High prevalence of primary ovarian insufficiency in girls and young women with Nijmegen breakage syndrome: Evidence from a longitudinal study

Journal of Clinical Endocrinology and Metabolism

Volumn 95, Issue 7, 2010, Pages 3133-3140

  Chrzanowska, Krystyna H ^a   Szarras Czapnik, Maria ^a   Gajdulewicz, Maria ^a   Kalina, Maria A ^b   Gajtko Metera, Małgorzata ^a   Walewska Wolf, Małgorzata ^a   Szufladowicz Woźniak, Jolanta ^a   Rysiewski, Henryk ^a   Gregorek, Hanna ^a   Cukrowska, Bozena ^a   Syczewska, Małgorzata ^a   Piekutowska Abramczuk, Dorota ^a   Janas, Roman ^a   Krajewska Walasek, Małgorzata ^a  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^b MEDICAL UNIVERSITY OF SILESIA   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

ESTRADIOL; FOLLITROPIN; GONADOTROPIN; LUTEINIZING HORMONE;

ADOLESCENT; ADULT; AGE DISTRIBUTION; ARTICLE; BODY HEIGHT; BONE AGE; BREAST DEVELOPMENT; CHILD; CLINICAL ARTICLE; ECHOGRAPHY; ESTRADIOL BLOOD LEVEL; FEMALE; FOLLITROPIN BLOOD LEVEL; GENE DELETION; GENE MUTATION; GONADOTROPIN BLOOD LEVEL; GROWTH; GROWTH ACCELERATION; HOMOZYGOSITY; HORMONE DETERMINATION; HUMAN; HYPOPLASIA; INFANT; LONGITUDINAL STUDY; LUTEINIZING HORMONE BLOOD LEVEL; NIJMEGEN BREAKAGE SYNDROME; ORGAN SIZE; OVARY; OVARY INSUFFICIENCY; PELVIS RADIOGRAPHY; PRESCHOOL CHILD; PRIORITY JOURNAL; PUBERTY; SCHOOL CHILD; SEXUAL DEVELOPMENT; ANALYSIS OF VARIANCE; BLOOD; DELAYED PUBERTY; HYPOGONADISM; NONPARAMETRIC TEST; PREMATURE OVARIAN FAILURE; PREVALENCE;

ADOLESCENT; ANALYSIS OF VARIANCE; BODY HEIGHT; CHILD; CHILD, PRESCHOOL; ESTRADIOL; FEMALE; FOLLICLE STIMULATING HORMONE; HUMANS; HYPOGONADISM; INFANT; LONGITUDINAL STUDIES; LUTEINIZING HORMONE; NIJMEGEN BREAKAGE SYNDROME; OVARIAN FAILURE, PREMATURE; PREVALENCE; PUBERTY, DELAYED; STATISTICS, NONPARAMETRIC; YOUNG ADULT;

EID: 77954911868     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2009-2628     Document Type: Article

References (40)

