45,X/46,XX mosaicism below 30% of aneuploidy: Clinical implications in adult women from a reproductive medicine unit

European Journal of Endocrinology

Volumn 162, Issue 3, 2010, Pages 617-623

  Homer, L ^a,b,c,d   Le Martelot, M T ^a   Morel, F ^b,c,d,e   Amice, V ^e   Kerlan, V ^b,d,e   Collet, M ^a,b,d   De Braekeleer, M ^b,c,d,e  

^a CHU MORVAN   (France)

^b FACULTÉ DE MÉDECINE ET DES SCIENCES DE LA SANTÉ   (France)

^c INSERM   (France)

^d UNIVERSITÉ EUROPÉENNE DE BRETAGNE   (France)

^e BREST UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ESTRADIOL; FOLLITROPIN; INHIBIN B; LUTEINIZING HORMONE; THYROTROPIN;

ADULT; ANEUPLOIDY; ARTICLE; BODY HEIGHT; BODY MASS; CLINICAL FEATURE; CONTROLLED STUDY; CORRELATION ANALYSIS; FEMALE; FEMALE INFERTILITY; FOLLICULAR PHASE; GYNECOLOGICAL EXAMINATION; HUMAN; KARYOTYPE; KARYOTYPE 46,XX; MAJOR CLINICAL STUDY; MEDICAL RECORD REVIEW; PHENOTYPE; PRIORITY JOURNAL; RECURRENT DISEASE; REPRODUCTIVE HEALTH; SEX CHROMOSOME MOSAICISM; SPONTANEOUS ABORTION; X CHROMOSOME;

ABORTION, SPONTANEOUS; ADULT; ANALYSIS OF VARIANCE; ANEUPLOIDY; BODY HEIGHT; BODY MASS INDEX; CHI-SQUARE DISTRIBUTION; CHROMOSOMES, HUMAN, X; ESTRADIOL; FEMALE; FOLLICLE STIMULATING HORMONE; HUMANS; INFERTILITY, FEMALE; INHIBINS; KARYOTYPING; LUTEINIZING HORMONE; MENARCHE; MOSAICISM; RETROSPECTIVE STUDIES; THYROTROPIN; TURNER SYNDROME;

EID: 77149130491     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-09-0750     Document Type: Article

References (36)

