Turner Sendromunda Fertilite Durumu ve İnfertilite Hemşiresinin Rolleri

Yıl 2020, Cilt: 2 Sayı: 3, 158 - 174, 22.12.2020

Meryem Öngen Fatma Başar

https://doi.org/10.46413/boneyusbad.792458

Öz

Turner Sendromu, gonozomlardaki X kromozomlarından birinin tam veya kısmi kaybı ya da 46,XY kromozomlu fetüslerde Y kromozomu kaybı sonucunda gelişen kromozomal bir bozukluktur. Turner Sendromlu olguların yaklaşık %50’sinde 45,X karyotip bulunmaktadır ve bu olguların çoğunda prematür ovaryen yetmezlik durumu mevcut olabilir. Olguların sadece %10’unda spontan pubertel gelişimin tamamlanabildiği ve %2’sinde spontan gebeliğin oluşabildiği bildirilmiştir. Turner Sendromu, üreme sistemi ve diğer sistemler üzerindeki etkileri düşünüldüğünde dikkatli bir şekilde ele alınması gereken önemli bir kromozomal anomalidir. Sendromun tipine bağlı olarak spontan menarş ve gebelik gelişebileceği gibi hormon replasmanı ve/veya yardımcı üreme teknikleri yardımıyla da fertilite sağlanabilmektedir. İnfertilite hemşirelerinin, yardımcı üreme teknikleri ile tedavi gören Turner Sendromlu bireylerin bilgi ihtiyaçlarını gidermeleri ve bireyleri gerekli psikolojik ve psikoseksüel destek alabilecekleri kaynaklara yönlendirmeleri gerekmektedir.

Anahtar Kelimeler

Fertilite, Gebelik, Hemşirelik, Turner sendromu

Fertility Status in Turner Syndrome and The Roles of The Infertility Nurse

Öz

Turner Syndrome is a chromosomal disorder that develops as a result of the complete or partial loss of one of the X chromosomes in the gonosomes or the loss of the Y chromosome in fetuses with 46, XY chromosomes. Approximately 50% of the syndromed cases have 45, X karyotype and premature ovarian failure may be present in most of these cases. It has been reported that spontaneous pubertal development can be completed in only 10% of the cases and spontaneous pregnancy can occur in 2%. Turner Syndrome is an important chromosomal abnormality that should be handled carefully considering its effects on the reproductive system and other systems. Depending on the type of the syndrome, spontaneous menarche and pregnancy can develop, as well as fertility can be achieved with the help of hormone replacement and/or assisted reproductive techniques. Infertility nurses need to meet the information needs of individuals with Turner Syndrome who are treated with assisted reproductive techniques and direct them to the resources they can get necessary psychological and psychosexual support.