1. Wegner RD, German JJ, Chrzanowska KH, Digweed M, Stumm M 2007 Chromosomal instability syndromes other than ataxia-telangiectasia. In: Ochs HD, Smith CIE, Puck JM, eds. Primary immunodeficiency diseases. A molecular and genetic approach. 2nd ed. Oxford, UK: Oxford University Press; 427-453
2. Carney JP, Maser RS, Olivares H, Davis EM, Le Beau M, Yates 3rd JR, Hays L, Morgan WF, Petrini JH 1998 The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response. Cell 93:477-486 (Pubitemid 28232091)
3. Varon R, Vissinga C, Platzer M, Cerosaletti KM, Chrzanowska KH, Saar K, Beckmann G, Seemanová E, Cooper PR, Nowak NJ, Stumm M, Weemaes CM, Gatti RA, Wilson RK, Digweed M, Rosenthal A, Sperling K, Concannon P, Reis A 1998 Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell 93:467-476
4. Czornak K, Chughtai S, Chrzanowska KH 2008 Mystery of DNA repair: the role of the MRN complex and ATM kinase in DNA damage repair. J Appl Genet 49:383-396
5. Duker NJ 2002 Chromosome breakage syndromes and cancer. Am J Med Genet 115:125-129
6. Chaudhuri J, Basu U, Zarrin A, Yan C, Franco S, Perlot T, Vuong B, Wang J, Phan RT, Datta A, Manis J, Alt FW 2007 Evolution of the immunoglobulin heavy chain class switch recombination mechanism. Adv Immunol 94:157-214 (Pubitemid 46856611)
7. Taylor AM, Groom A, Byrd PJ 2004 Ataxia-telangiectasia-like disorder (ATLD): its clinical presentation and molecular basis. DNA Repair (Amst) 3:1219-1225
8. Waltes R, Kalb R, Gatei M, Kijas AW, Stumm M, Sobeck A, Wieland B, Varon R, Lerenthal Y, Lavin MF, Schindler D, Dörk T 2009 Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. Am J Hum Genet 84:605-616
9. Weemaes CM, Hustinx TW, Scheres JM, van Munster PJ, Bakkeren JA, Taalman RD 1981 A new chromosomal instability disorder: the Nijmegen breakage syndrome. Acta Paediatr Scand 70:557-564
10. Varon R, Seemanova E, Chrzanowska K, Hnateyko O, Piekutowska-Abramczuk D, Krajewska-Walasek M, Sykut-Cegielska J, Sperling K, Reis A 2000 Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations. Eur J Hum Genet 8:900-902
11. Conley ME, Spinner NB, Emanuel BS, Nowell PC, Nichols WW 1986 A chromosomal breakage syndrome with profound immunodeficiency. Blood 67:1251-1256
12. Maraschio P, Peretti D, Lambiase S, Lo Curto F, Caufin D, Gargantini L, Minoli L, Zuffardi O 1986 A new chromosome instability disorder. Clin Genet 30:353-365
13. Zadik Z, Levin S, Prager-Lewin R, Laron Z 1978 Gonadal dysfunction in patients with ataxia telangiectasia. Acta Paediatr Scand 67:477-479 (Pubitemid 8355314)
14. German J, Ellis NA 1998 Bloom syndrome. In: Vogelstein B, Kinzler KW, eds. The genetic basis of human cancer. New York, London: McGraw-Hill; 317-332
15. Berkovitz GD, Zinkham WH, Migeon CJ 1984 Gonadal dysfunction in two siblings with Fanconi's anemia. Horm Res 19:137-141
16. Webster AD, Barnes DE, Arlett CF, Lehmann AR, Lindahl T 1992 Growth retardation and immunodeficiency in a patient with mutations in the DNA ligase I gene. Lancet 339:1508-1509
17. O'Driscoll M, Cerosaletti KM, Girard PM, Dai Y, Stumm M, Kysela B, Hirsch B, Gennery A, Palmer SE, Seidel J, Gatti RA, Varon R, Oettinger MA, Neitzel H, Jeggo PA, Concannon P 2001 DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. Mol Cell 8:1175-1185
18. Nelson LM 2009 Primary ovarian insufficiency. N Engl J Med 360:606-614
19. Goswami D, Conway GS 2007 Premature ovarian failure. Horm Res 68:196-202
20. Roger M, Lahlou N, Chaussain J-L 1996 Gonadotropin-releasing hormone testing in pediatrics. In: Ranke MB, ed. Diagnostics of endocrine function in children and adolescents. 2nd ed. Heidelberg, Leipzig: Johann Ambrosius Barth Verlag; 346-367
