Pierwotna niewydolność jajników — patogeneza, diagnostyka i leczenie
Streszczenie
Pierwotna niewydolność jajników dotyka aż 1% kobiet w wieku rozrodczym i jest przyczyną wielu problemów natury zarówno zdrowotnej, jak i psychicznej pacjentek. Na rozwój tego schorzenia mają wpływ zaburzenia genetyczne, autoimmunologiczne, metaboliczne oraz narażenie na substancje toksyczne, szczególnie u pacjentek onkologicznych. Istotna jest wczesna diagnostyka oraz identyfikacja podłoża problemu, co pozwala szybko i skutecznie wdrożyć hormonalną terapię zastępczą, opracować plan rozrodu oraz otoczyć pacjentkę kompleksową opieką. Konsekwencjami nieleczonej niewydolności jajników mogą być: niepłodność, osteoporoza, choroby serca, depresja oraz objawy hipoestrogenizmu obniżające jakość życia. W poniższej pracy zwrócono uwagę na aspekty pierwotnej niewydolności jajników z zakresu nauk podstawowych i klinicznych opierając się o aktualną wiedzę i rekomendacje ekspertów.
Słowa kluczowe: pierwotna niewydolność jajnikówosteoporozaniepłodność żeńskagalaktozemia
Referencje
- Coulam CB, Adamson SC, Annegers JF. Incidence of premature ovarian failure. Obstet Gynecol. 1986; 67(4): 604–606.
- Nelson LM. Clinical practice. Primary ovarian insufficiency. N Engl J Med. 2009; 360(6): 606–614.
- Singh RP, Carr DH. The anatomy and histology of XO human embryos and fetuses. Anat Rec. 1966; 155(3): 369–383.
- Allingham-Hawkins DJ, Babul-Hirji R, Chitayat D, et al. Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data. Am J Med Genet. 1999; 83(4): 322–325.
- Vries BBde, Halley DJ, Oostra BA, et al. The fragile X syndrome. Journal of Medical Genetics. 1998; 35(7): 579–589.
- Seltzer MM, Baker MW, Hong J, et al. Prevalence of CGG expansions of the FMR1 gene in a US population-based sample. Am J Med Genet B Neuropsychiatr Genet. 2012; 159B(5): 589–597.
- Jacquemont S, Hagerman RJ, Leehey M, et al. Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet. 2003; 72(4): 869–878.
- Welt CK, Smith PC, Taylor AE. Evidence of early ovarian aging in fragile X premutation carriers. J Clin Endocrinol Metab. 2004; 89(9): 4569–4574.
- Tassone F, Hagerman RJ, Taylor AK, et al. Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. Am J Hum Genet. 2000; 66(1): 6–15.
- Kaufman FR, Kogut MD, Donnell GN, et al. Hypergonadotropic hypogonadism in female patients with galactosemia. N Engl J Med. 1981; 304(17): 994–998.
- Waisbren SE, Potter NL, Gordon CM, et al. The adult galactosemic phenotype. J Inherit Metab Dis. 2012; 35(2): 279–286.
- Chen YT, Mattison DR, Feigenbaum L, et al. Reduction in oocyte number following prenatal exposure to a diet high in galactose. Science. 1981; 214(4525): 1145–1147.
- UpToDate®. Emergency Medicine News. 2017; 39(10): 34.
- Bakalov VK, Vanderhoof VH, Bondy CA, et al. Adrenal antibodies detect asymptomatic auto-immune adrenal insufficiency in young women with spontaneous premature ovarian failure. Hum Reprod. 2002; 17(8): 2096–2100.
- Betterle C, Volpato M, Rees Smith B, et al. I. Adrenal cortex and steroid 21-hydroxylase autoantibodies in adult patients with organ-specific autoimmune diseases: markers of low progression to clinical Addison's disease. J Clin Endocrinol Metab. 1997; 82(3): 932–938.
- Webber L, Davies M, Anderson R, et al. European Society for Human Reproduction and Embryology (ESHRE) Guideline Group on POI. ESHRE Guideline: management of women with premature ovarian insufficiency. Hum Reprod. 2016; 31(5): 926–937.
- Li Yi, Xiao Bo, Xiao L, et al. Myasthenia gravis accompanied by premature ovarian failure and aggravation by estrogen. Intern Med. 2010; 49(6): 611–613.
- Nelson LM, Anasti JN, Kimzey LM, et al. Development of luteinized graafian follicles in patients with karyotypically normal spontaneous premature ovarian failure. J Clin Endocrinol Metab. 1994; 79(5): 1470–1475.