Anahtar Kelimeler

Fertility, Pregnancy, Nursing, Turner sydrome

Kaynakça

• Adachi, M., Tachibana, K., Asakura, Y., Muroya, K., & Ogata, T. (2000). Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features. Hum Genet, 106, 306-10.
• Al Alwan, I., Khadora, M., Amir, I., Nasret, G., Omair, A., Brown, L., et al. (2014). Turner Syndrome Genotype and phenotype and their effect on presenting features and timing of Diagnosis. Int J Health Sci, 8 (2), 195-202.
• Alvaro Mercadal, B., Imbert, R., Demeestere, I., Englert, Y., & Delbaere, A. (2011). Pregnancy outcome after oocyte donation in patients with Turner's syndrome and partial X monosomy. Hum Reprod, 26 (8), 2061-8.
• Balen, A. H., Harris, S. E., Chambers, E. L., & Picton, H. M. (2010). Conservation of fertility and oocyte genetics in a young woman with mosaic Turner syndrome. BJOG, 117 (2), 238-42.
• Bernard, V., Donadille, B., Zenaty, D., Courtillot, C., Salenave, S., Brac de la Perriere, A., et al. (2016). Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome. Hum Reprod, 31 (4), 782-8.
• Birkebaek, N. H., Cruger, D., Hansen, J., Nielsen, J., & Bruun-Petersen, G. (2002). Fertility and pregnancy outcome in Danish women with Turner syndrome. Clin Genet, 61 (1), 35-9.
• Blair, J., Tolmie, J., Hollman, A. S., & Donaldson, M. D. (2001). Phenotype, ovarian function, and growth in patients with 45,X/47,XXX Turner mosaicism: implications for prenatal counseling and estrogen therapy at puberty. J Pediatr, 139 (5), 724-28.
• Blumenthal, A. L., & Allanson, J. E. (1997). Turner syndrome in a mother and daughter: r(X) and fertility. Clin Genet, 52 (3), 187-91.
• Bodri, D., Vernaeve, V., Figueras, F., Vidal, R., Guillén, J. J., & Coll, O. (2006). Oocyte donation in patients with Turner's syndrome: a successful technique but with an accompanying high risk of hypertensive disorders during pregnancy. Hum Reprod, 21 (3), 829-32.
• Boivin, J. (2003). A review of psychosocial interventions in infertility. Soc Sci Me, 57 (12), 2325-41.
• Bondy, C. A. (2007). Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab, 92 (1), 10-25.
• Borgström, B., Hreinsson, J., Rasmussen, C., Sheikhi, M., Fried, G., Keros, V., et al. (2009). Fertility preservation in girls with turner syndrome: prognostic signs of the presence of ovarian follicles. J Clin Endocrinol Metab, 94 (1), 74-80.
• Broer, S. L., Broekmans, F. J., Laven, J. S., & Fauser, B. C. (2014). Anti-Mullerian hormone: ovarian reserve testing and its potential clinical implications. Hum Reprod Update, 20 (5), 688-701.
• Bryman, I., Sylven, L., Berntorp, K., Innala, E., Bergstrom, I., Hanson, C., et al. (2011). Pregnancy rate and outcome in Swedish women with Turner syndrome. Fertil Steril, 95 (8), 2507-10.
• Cadoret, F., Parinaud, J., Bettiol, C., Pienkowski, C., Letur, H., Ohl, J., et al. (2018). Pregnancy outcome in Turner syndrome: A French multi-center study after the 2009 guidelines. Eur J Obstet Gynecol Reprod Biol, 229, 20-25.
• Costa, T., Lambert, M., Teshima, I., Ray, P. N., Richer, C. L., & Dallaire, L. (1998). Monozygotic twins with 45,X/46,XY mosaicism discordant for phenotypic sex. Am J Med Genet, 75 (1), 40-4.
• Çeri, Ö., Yılmaz, A., & Soykan, A. (2008). Cinsel işlev bozuklukları. Türkiye Klinikleri J Psychiatry-Special Topics, 1 (2), 71-8.
• Doğer, E., Çakıroğlu, Y., Ceylan, Y., Ulak, E., Özdamar, Ö., & Çalışkan, E. (2015). Reproductive and obstetric outcomes in mosaic Turner’s Syndrome: a cross-sectional study and review of the literature. Reproduc Biol Endocrinol, 13, 59.