21. Chrzanowska KH, Romer T, Krajewska-Walasek M, Gajtko-Metera M, Szarras-Czapnik M, Abramczuk D, Varon R, Rysiewski H, Janas R, Syczewska 2000 Evidence for a high rate of gonadal failure in female patients with Nijmegen breakage syndrome. Eur J Hum Genet 8(Suppl 1):73 (Abstract)
22. Nathwani NC, Hindmarsh PC, Massarano AA, Brook CG 1998 Gonadotrophin pulsatility in girls with the Turner syndrome: modulation by exogenous sex steroids. Clin Endocrinol (Oxf) 49:107-113
23. Grumbach MM 2002 The neuroendocrinology of human puberty revisited. Horm Res 57(Suppl 2):2-14
24. Simpson JL, Rajkovic A 1999 Ovarian differentiation and gonadal failure. Am J Med Genet 89:186-200
25. Giri N, Batista DL, Alter BP, Stratakis CA 2007 Endocrine abnormalities in patients with Fanconi anemia. J Clin Endocrinol Metab 92:2624-2631 (Pubitemid 47037367)
26. Ammann AJ, Duquesnoy RJ, Good RA 1970 Endocrinological studies in ataxia-telangiectasia and other immunodeficiency diseases. Clin Exp Immunol 6:587-595
27. Gatti RA 1998 Ataxia-telangiectasia. In: Vogelstein B, Kinzler KW, eds. The genetic basis of human cancer. New York, London: McGraw-Hill; 275-300
28. Aguilar MJ, Kamoshita S, Landing BH, Boder E, Sedgwick RP 1968 Pathological observations in ataxia-teleangiectasia. J Neuropathol Exp Neurol 27:659-676
29. Brant WO, Rajimwale A, Lovell MA, Travers SH, Furness 3rd PD, Sorensen M, Oottamasathien S, Koyle MA 2006 Gonadoblastoma and Turner syndrome. J Urol 175:1858-1860
30. Borde V 2007 The multiple roles of the Mre11 complex for meiotic recombination. Chromosome Res 15:551-563
31. Xu Y, Ashley T, Brainerd EE, Bronson RT, Meyn MS, Baltimore D 1996 Targeted disruption of ATM leads to growth retardation, chromosomal fragmentation during meiosis, immune defects, and thymic lymphoma. Genes Dev 10:2411-2422 (Pubitemid 26341877)
32. Williams BR, Mirzoeva OK, Morgan WF, Lin J, Dunnick W, Petrini JH 2002 A murine model of Nijmegen breakage syndrome. Curr Biol 12:648-653 (Pubitemid 34315848)
33. Kang J, Bronson RT, Xu Y 2002 Targeted disruption of NBS1 reveals its roles in mouse development and DNA repair. EMBO J 21:1447-1455 (Pubitemid 34246523)
34. Difilippantonio S, Celeste A, Fernandez-Capetillo O, Chen HT, Reina San Martin B, Van Laethem F, Yang YP, Petukhova GV, Eckhaus M, Feigenbaum L, Manova K, Kruhlak M, Camerini-Otero RD, Sharan S, Nussenzweig M, Nussenzweig A 2005 Role of Nbs1 in the activation of the Atm kinase revealed in humanized mouse models. Nat Cell Biol 7:675-685 (Pubitemid 40975748)
35. Wilda M, Demuth I, Concannon P, Sperling K, Hameister H 2000 Expression pattern of the Nijmegen breakage syndrome gene, Nbs1, during murine development. Hum Mol Genet 9:1739-1744 (Pubitemid 30608607)
36. van der Burgt I, Chrzanowska KH, Smeets D, Weemaes C 1996 Nijmegen breakage syndrome. J Med Genet 33:153-156
37. Varon R, Dutrannoy V, Weikert G, Tanzarella C, Antoccia A, Stöckl L, Spadoni E, Krüger LA, di Masi A, Sperling K, Digweed M, Maraschio P 2006 Mild Nijmegen breakage syndrome phenotype due to alternative splicing. Hum Mol Genet 15:679-689 (Pubitemid 43264693)
38. Lespinasse J, Hoffmann P, Lauge A, Stoppa-Lyonnet D, Felmann F, Pons JC, Lesca G 2005 Chromosomal instability in two siblings with gonad deficiency: case report. Hum Reprod 20:158-162
39. Warcoin M, Lespinasse J, Despouy G, Dubois d'Enghien C, Laugé A, Portnoï MF, Christin-Maitre S, Stoppa-Lyonnet D, Stern MH 2009 Fertility defects revealing germline biallelic nonsense NBN mutations. Hum Mutat 30:424-430
40. Taylor AE 2001 Systemic adversities of ovarian failure. J Soc Gynecol Investig 8:S7-S9