Phenotyping and genetic studies of 357 consecutive patients presenting with premature ovarian failure

European Journal of Endocrinology

Volumn 161, Issue 1, 2009, Pages 179-187

  Bachelot, Anne ^a,b   Rouxel, Agnés ^a   Massin, Nathalie ^a   Dulon, Jérome ^a   Courtillot, Carine ^a   Matuchansky, Christine ^c   Badachi, Yasmina ^d   Fortin, Anne ^d   Paniel, Bernard ^e   Lecuru, Fabrice ^f   Lefrere Belda, Marie Aude ^f   Constancis, Elisabeth ^e   Thibault, Elisabeth ^c   Meduri, Géri ^g,h   Guiochon Mantel, Anne ^g,h   Misrahi, Micheline ^b,h   Kuttenn, Frédérique ^a,b,d   Touraine, Philippe ^a,b  

^a SORBONNE UNIVERSITÉ   (France)

^b INSERM   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e CENTRE HOSPITALIER INTERCOMMUNAL DE CRÉTEIL   (France)

^f HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^g BICÊTRE HOSPITAL   (France)

^h UNIVERSITÉ PARIS SACLAY   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ESTRADIOL; FOLLITROPIN; FOLLITROPIN RECEPTOR; FRAGILE X MENTAL RETARDATION PROTEIN; INHIBIN B; LUTEINIZING HORMONE; MUELLERIAN INHIBITING FACTOR; INHBB PROTEIN, HUMAN; INHIBIN;

ADOLESCENT; ADULT; ARTICLE; AUTOIMMUNE POLYENDOCRINE SYNDROME TYPE 2; AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; AUTOIMMUNITY; BONE DENSITY; CHILD; CONTROLLED STUDY; ECHOGRAPHY; ESTRADIOL BLOOD LEVEL; FAMILY HISTORY; FEMALE; FOLLITROPIN BLOOD LEVEL; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HISTOLOGY; HORMONE BLOOD LEVEL; HUMAN; HUMAN TISSUE; KARYOTYPE; LUTEINIZING HORMONE BLOOD LEVEL; MAJOR CLINICAL STUDY; MULTIPLE ENDOCRINE ADENOMATOSIS; OVARY FOLLICLE; PELVIS RADIOGRAPHY; PHENOTYPIC VARIATION; PREMATURE OVARIAN FAILURE; PRIMARY AMENORRHEA; PRIORITY JOURNAL; PUBERTY; SCHOOL CHILD; SECONDARY AMENORRHEA; X CHROMOSOME ABERRATION; AUTOIMMUNE POLYENDOCRINOPATHY; BLOOD; CHROMOSOME ABERRATION; DELAYED PUBERTY; FEMALE INFERTILITY; GENETICS; MIDDLE AGED; OVARY; PATHOLOGY; PHENOTYPE; PREDICTION AND FORECASTING; X CHROMOSOME;

ADOLESCENT; ADULT; ANTI-MULLERIAN HORMONE; BONE DENSITY; CHILD; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, X; ESTRADIOL; FEMALE; FOLLICLE STIMULATING HORMONE; HUMANS; INFERTILITY, FEMALE; INHIBIN-BETA SUBUNITS; MIDDLE AGED; OVARIAN FAILURE, PREMATURE; OVARY; PHENOTYPE; POLYENDOCRINOPATHIES, AUTOIMMUNE; PREDICTIVE VALUE OF TESTS; PUBERTY; PUBERTY, DELAYED; YOUNG ADULT;

EID: 67650767033     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-09-0231     Document Type: Article

References (49)

