Chromosomal abnormalities detected by karyotyping among patients with secondary amenorrhea

a retrospective study

Autores

Palavras-chave:

Amenorrhea, Menopause, premature, Primary ovarian insufficiency, Abnormal karyotype, Chromosomes, human, X

Resumo

BACKGROUND: Chromosomal abnormalities (CAs) have been described in patients with secondary amenorrhea (SA). However, studies on this association are scarce. OBJECTIVES: To evaluate the frequency and types of CAs detected by karyotyping in patients with SA. DESIGN AND SETTING: This retrospective study was performed in a reference clinical genetic service in South Brazil. METHODS: Data were obtained from the medical records of patients with SA who were evaluated between 1975 and 2022. Fisher’s bicaudate exact test and Student’s t-test were used, and P < 0.05 was considered significant. RESULTS: Among 43 patients with SA, 14 (32.6%) had CAs, namely del (Xq) (n = 3), 45,X (n = 2), 46,X,r(X- )/45,X (n = 2), 46,XX/45,X (n = 1), 46,X,i(q10)/45,X (n = 1), 47,XXX (n = 1), 46,XX/47,XXX (n = 1), 46,XX/47,XX- ,+mar (n = 1), 45,XX,trob(13;14)(q10;q10)/46,XXX,trob(13;14)(q10;q10) (n = 1), and 46,XX,t(2;21)(q23;q11.2) (n = 1). Additional findings were observed mostly among patients with CA compared with those without CA (P = 0.0021). No difference in the mean age was observed between the patients with SA with or without CAs (P = 0.268025). CONCLUSIONS: CAs are common among patients with SA, especially those with short stature and additional findings. They are predominantly structural, involve the X chromosome in a mosaic, and are compatible with the Turner syndrome. Patients with SA, even if isolated, may have CAs, particularly del (Xq) and triple X.

Downloads

Não há dados estatísticos.

Biografia do Autor

Marina da Rocha Besson, Postgraduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre

BSc. Master´s Student, Postgraduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre (RS), Brazil.

Mateus dos Santos Taiarol, Postgraduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre

Undergraduate Student, Department of Clinical Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre (RS), Brazil.

Eliaquim Beck Fernandes, Postgraduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre

IUndergraduate Student, Department of Clinical Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre (RS), Brazil.

Isadora Bueloni Ghiorzi, Postgraduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre

Undergraduate Student, Department of Clinical Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre (RS), Brazil.

Maurício Rouvel Nunes, Postgraduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre

BSc. Doctoral Student, Postgraduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre (RS), Brazil.

Paulo Ricardo Gazzola Zen, Postgraduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre

PhD. Professor, Departments of Clinical Medicine and Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre (RS), Brazil.

Rafael Fabiano Machado Rosa, Postgraduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre

PhD. Professor, Departments of Clinical Medicine and Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre (RS), Brazil.

Referências

Rajangam S, Nanjappa L. Cytogenetic studies in amenorrhea. Saudi Med J. 2007;28(2):187–92. PMID: 17268694.

Dutta UR, Ponnala R, Pidugu VK, Dalal AB. Chromosomal abnormalities in amenorrhea: a retrospective study and review of 637 patients in South India. Arch Iran Med. 2013;16(5):267–70. PMID: 23641739.

Cortés-Gutiérrez EI, Dávila-Rodríguez MI, Vargas-Villarreal J, Cerda-Flores RM. Prevalence of chromosomal aberrations in Mexican women with primary amenorrhoea. Reprod Biomed Online. 2007;15(4):463–7. PMID: 17908412; https://doi.org/10.1016/s1472-6483(10)60374-4.

Klein DA, Poth MA. Amenorrhea: an approach to diagnosis and management. Am Fam Physician. 2013;87(11):781–8. PMID: 23939500.

Kwon SK, Chae HD, Lee KH, et al. Causes of amenorrhea in Korea: experience of a single large center. Clin Exp Reprod Med. 2014;41(1):29–32. PMID: 24693495; https://doi.org/10.5653/cerm.2014.41.1.29.

Safai A, Vasei M, Attaranzadeh A, Azad F, Tabibi N. Chromosomal abnormality in patients with secondary amenorrhea. Arch Iran Med. 2012;15(4):232–4. PMID: 22424042.

Deligeoroglou E, Athanasopoulos N, Tsimaris P, et al. Evaluation and management of adolescent amenorrhea. Ann NY Acad Sci. 2010;1205:23–32. PMID: 20840249; https://doi.org/10.1111/j.1749-6632.2010.05669.x.

Goswami D, Conway GS. Premature ovarian failure. Horm Res. 2007;68(4):196–202. 2007. PMID: 17495481; https://doi.org/10.1159/000102537.

