Un conseil génétique doit être prodigué aux patientes et à leur famille lorsqu'une anomalie chromosomique ou génique est retrouvée. Ce conseil génétique doit tenir compte du risque de récurrence de l'IOP dans la famille et surtout du risque d'un déséquilibre chromosomique plus grave, pouvant entraîner l'apparition de patholo-gies polymalformatives et/ou de retard mental dans la famille. La détection de la prémutation du gène FMR1 doit conduire à une enquête familiale pour rechercher d'autres sujets porteurs de cette prémutation qui risquent de transmettre la muta-tion complète à leur descendance.
Suivi
Un suivi annuel est nécessaire sur le plan endocrino-logique et gynécoendocrino-logique pour apprécier la tolérance et le retentissement des traitements, notamment sur le plan mammaire et osseux.
Il est conseillé de poursuivre le traitement jusqu'à l'âge physiologique de la ménopause.
C onclusion
L'insuffisance ovarienne prématurée touche entre 1 et 2 % des femmes. Une étiologie n'est retrouvée que dans 10 % des cas. Il existe des causes iatro-gènes, auto-immunes et génétiques. La génétique est au centre de cette enquête étiologique, avec la réalisation d'un caryotype et la recherche de la prémutation de FMR1, de manière systématique.
Ce bilan initial pour affirmer le diagnostic et éva-luer le retentissement est indispensable. La prise en charge thérapeutique est essentielle pour limi-ter les effets néfastes de la carence estrogénique. Il est important d'insister sur la prise régulière du traitement hormonal substitutif afin d'éviter les complications cardiovasculaires et osseuses.
Références
[1] Conway GS. Premature ovarian failure. Br Med Bull 2000 ; 56 (3) : 643–9.
[2] Christin-Maitre S, Tachdjian G. Genome-wide association study and premature ovarian failure.
Ann Endocrinol (Paris) 2010 ; 71 (3) : 218–21.
[3] Luborsky JL, Meyer P, Sowers MF, Gold EB, Santoro N. Premature menopause in a multi-ethnic population study of the menopause transition. Hum Reprod 2003 ; 18 (1) : 199–206.
[4] Progretto Menopausal Italia Study Group. Premature ovarian failure : frequency and risk factors among women attending a network of menopause clinics in Italy. BJOG 2003 ; 110 (1) : 59–63.
[5] Nelson LM. Clinical practice. Primary ovarian insufficiency. N Engl J Med 2009 ; 360 (6) : 606–14.
[6] Bachelot A, Rouxel A, Massin N, Dulon J, Courtillot C, Matuchansky C, et al. Phenotyping and genetic studies of 357 consecutive patients presen-ting with premature ovarian failure. Eur J Endocrinol 2009 ; 161 (1) : 179–87.
[7] De Vos M, Devroey P, Fauser BC. Primary ovarian insufficiency. Lancet 2010 ; 376 (9744) : 911–21.
[8] Levine J, Canada A, Stern CJ. Fertility preservation in adolescents and young adults with cancer. J Clin Oncol 2010 ; 28 (32) : 4831–41.
[9] Wallace WH, Anderson RA, Irvine DS. Fertility pre-servation for young patients with cancer : who is at risk and what can be offered ? Lancet Oncol 2005 ; 6 (4) : 209–18.
[10] Blumenfeld Z, Avivi I, Ritter M, Rowe JM.
Preservation of fertility and ovarian function and minimizing chemotherapy-induced gonadotoxicity in young women. J Soc Gynecol Investig 1999 ; 6 (5) : 229–39.
[11] Schmidt KT, Larsen EC, Andersen CY, Andersen AN.
Risk of ovarian failure and fertility preserving methods in girls and adolescents with a malignant disease. BJOG 2009 ; 117 (2) : 163–74.
[12] Goswami D, Conway GS. Premature ovarian failure.
Hum Reprod Update 2005 ; 11 (4) : 391–410.
[13] Busacca M, Riparini J, Somigliana E, Oggioni G, Izzo S, Vignali M, et al. Postsurgical ovarian failure after laparoscopic excision of bilateral endometrio-mas. Am J Obstet Gynecol 2006 ; 195 (2) : 421–5.
[14] Cervera R, Balasch J. Bidirectional effects on autoim-munity and reproduction. Hum Reprod Update 2008 ; 14 (4) : 359–66.
[15] Bakalov VK, Vanderhoof VH, Bondy CA, Nelson LM. Adrenal antibodies detect asymptomatic auto-immune adrenal insufficiency in young women with spontaneous premature ovarian failure. Hum Reprod 2002 ; 17 (8) : 2096–100.