• Dolega, Z., Jez, W., & Irzyniec, T. (2014). The cohort effect in studies related to differences in psychosocial functioning of women with Turner syndrome. Endokrynol Pol, 65 (4), 287-94.
• El-Shawarby, S.A., Sharif, F., Conway, G., Serhal, P., & Davies, M. (2010). Oocyte cryopreservation after controlled ovarian hyperstimulation in mosaic Turner syndrome: another fertility preservation option in a dedicated UK clinic. BJOG, 117 (2), 234-7.
• Elsheikh, M., Dunger, D. B., Conway, G. S., & Wass, J. A. (2002). Turner's syndrome in adulthood. Endocrine Reviews, 23 (1), 120-40.
• Ford, C. E., Jones, K. W., Polani, P. E., De Almeida, J. C., & Briggs, J. H. (1959). A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome). Lancet, 1 (7075):711-713.
• Foudila, T., Söderström-Anttila, V., & Hovatta, O. (1999). Turner's syndrome and pregnancies after oocyte donation. Hum Reprod, 14 (2), 532-5.
• Gil, M. M., Quezada, M. S., Revello, R., Akolekar, R., & Nicolaides, K. H. (2015). Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol, 45 (3), 249-266.
• Glass, I. A., Rauen, K. A., Chen, E., Parkes, J., Alberston, D. G., Pinkel, D., et al. (2006). Ring chromosome 15: characterization by array CGH. Hum Genet, 118 (5), 611-617.
• Göngör, İ., & Kızılkaya-Beji, N. (2015). İnfertilite hemşirelerinin gelişen rolleri ve sertifikasyon gereksinimi. F N Hem Derg, 23 (2), 152-9.
• Gravholt CH. Epidemiological, endocrine and metabolic features in Turner syndrome. Eur J Endocrinol. 2004;151(6):657-87.
• Gravholt, C. H., Andersen, N. H., Conway, G. S., Dekkers, O. M., Geffner, M. E., Klein, K. O., et al. (2017). Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol, 177 (3), G1-70.
• Grynberg, M., Bidet, M., Benard, J., Poulain, M., Sonigo, C., Cedrin-Durnerin, I., et al. (2016). Fertility preservation in Turner syndrome. Fertil Steril, 105 (1), 13-19.
• Gunther, D. F., Eugster, E., Zagar, A. J., Bryant, C. G., Davenport, M. L., & Quigley, C. A. (2004). Ascertainment bias in Turner syndrome: new insights from girls who were diagnosed incidentally in prenatal life. Pediatrics, 114 (3), 640-644.
• Hadnott, T. N., Gould, H. N., Gharib, A. M., & Bondy, C. A. (2011). Outcomes of spontaneous and assisted pregnancies in Turner syndrome: The U.S. National Institutes of Health experience. Fertil Steril, 95 (7), 2251-6.
• Hagen, C. P., Aksglaede, L., Sorensen, K., Main, K. M., Boas, M., Cleemann, L., et al. (2010). Serum levels of anti-Mullerian hormone as a marker of ovarian function in 926 healthy females from birth to adulthood and in 172 Turner syndrome patients. J Clin Endocrinol Metab, 95 (11), 5003-10.
• Hagen, C. P., Main, K. M., Kjaergaard, S., & Juul, A. (2010). FSH, LH, inhibin B and estradiol levels in Turner syndrome depend on age and karyotype: longitudinal study of 70 Turner girls with or without spontaneous puberty. Hum Reprod, 25 (12), 3134-41.
• Harel, T., Pehlivan, D., Caskey, C. T., & Iupski, J. R. (2015). Mendelian, Non-Mendelian, Multigenic Inheritance, and Epigenetics. 5th ed. p. 3-27.
• Hockner, M., Utermann, B., Erdel, M., Fauth, C., Utermann, G., & Kotzot, D. (2008). Molecular characterization of a de novo ring chromosome 6 in a growth retarded but otherwise healthy woman. Am J Med Genet A, 146a (7), 925-929.
• Hovatta, O. (1999). Pregnancies in women with Turner's syndrome. Annals of Medicine, 31 (2), 106-10.