1. Beck-Peccoz P & Persani L. Premature ovarian failure. Orphanet Journal of Rare Diseases 2006 1 9-14.
2. Goswami D & Conway GS. Premature ovarian failure. Hormone Research 2007 68 196-202.
3. Nelson LM. Clinical practice. Primary ovarian insufficiency. New England Journal of Medicine 2009 360 606-614.
4. Kim TJ, Anasti JN, Flack MR, Kimzey LM, Defensor RA & Nelson LM. Routine endocrine screening for patients with karyotypically normal spontaneous premature ovarian failure. Obstetrics and Gynecology 1997 89 777-779.
5. Rebar RW, Erickson GF & Yen SS. Idiopathic premature ovarian failure: clinical and endocrine characteristics. Fertility and Sterility 1982 37 35-41.
6. Gosden RG, Treloar SA, Martin NG, Cherkas LF, Spector TD, Faddy MJ & Silber SJ. Prevalence of premature ovarian failure in monozygotic and dizygotic twins. Human Reproduction 2007 22 610-615.
7. Aittomaki K, Lucena JL, Pakarinen P, Sistonen P, Tapanainen J, Gromoll J, Kaskikari R, Sankila EM, Lehvaslaiho H, Engel AR, Nieschlag E, Huhtaniemi I & de la Chapelle A. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell 1995 82 959-968.
8. Doherty E, Pakarinen P, Tiitinen A, Kiilavuori A, Huhtaniemi I, Forrest S & Aittomaki K. A novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure. Journal of Clinical Endocrinology and Metabolism 2002 87 1151-1155.
9. Allen LA, Achermann JC, Pakarinen P, Kotlar TJ, Huhtaniemi IT, Jameson JL, Cheetham TD & Ball SG. A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics. Human Reproduction 2003 18 251-256.
10. Beau I, Touraine P, Meduri G, Gougeon A, Desroches A, Matuchansky C, Milgrom E, Kuttenn F & Misrahi M. A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor. Journal of Clinical Investigation 1998 102 1352-1359.
11. Touraine P, Beau I, Gougeon A, Meduri G, Desroches A, Pichard C, Detoeuf M, Paniel B, Prieur M, Zorn JR, Milgrom E, Kuttenn F & Misrahi M. New natural inactivating mutations of the follicle-stimulating hormone receptor: correlations between receptor function and phenotype. Molecular Endocrinology 1999 13 1844-1854.
12. Meduri G, Touraine P, Beau I, Lahuna O, Desroches A, Vacher-Lavenu MC, Kuttenn F & Misrahi M. Delayed puberty and primary amenorrhea associated with a novel mutation of the human follicle-stimulating hormone receptor: clinical, histological, and molecular studies. Journal of Clinical Endocrinology and Metabolism 2003 88 3491-3498.
13. Di Pasquale E, Beck-Peccoz P & Persani L. Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene. American Journal of Human Genetics 2004 75 106-111.
14. Laissue P, Christin-Maitre S, Touraine P, Kuttenn F, Ritvos O, Aittomaki K, Bourcigaux N, Jacquesson L, Bouchard P, Frydman R, Dewailly D, Reyss AC, Jeffery L, Bachelot A, Massin N, Fellous M & Veitia RA. Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure. European Journal of Endocrinology 2006 154 739-744.
15. Di Pasquale E, Rossetti R, Marozzi A, Bodega B, Borgato S, Cavallo L, Einaudi S, Radetti G, Russo G, Sacco M, Wasniewska M, Cole T, Beck-Peccoz P, Nelson LM & Persani L. Identification of new variants of human BMP15 gene in a large cohort of women with premature ovarian failure. Journal of Clinical Endocrinology and Metabolism 2006 91 1976-1979.
16. Lourenco D, Brauner R, Lin L, De Perdigo A, Weryha G, Muresan M, Boudjenah R, Guerra-Junior G, Maciel-Guerra AT, Achermann JC, McElreavey K & Bashamboo A. Mutations in NR5A1 associated with ovarian insufficiency. New England Journal of Medicine 2009 360 1200-1210.
17. Rajkovic A, Pangas SA, Ballow D, Suzumori N & Matzuk MM. NOBOX deficiency disrupts early folliculogenesis and oocyte-specific gene expression. Science 2004 305 1157-1159.
18. Zhao XX, Suzumori N, Yamaguchi M & Suzumori K. Mutational analysis of the homeobox region of the human NOBOX gene in Japanese women who exhibit premature ovarian failure. Fertility and Sterility 2005 83 1843-1844.
19. Pigny P, Merlen E, Robert Y, Cortet-Rudelli C, Decanter C, Jonard S & Dewailly D. Elevated serum level of anti-mullerian hormone in patients with polycystic ovary syndrome: relationship to the ovarian follicle excess and to the follicular arrest. Journal of Clinical Endocrinology and Metabolism 2003 88 5957-5962.
20. Massin N, Gougeon A, Meduri G, Thibaud E, Laborde K, Matuchansky C, Constancis E, Vacher-Lavenu MC, Paniel B, Zorn JR, Misrahi M, Kuttenn F & Touraine P. Significance of ovarian histology in the management of patients presenting a premature ovarian failure. Human Reproduction 2004 19 2555-2560.
21. Arlot ME, Sornay-Rendu E, Garnero P, Vey-Marty B & Delmas PD. Apparent pre- and postmenopausal bone loss evaluated by DXA at different skeletal sites in women: the OFELY cohort. Journal of Bone and Mineral Research 1997 12 683-690.
22. Bates DW, Black DM & Cummings SR. Clinical use of bone densitometry: clinical applications. Journal of the American Medical Association 2002 288 1898-1900.
23. Oberle I, Rousseau F, Heitz D, Kretz C, Devys D, Hanauer A, Boue J, Bertheas MF & Mandel JL. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 1991 252 1097-1102.