[16] Morrison JC, Givens JR, Wiser WL, Fish SA. Mumps oophoritis : a cause of premature menopause. Fertil Steril 1975 ; 26 (7) : 655–9.
[17] De Baere E. Blepharophimosis, ptosis, and epican-thus inversus. In : Pagon RA, Bird TD, Dolan CR, Stephens K, editors. Gene Reviews. [Internet].
Seattle : University of Washington ; 2009.
[18] Ahonen P, Myllarniemi S, Sipila I, Perheentupa J.
Clinical variation of autoimmune polyendocrinopa-thy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. N Engl J Med 1990 ; 322 (26) : Nagashima K, Brown K, et al. ATM deficiency results in severe meiotic disruption as early as leptonema of prophase I. Development 1998 ; 125 (20) : 4007–17.
[21] Rubio-Gozalbo ME, Gubbels CS, Bakker JA, Menheere PP, Wodzig WK, Land JA. Gonadal func-tion in male and female patients with classic galacto-semia. Hum Reprod Update 2010 ; 16 (2) : 177–88.
[22] Kosaki K, Sato S, Hasegawa T, Matsuo N, Suzuki T, Ogata T. Premature ovarian failure in a female with proximal symphalangism and Noggin mutation.
Fertil Steril 2004 ; 81 (4) : 1137–9.
[23] Chrzanowska KH, Szarras-Czapnik M, Gajdulewicz M, Kalina MA, Gajtko-Metera M, Walewska-Wolf M, et al. High prevalence of primary ovarian insufficiency in girls and young women with Nijmegen breakage
syndrome : evidence from a longitudinal study. J Clin Endocrinol Metab 2010 ; 95 (7) : 3133–40.
[24] Christin-Maitre S, Pasquier M, Donadille B, Bouchard P.
Premature ovarian failure. Ann Endocrinol (Paris) 2006 ; 67 (6) : 557–66.
[25] Huhtaniemi I, Alevizaki M. Gonadotropin resis-tance. Best Pract Res Clin Endocrinol Metab 2006 ; 20 (4) : 561–76.
[26] Themmen APN, Huhtaniemi IT. Mutations of gonadotropins and gonadotropin receptors : eluci-dating the physiology and pathophysiology of pitui-tary-gonadal function. Endocr Rev 2000 ; 21 (5) : 551–83.
[27] Chand AL, Harrison CA, Shelling AN. Inhibin and premature ovarian failure. Hum Reprod Update 2010 ; 16 (1) : 39–50.
[28] Dixit H, Rao LK, Padmalatha V, Kanakavalli M, Deenadayal M, Gupta N, et al. Mutational screening of the coding region of growth differentiation factor 9 gene in Indian women with ovarian failure.
Menopause 2005 ; 12 (6) : 749–54.
[29] Qin Y, Shi Y, Zhao Y, Carson SA, Simpson JL, Chen ZJ. Mutation analysis of NOBOX homeodo-main in Chinese women with premature ovarian fai-lure. Fertil Steril 2009 ; 91 (Suppl. 4) : 1507–9.
[30] Qin Y, Choi Y, Zhao H, Simpson JL, Chen ZJ, Rajkovic A. NOBOX homeobox mutation causes pre-mature ovarian failure. Am J Hum Genet 2007 ; 81 (3) : 576–81.
[31] Vinci G, Christin-Maitre S, Pasquier M, Bouchard P, Fellous M, Veitia RA. FOXO3a variants in patients with premature ovarian failure. Clin Endocrinol (Oxf) 2008 ; 68 (3) : 495–7.
[32] Sybert VP, McCauley E. Turner's syndrome. N Engl J Med 2004 ; 351 (12) : 1227–38.
[33] Wittenberger MD, Hagerman RJ, Sherman SL, McConkie-Rosell A, Welt CK, Rebar RW, et al. The FMR1 premutation and reproduction. Fertil Steril 2007 ; 87 (3) : 456–65.
[34] Rousseau F, Rouillard P, Morel ML, Khandjian EW, Morgan K. Prevalence of carriers of premutation-size alleles of the FMRI gene and implications for the population genetics of the fragile X syndrome. Am J Hum Genet 1995 ; 57 (5) : 1006–18.
[35] Conway GS, Payne NN, Webb J, Murray A, Jacobs PA. Fragile X premutation screening in women with premature ovarian failure. Hum Reprod 1998 ; 13 (5) : 1184–2127.
[36] Gleicher N, Weghofer A, Barad DH. A pilot study of premature ovarian senescence. I. Correlation of triple CGG repeats on the FMR1 gene to ovarian reserve parameters FSH and anti-müllerian hor-mone. Fertil Steril 2009 ; 91 (5) : 1700–6.