• Hynes, G. J., Callan, V. J., Terry, D. J., & Gallois, C. (1992). The psychological well-being of infertile women after a failed IVF attempt: the effects of coping. Br J Med Psychol, 65 ( Pt 3), 269-78.
• Kara, N., Ökten, G., Tural, Ş., Artan, S., Sezer, Ö., & Koçak, İ. (2011). Mozaik 45,X/46,X,der(X) karyotipi saptanan primer amenoreli bir olguda Trizomi Xq ve delesyon Xp fenotipi. Turkiye Klinikleri J Med Sci, 31 (3), 706-11.
• Kavlak, O. (2015). İnfertilite. In A. Şirin, O. Kavlak (Eds). Kadın Sağlığı. (2. Baskı). İstanbul: Nobel Tıp Kitabevleri; 206-15.
• Kelsey, T. W., Wright, P., Nelson, S. M., Anderson, R. A., & Wallace, W. H. (2011). A validated model of serum anti-mullerian hormone from conception to menopause. PloS One, 6 (7), e22024.
• Khastgir, G., Abdalla, H., Thomas, A., Korea, L., Latarche, L., & Studd, J. (1997). Oocyte donation in Turner's syndrome: an analysis of the factors affecting the outcome. Hum Reprod, 12 (2), 279-85.
• Llanes, M. R. V., & Uyking-Naranjo, M. (2019). Isochromosome Mosaic Turner Syndrome: A Case Report. Journal of the ASEAN Federation of Endocrine Societies, 34 (2), 220-5.
• Mercer, C. L., Lachlan, K., Karcanias, A., Affara, N., Huang, S., Jacobs, P. A., et al. (2013). Detailed clinical and molecular study of 20 females with Xq deletions with special reference to menstruation and fertility. Eur J Med Genet, 56 (1), 1-6.
• Modi, D. N., Sane, S., & Bhartiya, D. (2003). Accelerated germ cell apoptosis in sex chromosome aneuploid fetal human gonads. Mol Hum Reprod, 9 (4), 219-225.
• Newberg, M. T., Francisco, R. G., Pang, M. G., Brugo, S., Doncel, G. F., Acosta, A. A., et al. (1998). Cytogenetics of somatic cells and sperm from a 46,XY/45,X mosaic male with moderate oligoasthenoteratozoospermia. Fertil Steril, 69 (1), 146-8.
• Oktay, K., Rodriguez-Wallberg, K. A., & Sahin, G. (2010). Fertility preservation by ovarian stimulation and oocyte cryopreservation in a 14-year-old adolescent with Turner syndrome mosaicism and impending premature ovarian failure. Fertil Steril, 94 (2), 753.e15-9.
• Pasquino AM, Passeri F, Pucarelli I, Segni M, Municchi G. Spontaneous pubertal development in Turner's syndrome. Italian Study Group for Turner's Syndrome. J Clin Endocrinol Metab. 1997;82(6):1810-3.
• Pinsker, J. E. (2012). Clinical review: Turner syndrome: updating the paradigm of clinical care. The J Clin Endocrinol Metab, 97(6), E994-1003.
• Radtke, A. C., Sauder, C., Rehm, J. L., & McKenna, P. H. (2014). Complexity in the Diagnosis and Management of 45,X Turner Syndrome Mosaicism. Urology, 84 (4), 919-921.
• Reindollar, R. H. (2011). Turner syndrome: contemporary thoughts and reproductive issues. Semin Reprod Med, 29 (4), 342-352.
• Reynaud, K., Cortvrindt, R., Verlinde, F., De Schepper, J., Bourgain, C., & Smitz, J. (2004). Number of ovarian follicles in human fetuses with the 45,X karyotype. Fertil Steril, 81 (4), 1112-1119.
• Ros, C., Alobid, I., Balasch, J., Mullol, J., & Castelo-Branco, C. (2013). Turner's syndrome and other forms of congenital hypogonadism impair quality of life and sexual function. Am J Obstet Gynecol, 208 (6), 484.e1-6.
• Rosenstein, T. (2017). An Analysis of the Mental Health, Coping Ability, and Related Nursing Interventions of Women Undergoing Infertility Treatment. Grace Peterson Nursing Research Colloquium; DePaul University; 1-2. Available from Erişim tarihi: 25.03.2020, https://via.library.depaul.edu/cgi/viewcontent.cgi?article=1144&context=nursing-colloquium