Rosa RF, Dibi RP, Picetti J dos S, et al. Amenorréia e anormalidades do cromossomo X [Amenorrhea and X chromosome abnormalities]. Rev Bras Ginecol Obstet. 2008;30(10):511–7. Portuguese. PMID: 19082388; https://doi.org/10.1590/S0100-72032008001000006.

Hassum Filho PA, Silva IDC, Vereschi ITN. O espectro das falências ovarianas ligadas ao cromossomo X. Arq Bras Endocrinol Metab. 2001;45(4):339–42. https://doi.org/10.1590/S0004-27302001000400005.

Badalotti M, Arent A, Polanczick A, Petracco R, Petracco A. Falência ovariana precoce associada a deleção no braço longo do cromossomo: relato de dois casos e revisão da literatura. Rev Bras Ginecol Obstet. 2006;28(9):551–6. https://doi.org/10.1590/S0100-72032006000900008.

Yunis JJ. New chromosome techniques in the study of human neoplasia. Hum Pathol. 1981;12(6):540–9. PMID: 7275094; https://doi.org/10.1016/S0046-8177(81)80068-8.

Jones KL. Smith’s recognizable patterns of human malformation. 6th edition. Philadelphia: Elsevier Saunders; 2006.

McGowan-Jordan J, Simons A, Schmid M., editors. ISCN 2016. An International System for Human Cytogenetic Nomenclature. Basel: S. Karger; 2016.

Ghosh S, Roy S, Halder A. Study of frequency and types of chromosomal abnormalities in phenotypically female patients with amenorrhea in Eastern Indian population. J Obstet Gynaecol Res. 2020;46(9):1627–38. PMID: 32515109; https://doi.org/10.1111/jog.14318.

Persani L, Rossetti R, Cacciatore C, Bonomi M. Primary ovarian insufficiency: X chromosome defects and autoimmunity. J Autoimmun. 2009;33(1):35–41.PMID: 19346101; https://doi.org/10.1016/j.jaut.2009.03.004.

Gravholt CH, Andersen NH, Conway GS, et al. International Turner Syndrome Consensus Group. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol. 2017;177(3):G1–G70. PMID: 28705803; https://doi.org/10.1530/EJE-17-0430.

McAuley K, Cambridge L, Galloway S, Sullivan J, Manning P. De novo deletion of Xq associated with premature ovarian failure. Aust N Z J Med. 2000;30(1):89–90. PMID: 10800888; https://doi.org/10.1111/j.14455994.2000.tb01064.x.

Bione S, Sala C, Manzini C, et al. A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. Am J Hum Genet. 1998;62(3):533–41. PMID: 9497258; https://doi.org/10.1086/301761.

Lorda-Sanchez IJ, Ibañez AJ, Sanz RJ, et al. Choroideremia, sensorineural deafness, and primary ovarian failure in a woman with a balanced X-4 translocation. Ophthalmic Genet. 2000;21(3):185–9. PMID: 11035551; https://doi.org/10.1076/1381-6810(200009)2131-ZFT185.

Prueitt RL, Chen H, Barnes RI, Zinn AR. Most X;autosome translocations associated with premature ovarian failure do not interrupt X-linked genes. Cytogenet Genome Res. 2002;97(1–2):32–8. PMID: 12438735; https://doi.org/10.1159/000064052.

Bione S, Rizzolio F, Sala C, et al. Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B. Hum Reprod. 2004;19(12):2759–66. PMID: 15459172; https://doi.org/10.1093/humrep/deh502.

Mansouri MR, Schuster J, Badhai J, Stattin El, Losel R, et al. Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure. Hum Mol Genet. 2008;17(23):3776–83. PMID: 18782852; https://doi.org/10.1093/hmg/ddn274.

Bertini V, Ghirri P, Bicocchi MP, Simi P, Valetto A. Molecular cytogenetic definition of a translocation t(X;15) associated with premature ovarian failure. Fertil Steril. 2010;94(3):1097.e5–8. PMID: 20338563; https://doi.org/10.1016/j.fertnstert.2010.02.013.

Nishimura-Tadaki A, Wada T, Bano G, et al. Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure. J Hum Genet. 2011;56(2):156–60. PMID: 21150920; https://doi.org/10.1038/jhg.2010.155.

Dixit H, Rao L, Padmalatha V, et al. Genes governing premature ovarian failure. Reprod Biomed Online. 2010;20(6):724–40. PMID: 20382564; https://doi.org/10.1016/j.rbmo.2010.02.018.

Goswami D, Conway GS. Premature ovarian failure. Hum Reprod Update. 2005;11(4):391–410. PMID: 15919682; https://doi.org/10.1093/humupd/dmi012.

Shelling AN. Premature ovarian failure. Reproduction. 2010;140(5):633–41. PMID: 20716613; https://doi.org/10.1530/REP-09-0567.

Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH. Turner syndrome: mechanisms and management. Nat Rev Endocrinol. 2019;15(10):601–14. PMID: 31213699; https://doi.org/10.1038/s41574-019-0224-4.