[37] Murray A, Webb J, Dennis N, Conway G, Morton N.
Microdeletions in FMR2 may be a significant cause
of premature ovarian failure. J Med Genet 1999 ; 36 (10) : 767–70.
[38] Therman E, Susman B. The similarity of phenotypic effects caused by Xp and Xq deletions in the human female : a hypothesis. Hum Genet 1990 ; 85 (2) : 175–83.
[39] Rizzolio F, Bione S, Sala C, Goegan M, Gentile M, Gregato G, et al. Chromosomal rearrangements in Xq and premature ovarian failure : mapping of 25 new cases and review of the literature. Hum Reprod 2006 ; 21 (6) : 1477–83.
[40] Rizzolio F, Pramparo T, Sala C, Zuffardi O, De Santis L, Rabellotti E, et al. Epigenetic analysis of the critical region I for premature ovarian failure : demonstration of a highly heterochromatic domain on the long arm of the mammalian X chromosome.
J Med Genet 2009 ; 46 (9) : 585–92.
[41] Aboura A, Dupas C, Tachdjian G, Portnoi MF, Bourcigaux N, Dewailly D, et al. Array comparative genomic hybridization profiling analysis reveals deoxyribonucleic acid copy number variations asso-ciated with premature ovarian failure. J Clin Endocrinol Metab 2009 ; 94 (11) : 4540–6.
[42] Quilter CR, Karcanias AC, Bagga MR, Duncan S, Murray A, Conway GS, et al. Analysis of X chromo-some genomic DNA sequence copy number varia-tion associated with premature ovarian failure (POF). Hum Reprod 2010 ; 25 (8) : 2139–50.
[43] Ledig S, Ropke A, Wieacker P. Copy number variants in premature ovarian failure and ovarian dysgenesis.
Sex Dev 2010 ; 4 (4–5) : 225–32.
[44] Kang H, Lee SK, Kim MH, Song J, Bae SJ, Kim NK, et al. Parathyroid hormone-responsive B1 gene is associated with premature ovarian failure. Hum Reprod 2008 ; 23 (6) : 1457–65.
[45] Knauff EA, Franke L, van Es MA, van den Berg LH, van der Schouw YT, Laven JS, et al. Genome-wide association study in premature ovarian failure patients suggests ADAMTS19 as a possible candidate gene. Hum Reprod 2009 ; 24 (9) : 2372–8.
[46] Shuster LT, Rhodes DJ, Gostout BS, Grossardt BR, Rocca WA. Premature menopause or early meno-pause : long-term health consequences. Maturitas 2010 ; 65 (2) : 161–6.
[47] Conway GS, Kaltsas G, Patel A, Davies MC, Jacobs HS. Characterization of idiopathic premature ovarian failure. Fertil Steril 1996 ; 65 (2) : 337–41.
[48] Meczekalski B, Podfigurna-Stopa A, Genazzani AR.
Hypoestrogenism in young women and its influence on bone mass density. Gynecol Endocrinol 2010 ; 26 (9) : 652–7.
[49] Schmidt PJ, Luff JA, Haq NA, Vanderhoof VH, Koziol DE, Calis KA, et al. Depression in women with spontaneous 46, XX primary ovarian insuffi-ciency. J Clin Endocrinol Metab 2011 ; 96 (2) : E278–87.
[50] Kalantaridou SN, Calis KA, Mazer NA, Godoy H, Nelson LM. A pilot study of an investigational testo-sterone transdermal patch system in young women with spontaneous premature ovarian failure. J Clin Endocrinol Metab 2005 ; 90 (12) : 6549–52.
[51] Carel JC, Mathivon L, Gendrel C, Ducret JP, Chaussain JL. Near normalization of final height with adapted doses of growth hormone in Turner's syndrome. J Clin Endocrinol Metab 1998 ; 83 (5) : 1462–6.
[52] Jeruss JS, Woodruff TK. Preservation of fertility in patients with cancer. N Engl J Med 2009 ; 360 (9) : 902–11.
[53] van Kasteren YM, Schoemaker J. Premature ovarian failure : a systematic review on therapeutic interven-tions to restore ovarian function and achieve pre-gnancy. Hum Reprod Update 1999 ; 5 (5) : 483–92.
[54] Cornet D, Alnot MO, Weil E, Sibony C, Mandelbaum J, Kuttenn F, et al. Oocyte donation – embryo donation. Contracept Fertil Sex 1996 ; 24 (9) : 691–3.
[55] HAS. Syndrome de Turner. Protocole national de diagnostic et de soins. 2008.