1. Sybert VP & McCauley E. Turner's syndrome. New England Journal of Medicine 2004 351 1227-1238.
2. Guttenbach M, Koschorz B, Bernthaler U, Grimm T & Schmid M. Sex chromosome loss and aging: in situ hybridization studies on human interphase nuclei. American Journal of Human Genetics 1995 57 1143-1150.
3. Peschka B, Leygraaf J, Van der Ven K, Montag M, Schartmann B, Schubert R, van der Ven H & Schwanitz G. Type and frequency of chromosome aberrations in 781 couples undergoing intracytoplasmic sperm injection. Human Reproduction 1999 14 2257-2263.
4. Hreinsson JG, Otala M, Fridstrom M, Borgstrom B, Rasmussen C, Lundqvist M, Tuuri T, Simberg N, Mikkola M, Dunkel L & Hovatta O. Follicles are found in the ovaries of adolescent girls with Turner's syndrome. Journal of Clinical Endocrinology and Metabolism 2002 87 3618-3623.
5. Fechner PY, Davenport ML, Qualy RL, Ross JL, Gunther DF, Eugster EA, Huseman C, Zagar AJ & Quigley CA. Differences in follicle-stimulating hormone secretion between 45,X monosomy Turner syndrome and 45,X/46,XX mosaicism are evident at an early age. Journal of Clinical Endocrinology and Metabolism 2006 91 4896-4902.
6. Pasquino AM, Passeri F, Pucarelli I, Segni M & Municchi G. Spontaneous pubertal development in Turner's syndrome. Italian Study Group for Turner's Syndrome. Journal of Clinical Endocrinology and Metabolism 1997 82 1810-1813.
7. Meschede D, Lemcke B, Exeler JR, De Geyter C, Behre HM, Nieschlag E & Horst J. Chromosome abnormalities in 447 couples undergoing intracytoplasmic sperm injection - prevalence, types, sex distribution and reproductive relevance. Human Reproduction 1998 13 576-582.
8. Scholtes MC, Behrend C, Dietzel-Dahmen J, van Hoogstraten DG, Marx K, Wohlers S, Verhoeven H & Zeilmaker GH. Chromosomal aberrations in couples undergoing intracytoplasmic sperm injection: influence on implantation and ongoing pregnancy rates. Fertility and Sterility 1998 70 933-937.
9. Gekas J, Thepot F, Turleau C, Siffroi JP, Dadoune JP, Briault S, Rio M, Bourouillou G, Carre-Pigeon F, Wasels R & Benzacken B. Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men. Human Reproduction 2001 16 82-90.
10. Sonntag B, Meschede D, Ullmann V, Gassner P, Horst J, Nieschlag E & Behre HM. Low-level sex chromosome mosaicism in female partners of couples undergoing ICSI therapy does not significantly affect treatment outcome. Human Reproduction 2001 16 1648-1652.
11. Mau UA, Backert IT, Kaiser P & Kiesel L. Chromosomal findings in 150 couples referred for genetic counselling prior to intracytoplasmic sperm injection. Human Reproduction 1997 12 930-937.
12. ISCN. An International System for Human Cytogenetic Nomenclature. Eds Shaffer LG & Tommerup N. Basel Switzerland: S. Karger, 2005.
13. Morel F, Gallon F, Amice V, Le Bris MJ, Le Martelot MT, Roche S, Valeri A, Derrien V, Herry A, Amice J & De Braekeleer M. Sex chromosome mosaicism in couples undergoing intracytoplasmic sperm injection. Human Reproduction 2002 17 2552-2555.
14. Rochiccioli P, Battin J, Bertrand AM, Bost M, Cabrol S, le Bouc Y, Chaussain JL, Chatelain P, Colle M, Czernichow P, David M, Job JC, Lecornu M, Leheup B, Pierson M, Limal JM, Mariani R, Ponte C, Rappaport R & Tauber M. Final height in Turner syndrome patients treated with growth hormone. Hormone Research 1995 44 172-176.
15. de Saint Pol T. L'obésité en France: les écarts entre catégories sociales s'accroissent. INSEE Premiére 2007 1123 1-4.
16. Battin J. Turner syndrome and mosaicism. Bulletin de l'Académie Nationale de Médecine 2003 187 359-367 (discussion 368-370).
17. Rao E,Weiss B, Fukami M, Rump A, Niesler B, Mertz A, Muroya K, Binder G, Kirsch S, Winkelmann M, Nordsiek G, Heinrich U, Breuning MH, Ranke MB, Rosenthal A, Ogata T & Rappold GA. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nature Genetics 1997 16 54-63.
18. Ogata T & Matsuo N. Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features. Human Genetics 1995 95 607-629.
19. Zinn AR, Tonk VS, Chen Z, Flejter WL, Gardner HA, Guerra R, Kushner H, Schwartz S, Sybert VP, Van Dyke DL & Ross JL. Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1. American Journal of Human Genetics 1998 63 1757-1766.
20. Cabrol S. Turner syndrome. Annales d'Endocrinologie 2007 68 2-9.
21. Ohman M, Oksanen L, Kaprio J, Koskenvuo M, Mustajoki P, Rissanen A, Salmi J, Kontula K & Peltonen L. Genome-wide scan of obesity in Finnish sibpairs reveals linkage to chromosome Xq24. Journal of Clinical Endocrinology and Metabolism 2000 85 3183-3190.
22. Bakalov VK, Cooley MM, Quon MJ, Luo ML, Yanovski JA, Nelson LM, Sullivan G & Bondy CA. Impaired insulin secretion in the Turner metabolic syndrome. Journal of Clinical Endocrinology and Metabolism 2004 89 3516-3520.
23. De La Rochebrochard E. The age at puberty for girls and boys in France. Population 1999 54 933-962.
24. Lachlan KL, Youings S, Costa T, Jacobs PA & Thomas NS. A clinical and molecular study of 26 females with Xp deletions with special emphasis on inherited deletions. Human Genetics 2006 118 640-651.
25. Progetto Menopausa Italia Study Group. Premature ovarian failure: frequency and risk factors among women attending a network of menopause clinics in Italy. BJOG : an International Journal of Obstetrics and Gynaecology 2003 110 59-63.
26. Smotrich DB,Widra EA, Gindoff PR, Levy MJ, Hall JL & Stillman RJ. Prognostic value of day 3 estradiol on in vitro fertilization outcome. Fertility and Sterility 1995 64 1136-1140.
27. Fanchin R, Schonauer LM, Righini C, Guibourdenche J, Frydman R & Taieb J. Serum anti-Mullerian hormone is more strongly related to ovarian follicular status than serum inhibin B, estradiol, FSH and LH on day 3. Human Reproduction 2003 18 323-327.
28. Fanchin R, Taieb J, Lozano DH, Ducot B, Frydman R & Bouyer J. High reproducibility of serum anti-Mullerian hormone measurements suggests a multi-staged follicular secretion and strengthens its role in the assessment of ovarian follicular status. Human Reproduction 2005 20 923-927.
29. Hazout A, Bouchard P, Seifer DB, Aussage P, Junca AM & Cohen-Bacrie P. Serum antiMullerian hormone/Mullerian-inhibiting substance appears to be a more discriminatory marker of assisted reproductive technology outcome than follicle-stimulating hormone, inhibin B, or estradiol. Fertility and Sterility 2004 82 1323-1329.
30. Horsman DE, Dill FJ, McGillivray BC & Kalousek DK. X chromosome aneuploidy in lymphocyte cultures from women with recurrent spontaneous abortions. American Journal of Human Genetics 1987 28 981-987.
31. Kuo PL & Guo HR. Mechanism of recurrent spontaneous abortions in women with mosaicism of X-chromosome aneuploidies. Fertility and Sterility 2004 82 1594-1601.
32. Boue JG, Boue A & Lazar P. Chromosome aberrations in abortions. Annales de Genetique 1967 10 179-187.
33. de Grouchy J, Lamy M, Frezal J & Ribier J. XX/XO mosaics in Turner's syndrome. Two further cases. Lancet 1961 1 1369-1371.
34. Ogata T, Muroya K, Matsuo N, Shinohara O, Yorifuji T, Nishi Y, Hasegawa Y, Horikawa R & Tachibana K. Turner syndrome and Xp deletions: clinical and molecular studies in 47 patients. Journal of Clinical Endocrinology and Metabolism 2001 86 5498-5508.
35. Simpson JL & Rajkovic A. Ovarian differentiation and gonadal failure. American Journal of Human Genetics 1999 89 186-200.
36. Abruzzo MA & Hassold TJ. Etiology of nondisjunction in humans. Environmental and Molecular Mutagenesis 1995 25 38-47.