24. Therman E, Laxova R & Susman B. The critical region on the human Xq. Human Genetics 1990 85 455-461.
25. Schlessinger D, Herrera L, Crisponi L, Mumm S, Percesepe A, Pellegrini M, Pilia G & Forabosco A. Genes and translocations involved in POF. American Journal of Medical Genetics 2002 111 328-333.
26. Conway GS, Kaltsas G, Patel A, Davies MC & Jacobs HS. Characterization of idiopathic premature ovarian failure. Fertility and Sterility 1996 65 337-341.
27. Mandon-Pepin B, Touraine P, Kuttenn F, Derbois C, Rouxel A, Matsuda F, Nicolas A, Cotinot C & Fellous M. Genetic investigation of four meiotic genes in women with premature ovarian failure. European Journal of Endocrinology 2008 158 107-115.
28. Massin N, Czernichow C, Thibaud E, Kuttenn F, Polak M & Touraine P. Idiopathic premature ovarian failure in 63 young women. Hormone Research 2006 65 89-95.
29. Kok HS, van Asselt KM, van der Schouw YT, Peeters PH & Wijmenga C. Genetic studies to identify genes underlying menopausal age. Human Reproduction Update 2005 11 483-493.
30. Tibiletti MG, Testa G, Vegetti W, Alagna F, Taborelli M, Dalpra L, Bolis PF & Crosignani PG. The idiopathic forms of premature menopause and early menopause show the same genetic pattern. Human Reproduction 1999 14 2731-2734.
31. Bachelot A, Meduri G, Massin N, Misrahi M, Kuttenn F & Touraine P. Ovarian steroidogenesis and serum androgen levels in patients with premature ovarian failure. Journal of Clinical Endocrinology and Metabolism 2005 90 2391-2396.
32. Kalantaridou SN, Calis KA, Vanderhoof VH, Bakalov VK, Corrigan EC, Troendle JF & Nelson LM. Testosterone deficiency in young women with 46,XX spontaneous premature ovarian failure. Fertility and Sterility 2006 86 1475-1482.
33. Massin N, Meduri G, Bachelot A, Misrahi M, Kuttenn F & Touraine P. Evaluation of different markers of the ovarian reserve in patients presenting with premature ovarian failure. Molecular Cell 2007 282 95-100.
34. Anasti JN. Premature ovarian failure: an update. Fertility and Sterility 1998 70 1-15.
35. Meduri G, Massin N, Guibourdenche J, Bachelot A, Fiori O, Kuttenn F, Misrahi M & Touraine P. Serum anti-Mullerian hormone expression in women with premature ovarian failure. Human Reproduction 2007 22 117-123.
36. Schmidt KL, Byskov AG, Nyboe AA, Muller J & Yding AC. Density and distribution of primordial follicles in single pieces of cortex from 21 patients and in individual pieces of cortex from three entire human ovaries. Human Reproduction 2003 18 1158-1164.
37. Lass A. Assessment of ovarian reserve: is there still a role for ovarian biopsy in the light of new data? Human Reproduction 2004 19 467-469.
38. Bakalov VK, Vanderhoof VH, Bondy CA & Nelson LM. Adrenal antibodies detect asymptomatic auto-immune adrenal insufficiency in young women with spontaneous premature ovarian failure. Human Reproduction 2002 17 2096-2100.
39. Bakalov VK, Anasti JN, Calis KA, Vanderhoof VH, Premkumar A, Chen S, Furmaniak J, Smith BR, Merino MJ & Nelson LM. Autoimmune oophoritis as a mechanism of follicular dysfunction in women with 46,XX spontaneous premature ovarian failure. Fertility and Sterility 2005 84 958-965.
40. Tsigkou A, Marzotti S, Borges L, Brozzetti A, Reis F, Candeloro P, Bacosi ML, Bini V, Petraglia F & Falorni A. High serum inhibin concentration discriminates autoimmune oophoritis from other forms of primary ovarian insufficiency. Journal of Clinical Endocrinology 2008 93 1263-1269.
41. O'Leary PC, Feddema PH, Michelangeli VP, Leedman PJ, Chew GT, KnuimanM, Kaye J &Walsh JP. Investigations of thyroid hormones - and antibodies based on a community health survey: the Busselton thyroid study. Clinical Endocrinology 2006 64 97-104.
42. Conway GS, Payne NN, Webb J, Murray A & Jacobs PA. Fragile X premutation screening in women with premature ovarian failure. Human Reproduction 1998 13 1184-1187.
43. Wittenberger MD, Hagerman RJ, Sherman SL, McConkie-Rosell A, Welt CK, Rebar RW, Corrigan EC, Simpson JL & Nelson LM. The FMR1 premutation and reproduction. Fertility and Sterility 2007 87 456-465.
44. Gersak K, Meden-Vrtovec H & Peterlin B. Fragile X premutation in women with sporadic premature ovarian failure in Slovenia. Human Reproduction 2003 18 1637-1640.
45. Bridges RS, Dibiase R, Loundes DD & Doherty PC. Prolactin stimulation of maternal behavior in female rats. Science 1985 227 782-784.
46. Elvin JA & Matzuk MM. Mouse models of ovarian failure. Reviews of Reproduction 1998 3 183-195.
47. Gallardo TD, John GB, Bradshaw K, Welt C, Reijo-Pera R, Vogt PH, Touraine P, Bione S, Toniolo D, Nelson LM, Zinn AR & Castrillon DH. Sequence variation at the human FOXO3 locus: a study of premature ovarian failure and primary amenorrhea. Human Reproduction 2008 23 216-221.
48. Simon AM, Goodenough DA, Li E & Paul DL. Female infertility in mice lacking connexin 37. Nature 1997 385 525-529.
49. Kumar TR, Wang Y, Lu N & Matzuk MM. Follicle stimulating hormone is required for ovarian follicle maturation but not male fertility. Nature Genetics 1997 15 201-204.