- Taylor AE, Adams JM, Mulder JE, et al. A randomized, controlled trial of estradiol replacement therapy in women with hypergonadotropic amenorrhea. J Clin Endocrinol Metab. 1996; 81(10): 3615–3621.
- Hubayter ZR, Popat V, Vanderhoof VH, et al. A prospective evaluation of antral follicle function in women with 46,XX spontaneous primary ovarian insufficiency. Fertil Steril. 2010; 94(5): 1769–1774.
- Rebar RW, Connolly HV. Clinical features of young women with hypergonadotropic amenorrhea. Fertil Steril. 1990; 53(5): 804–810.
- Alzubaidi NH, Chapin HL, Vanderhoof VH, et al. Meeting the needs of young women with secondary amenorrhea and spontaneous premature ovarian failure. Obstet Gynecol. 2002; 99(5 Pt 1): 720–725.
- Mondul AM, Rodriguez C, Jacobs EJ, et al. Age at natural menopause and cause-specific mortality. Am J Epidemiol. 2005; 162(11): 1089–1097.
- Jacobsen BK, Knutsen SF, Fraser GE. Age at natural menopause and total mortality and mortality from ischemic heart disease: the Adventist Health Study. J Clin Epidemiol. 1999; 52(4): 303–307.
- de Kleijn MJJ, van der Schouw YT, Verbeek ALM, et al. Endogenous estrogen exposure and cardiovascular mortality risk in postmenopausal women. Am J Epidemiol. 2002; 155(4): 339–345.
- Rocca WA, Bower JH, Ahlskog JE, et al. Increased risk of cognitive impairment or dementia in women who underwent oophorectomy before menopause. Neurology. 2007; 69(11): 1074–1083.
- Groff AA, Covington SN, Halverson LR, et al. Assessing the emotional needs of women with spontaneous premature ovarian failure. Fertil Steril. 2005; 83(6): 1734–1741.
- Orshan SA, Furniss KK, Forst C, et al. The lived experience of premature ovarian failure. J Obstet Gynecol Neonatal Nurs. 2001; 30(2): 202–208.
- Alzubaidi N, Chapin H, Vanderhoof V, et al. Meeting the Needs of Young Women With Secondary Amenorrhea and Spontaneous Premature Ovarian Failure. Obstetrics & Gynecology. 2002; 99(5, Part 1): 720–725.
- Krauss CM, Turksoy RN, Atkins L, et al. Familial premature ovarian failure due to an interstitial deletion of the long arm of the X chromosome. N Engl J Med. 1987; 317(3): 125–131.
- Hubayter ZR, Popat V, Vanderhoof VH, et al. A prospective evaluation of antral follicle function in women with 46,XX spontaneous primary ovarian insufficiency. Fertil Steril. 2010; 94(5): 1769–1774.
- Pouillès JM, Trémollières F, Bonneu M, et al. Influence of early age at menopause on vertebral bone mass. J Bone Miner Res. 1994; 9(3): 311–315.
- Leite-Silva P, Bedone A, Pinto-Neto AM, et al. Factors associated with bone density in young women with karyotypically normal spontaneous premature ovarian failure. Arch Gynecol Obstet. 2009; 280(2): 177–181.
- De Vos M, Devroey P, Fauser BC. Primary ovarian insufficiency. Lancet. 2010; 376(9744): 911–921.
- Crofton PM, Evans N, Bath LE, et al. Physiological versus standard sex steroid replacement in young women with premature ovarian failure: effects on bone mass acquisition and turnover. Clin Endocrinol (Oxf). 2010; 73(6): 707–714.
- van Kasteren YM, Schoemaker J. Premature ovarian failure: a systematic review on therapeutic interventions to restore ovarian function and achieve pregnancy. Hum Reprod Update. 1999; 5(5): 483–492.
- Committee on Gynecologic Practice. Committee Opinion No. 698: Hormone Therapy in Primary Ovarian Insufficiency. Obstet Gynecol. 2017; 129(5): e134–e141.
- Canonico M, Oger E, Plu-Bureau G, et al. Estrogen and Thromboembolism Risk (ESTHER) Study Group, EStrogen and THromboEmbolism Risk (ESTHER) Study Group. Obesity and risk of venous thromboembolism among postmenopausal women: differential impact of hormone therapy by route of estrogen administration. The ESTHER Study. J Thromb Haemost. 2006; 4(6): 1259–1265.
- Kaunitz AM. Clinical practice. Hormonal contraception in women of older reproductive age. N Engl J Med. 2008; 358(12): 1262–1270.
- Paulson RJ, Hatch IE, Lobo RA, et al. Cumulative conception and live birth rates after oocyte donation: implications regarding endometrial receptivity. Hum Reprod. 1997; 12(4): 835–839.