):829-32.
