Hipergonadotropik Hipogonadizm ve İnfertilite Yönetimi (Turner Sendromu vs.)
Özet
Hipergonadotropik hipogonadizm, hipotalamus-hipofiz aksı normal çalışmasına rağmen gonadların primer yetmezliği sonucu ortaya çıkan bir tablodur. Kadınlarda görülen primer gonadal yetmezlik, normal menopoz süreci başlamadan çok daha önce over fonksiyonlarının yetersiz kalmasıyla kendini gösterir. Bu durum literatürde prematüre over yetmezliği (POY) olarak da bilinmektedir. POY etiyolojisinde genetik defektler, overlere zarar veren toksik ajanlar veya cerrahi işlemler, otoimmün mekanizmalar, enfeksiyonlar ve çeşitli kalıtsal problemler yer alabilir. Bazı hastalarda ise neden tam olarak belirlenemez. Erken tanı konulup uygun tedaviye yönlendirilmeleri hem fertiliteyi koruyabilmek hem genetik nedenli durumlarda uygun vücut ve cinsiyet gelişimini sağlayabilmek, hem de uzun vadede yaşam kalitelerini artırabilmek açısından son derece önemlidir.
Hypergonadotropic hypogonadism in women is characterized by primary gonadal failure despite an intact hypothalamic-pituitary axis. It manifests as loss of ovarian function or follicular reserve well before the normal age of menopause, a condition also known as premature ovarian failure or primary ovarian insufficiency. The etiology of this condition includes genetic defects, toxic agents or surgical procedures affecting the ovaries, autoimmune mechanisms, infections, and various hereditary problems. In some cases, the exact cause cannot be determined. Early identification of women with premature ovarian failure and prompt initiation of appropriate therapy are crucial for preserving fertility, ensuring proper physical and sexual development in genetic cases, and improving quality of life in the long term.
Referanslar
Coulam, C.B. (1986). Evidence for a genetic factor in the etiology of premature ovarian failure. Fertility and Sterility, 46(3): 324-326.
Düzküloğlu, E., et al. (2004). Türk kadınlarında menopoz yaşı ve etkileyen faktörler. Türk Jinekoloji ve Obstetrik Derneği Dergisi, 2(1): 30-34.
Menkes, M., and Wershaw, T.S. (1985). The Menopause: endocrinologic aspects. International Journal of Fertility, 30(1): 41-55.
Goswami, D., and Conway, G.S. (2005). Premature ovarian failure. Human Reproduction Update, 11(4): 391-410.
Baker, T.G. (1963). A quantitative and cytological study of germ cells in human ovaries. Proceedings of the Royal Society of London. Series B, Biological Sciences, 158(972): 417-433.
Shelling, A.N. (2010). Premature ovarian failure. Reproduction, 140(5): 633-641.
Nelson, L.M. (2009). Primary ovarian insufficiency. New England Journal of Medicine, 360(6): 606-614.
Vujovic, S. (2009). Aetiology of premature ovarian failure. Menopause International, 15(2): 72-75.
Kalantaridou, S.N., and Nelson, L.M. (2000). Premature ovarian failure is not premature menopause. Annals of the New York Academy of Sciences, 900: 393-402.
De Vos, M., Devroey, P., and Fauser, B.C. (2010). Primary ovarian insufficiency. The Lancet, 376(9744): 911-921.
Lawson, C., and Dasgupta, R. (2018). Ovarian tissue cryopreservation in young girls: a review of the literature. Journal of Assisted Reproduction and Genetics, 35(2): 265-277.
Gougeon, A. (1996). Regulation of ovarian follicular development in primates: facts and hypotheses. Endocrine Reviews, 17(2): 121-155.
Rebar, R.W. (2009). Premature ovarian failure. Obstetrics and Gynecology, 113(6): 1355-1363.
Webb, J., and Theodoros, T. (2019). Premature ovarian insufficiency: clinical characterization and long-term management. Clinical Endocrinology, 90(6): 853-858.
Hidalgo, B.A., and Nelson, L.M. (2014). Primary Ovarian Insufficiency. Journal of the American Medical Association, 313(22): 2221-2222.
van Noord, P.A., Dubas, J.S., Donders, A.R., and Groenenboom, D.C. (1997). Early menopausal transition and premature ovarian failure in the general population: frequency and risk factors. Maturitas, 25(2): 113-119.
Bernard, V., Donadio-Andreis, J., and Chabbert-Buffet, N. (2009). Genetics of premature ovarian failure. Journal de Gynécologie Obstétrique et Biologie de la Reproduction, 38(1): 78-87.