• Sadler, T. W. (2012). Gametogenesis: Conversion of Germ Celss into Male and Female Gametes. Langman's Medical Embryology. 12th ed. Lippincott Williams & Wilkins.
• Saenger, P. (2008). Turner Syndrome. In M. Sperling (Ed). 3rd ed. Philadelphia: Saunders; p. 610-661.
• Sandberg, D. E., Singer, D., Bugajski, B., Gebremariam, A., Scerbak, T., Dooley Maley, K. L., et al. (2019). Research priorities of people living with Turner syndrome. Am J Med Genet C Semin Med Genet, 181 (1), 43-51.
• Schlessinger, D., Herrera, L., Crisponi, L., Mumm, S., Percesepe, A., Pellegrini, M., et al. (2002). Genes and translocations involved in POF. Am J Med Genet, 111 (3), 328-333.
• Shankar, R. K., & Backeljauw, P. F. (2018). Current best practice in the management of Turner syndrome. Ther Adv Endocrinol Metab, 9 (1), 33-40.
• Sheaffer, A. T., Lange, E., & Bondy, C. A. (2008). Sexual function in women with Turner syndrome. J Womens Health, 17 (1), 27-33.
• Sodre, C. P., Guilherme, R. S., Meloni, V. F., Brunoni, D., Juliano, Y., Andrade, J. A., et al. (2010). Ring chromosome instability evaluation in six patients with autosomal rings. Genet Mol Res, 9 (1), 134-143.
• Stevenson, E. L., Hershberger, P. E., & Bergh, P. A. (2016). Evidence-Based Care for Couples With Infertility. J Obstet, Gynecol Neonatal Nurs, 45 (1), 100-10.
• Stochholm, K., Juul, S., Juel, K., Naeraa, R. W., & Gravholt, C. H. (2006). Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome. J Clin Endocrinol Metab, 91 (10), 3897-3902.
• Sutton, E. J., McInerney-Leo, A., Bondy, C. A., Gollust, S. E., King, D., & Biesecker, B. (2005). Turner syndrome: Four challenges across the lifespan. Am J Med Genet A, 139A (2), 57-66.
• Sybert, V. P. (2002). Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome. J Med Genet, 39 (3), 217-20.
• Sybert, V. P., & McCauley, E. (2004). Turner's syndrome. N Engl J Med, 351 (12), 1227-1238.
• Turan, Ş., & Aksoy-Poyarz, C. (2015). Günlük yaşam stresiyle baş etmek için kullanılan psikoterapi yöntemleri. Bilişsel Davranışçı Psikoterapi ve Araştırmalar Dergisi, 3, 133-40.
• Turner, H. H. (1938). A syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology, 23, 566-574.
• Ullrich, O. (1930). Über typische Kombinationsbilder multipler Abartungen. Zeitschrift für Kinderheilkunde, 49 (3), 271-276.
• Urbach, A., & Benvenisty, N. (2009). Studying early lethality of 45,XO (Turner's syndrome) embryos using human embryonic stem cells. PloS One, 4 (1), e4175.
• Visser, J.A., Hokken-Koelega, A.C., Zandwijken, G.R., Limacher, A., Ranke, M.B., & Fluck, C.E. (2013). Anti-Mullerian hormone levels in girls and adolescents with Turner syndrome are related to karyotype, pubertal development and growth hormone treatment. Hum Reprod, 28 (7), 1899-1907.
• Williams, M., Green, L., & Roberts, K. (2010). Exploring the needs and expectations of women presenting for hysterosalpingogram examination following a period of subfertility: A qualitative study. Int J Clin Pract, 64 (12), 1653-60.
• Zinn, A. R., Tonk, V. S., Chen, Z., Flejter, W. L., Gardner, H. A., Guerra, R., et al. (1998). Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1. Am J Hum Genet, 63 (6), 1757-1766.
• Zollino, M., Seminara, L., Orteschi, D., Gobbi, G., Giovannini, S., Della Giustina, E., et al. (2009). The ring 14 syndrome: clinical and molecular definition. Am J Med Genet A, 149a (6), 1116-1124.