Bouilly, J., Kadri, S., Vierheller, P., et al. (2016). X chromosome and premature ovarian failure: a mutational analysis. Human Reproduction, 31(1): 224-232.
Sala, C., Migliavacca, E., Pagani, F., et al. (2005). Xq and premature ovarian failure: mapping of 25 new cases and review of the literature. Human Reproduction, 21(6): 1477–1483.
Powell, S., Garcia, R.L., Tilly, J.L., and Scott, R.T. (1999). Xq28 (POF2): a second major genetic locus for premature ovarian failure. American Journal of Human Genetics, 64(2): 482-488.
Sherman, S.L. (2000). Premature ovarian failure in the fragile X syndrome. American Journal of Medical Genetics, 97(3): 189-194.
Welt, C.K. (2008). Primary ovarian insufficiency: a more accurate term for premature ovarian failure. Clinical Endocrinology (Oxford), 68(4): 499–509.
Galloway, S.M., McNatty, K.P., Cambridge, L.M., et al. (2000). Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and infertility in a dosage-sensitive manner. Nature Genetics, 25(3): 279–283.
Ellis, N.A., and German, J. (1996). Molecular genetics of Bloom syndrome. Human Molecular Genetics, 5(SPEC NO): 1457-1463.
Jaubert, F., Galmiche, L., Lortat-Jacob, S., Fournet, J.C., and Fellous, M. (2011). FOXL2 in gonad development and pathology. Arkhiv Patologii, 73(4): 10-13.
Bakalov, V.K., Anasti, J.N., Calis, K.A., et al. (2005). Autoimmune oophoritis as a mechanism of follicular dysfunction in women with 46,XX spontaneous premature ovarian failure. Fertility and Sterility, 84(4): 958-965.
Saif, A., and Assem, M. (2017). Premature ovarian failure could be an alarming sign of polyglandular autoimmune dysfunction. Endocrine Regulations, 51(2): 114-116.
Conway, G.S., Kaltsas, G., Paterson, S., Davies, M.C., and Clayton, R.N. (1996). High dose corticosteroid treatment for premature ovarian failure. Clinical Endocrinology, 44(6): 687-694.
Bhangoo, A., Buyuk, E., Oktay, K., and Ten, S. (2007). Phenotypic features of 46,XX females with StAR protein mutations. Pediatric Endocrinology Reviews, 5(2): 633-641.
Mantovani, G., Maghnie, M., Brugni, M., et al. (2003). Endocrine phenotype and genotype of a woman with pseudohypoparathyroidism type 1a and early onset of osteopenia. Journal of Clinical Endocrinology & Metabolism, 88(9): 4127-4131.
Knauff, E.A., Frank de Vries, B., Wurm, P., et al. (2009). Serum AMH levels preferentially reflect the primordial follicle number in healthy young women: potential new marker for ovarian aging. Human Reproduction, 24(4): 861-866.
Zhao, X., Zhang, X., Chen, S., et al. (2014). Induction of ovulation and pregnancy in a woman with premature ovarian failure by immunosuppressive therapy. Journal of Reproductive Immunology, 101-102: 84-90.
ACOG Committee on Gynecologic Practice. (2014). Committee Opinion No. 618: Primary ovarian insufficiency in the adolescent. Obstetrics & Gynecology, 124(1): 193-197.
Referanslar
Coulam, C.B. (1986). Evidence for a genetic factor in the etiology of premature ovarian failure. Fertility and Sterility, 46(3): 324-326.
Düzküloğlu, E., et al. (2004). Türk kadınlarında menopoz yaşı ve etkileyen faktörler. Türk Jinekoloji ve Obstetrik Derneği Dergisi, 2(1): 30-34.
Menkes, M., and Wershaw, T.S. (1985). The Menopause: endocrinologic aspects. International Journal of Fertility, 30(1): 41-55.
Goswami, D., and Conway, G.S. (2005). Premature ovarian failure. Human Reproduction Update, 11(4): 391-410.
Baker, T.G. (1963). A quantitative and cytological study of germ cells in human ovaries. Proceedings of the Royal Society of London. Series B, Biological Sciences, 158(972): 417-433.
Shelling, A.N. (2010). Premature ovarian failure. Reproduction, 140(5): 633-641.
Nelson, L.M. (2009). Primary ovarian insufficiency. New England Journal of Medicine, 360(6): 606-614.
Vujovic, S. (2009). Aetiology of premature ovarian failure. Menopause International, 15(2): 72-75.
Kalantaridou, S.N., and Nelson, L.M. (2000). Premature ovarian failure is not premature menopause. Annals of the New York Academy of Sciences, 900: 393-402.
De Vos, M., Devroey, P., and Fauser, B.C. (2010). Primary ovarian insufficiency. The Lancet, 376(9744): 911-921.
Lawson, C., and Dasgupta, R. (2018). Ovarian tissue cryopreservation in young girls: a review of the literature. Journal of Assisted Reproduction and Genetics, 35(2): 265-277.
Gougeon, A. (1996). Regulation of ovarian follicular development in primates: facts and hypotheses. Endocrine Reviews, 17(2): 121-155.
Rebar, R.W. (2009). Premature ovarian failure. Obstetrics and Gynecology, 113(6): 1355-1363.
Webb, J., and Theodoros, T. (2019). Premature ovarian insufficiency: clinical characterization and long-term management. Clinical Endocrinology, 90(6): 853-858.
Hidalgo, B.A., and Nelson, L.M. (2014). Primary Ovarian Insufficiency. Journal of the American Medical Association, 313(22): 2221-2222.
van Noord, P.A., Dubas, J.S., Donders, A.R., and Groenenboom, D.C. (1997). Early menopausal transition and premature ovarian failure in the general population: frequency and risk factors. Maturitas, 25(2): 113-119.
Bernard, V., Donadio-Andreis, J., and Chabbert-Buffet, N. (2009). Genetics of premature ovarian failure. Journal de Gynécologie Obstétrique et Biologie de la Reproduction, 38(1): 78-87.
Bouilly, J., Kadri, S., Vierheller, P., et al. (2016). X chromosome and premature ovarian failure: a mutational analysis. Human Reproduction, 31(1): 224-232.
Sala, C., Migliavacca, E., Pagani, F., et al. (2005). Xq and premature ovarian failure: mapping of 25 new cases and review of the literature. Human Reproduction, 21(6): 1477–1483.
Powell, S., Garcia, R.L., Tilly, J.L., and Scott, R.T. (1999). Xq28 (POF2): a second major genetic locus for premature ovarian failure. American Journal of Human Genetics, 64(2): 482-488.
Sherman, S.L. (2000). Premature ovarian failure in the fragile X syndrome. American Journal of Medical Genetics, 97(3): 189-194.
Welt, C.K. (2008). Primary ovarian insufficiency: a more accurate term for premature ovarian failure. Clinical Endocrinology (Oxford), 68(4): 499–509.
Galloway, S.M., McNatty, K.P., Cambridge, L.M., et al. (2000). Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and infertility in a dosage-sensitive manner. Nature Genetics, 25(3): 279–283.
Ellis, N.A., and German, J. (1996). Molecular genetics of Bloom syndrome. Human Molecular Genetics, 5(SPEC NO): 1457-1463.
Jaubert, F., Galmiche, L., Lortat-Jacob, S., Fournet, J.C., and Fellous, M. (2011). FOXL2 in gonad development and pathology. Arkhiv Patologii, 73(4): 10-13.
Bakalov, V.K., Anasti, J.N., Calis, K.A., et al. (2005). Autoimmune oophoritis as a mechanism of follicular dysfunction in women with 46,XX spontaneous premature ovarian failure. Fertility and Sterility, 84(4): 958-965.
Saif, A., and Assem, M. (2017). Premature ovarian failure could be an alarming sign of polyglandular autoimmune dysfunction. Endocrine Regulations, 51(2): 114-116.
Conway, G.S., Kaltsas, G., Paterson, S., Davies, M.C., and Clayton, R.N. (1996). High dose corticosteroid treatment for premature ovarian failure. Clinical Endocrinology, 44(6): 687-694.
Bhangoo, A., Buyuk, E., Oktay, K., and Ten, S. (2007). Phenotypic features of 46,XX females with StAR protein mutations. Pediatric Endocrinology Reviews, 5(2): 633-641.
Mantovani, G., Maghnie, M., Brugni, M., et al. (2003). Endocrine phenotype and genotype of a woman with pseudohypoparathyroidism type 1a and early onset of osteopenia. Journal of Clinical Endocrinology & Metabolism, 88(9): 4127-4131.
Knauff, E.A., Frank de Vries, B., Wurm, P., et al. (2009). Serum AMH levels preferentially reflect the primordial follicle number in healthy young women: potential new marker for ovarian aging. Human Reproduction, 24(4): 861-866.
Zhao, X., Zhang, X., Chen, S., et al. (2014). Induction of ovulation and pregnancy in a woman with premature ovarian failure by immunosuppressive therapy. Journal of Reproductive Immunology, 101-102: 84-90.
ACOG Committee on Gynecologic Practice. (2014). Committee Opinion No. 618: Primary ovarian insufficiency in the adolescent. Obstetrics & Gynecology, 124(1): 193-197.