Davenport ML. Approach to the patient with Turner syndrome. J Clin Endocrinol Metab. 2010;95(4):1487–95. PMID: 20375216; https://doi.org/10.1210/jc.2009-0926.

Martins RRS, Ramos HIB, Llerena Júnior JC, Almeida JCC. Investigação clínica e genética em meninas com baixa estatura idiopática. Arq Bras Endocrinol Metab. 2003;47(6):684–94. https://doi.org/10.1590/S000427302003000600010.

Tanaka T, Igarashi Y, Ozono K, et al. Frequencies of spontaneous breast development and spontaneous menarche in Turner syndrome in Japan. Clin Pediatr Endocrinol. 2015;24(4):167–73. PMID: 26568657; https://doi.org/10.1297/cpe.24.167.

Pasquino AM, Passeri F, Pucarelli I, Segni M, Municchi G. Spontaneous pubertal development in Turner’s syndrome. Italian Study Group for Turner’s Syndrome. J Clin Endocrinol Metab. 1997;82(6):1810–3. PMID: 9177387; https://doi.org/10.1210/jcem.82.6.3970.

Jacobs P, Dalton P, James R, et al. Turner syndrome: a cytogenetic and molecular study. Ann Hum Genet. 1997;61(Pt 6):471–83. PMID: 9543547; https://doi.org/10.1046/j.1469-1809.1997.6160471.x.

Ogata T, Matsuo N. Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features. Hum Genet. 1995;95(6):607–29. PMID: 7789944; https://doi.org/10.1007/BF00209476.

Leppig KA, Disteche CM. Ring X and other structural X chromosome abnormalities: X inactivation and phenotype. Semin Reprod Med. 2001;19(2):147–57. PMID: 11480912; https://doi.org/10.1055/s-2001-15395.

Roy S, Halder A, Pal P, Dutta A, Ghosh S. Isochromosome Xq: not a rare finding in short stature females with amenorrhea. Int J Curr Res. 2015;7(6):16876–80. Available from: https://www.journalcra.com/article/isochromosome-xq-not-rare-finding-short-stature-females-amenorrhoea. Accessed in 2022 (Jun 29).

Otter M, Schrander-Stumpel CT, Curfs LM. Triple X syndrome: a review of the literature. Eur J Hum Genet. 2010;18(3):265–71. PMID: 19568271; https://doi.org/10.1038/ejhg.2009.109.

Sugawara N, Maeda M, Manome T, Nagai R, Araki Y. Patients with 47, XXX karyotype who experienced premature ovarian failure (POF): two case reports. Reprod Med Biol. 2013;12(4):193–5. PMID: 29699146; https://doi.org/10.1007/s12522-013-0158-9.

Jacobs PA, Baikie AG, Brown WM, et al. Evidence for the existence of the human “super female”. Lancet. 1959;2(7100):423–5. PMID: 14406377; https://doi.org/10.1016/s0140-6736(59)90415-5.

Pouresmaeili F, Fazeli Z. Premature ovarian failure: a critical condition in the reproductive potential with various genetic causes. Int J Fertil Steril. 2014;8(1):1–12. PMID: 24696764.

Temoçin K, Vardar MA, Süleymanova D, et al. Results of cytogenetic investigation in adolescent patients with primary or secondary amenorrhea. J Pediatr Adolesc Gynecol. 1997;10(2):86–8. PMID: 9179808; https://doi.org/10.1016/s1083-3188(97)70057-3.

Ayed W, Amouri A, Hammami W, et al. Cytogenetic abnormalities in Tunisian women with premature ovarian failure. C R Biol. 2014;337(12):691–4. PMID: 25433561; https://doi.org/10.1016/j.crvi.2014.09.003.

Bertini V, Fogli A, Bruno R, et al. Maternal uniparental disomy 14 (Temple syndrome) as a result of a Robertsonian translocation. Mol Syndromol. 2017;8(3):131–8. PMID: 28588434; https://doi.org/10.1159/000456062.

Opitz O, Zoll B, Hansmann I, Hinney B. Cytogenic investigation of 103 patients with primary or secondary amenorrhea. Hum Genet. 1983;65(1):46–7. PMID: 6685689; https://doi.org/10.1007/bf00285026.

Hook EB. Exclusion of chromosomal mosaicism: tables of 90%, 95%and 99% confidence limits and comments on use. Am J Hum Genet. 1977;29(1):94–7. PMID: 835578.

Downloads

Publicado

2023-09-01

Como Citar

1.
Besson M da R, Taiarol M dos S, Fernandes EB, Ghiorzi IB, Nunes MR, Zen PRG, Rosa RFM. Chromosomal abnormalities detected by karyotyping among patients with secondary amenorrhea: a retrospective study. Sao Paulo Med J [Internet]. 1º de setembro de 2023 [citado 14º de março de 2025];141(5):1-7. Disponível em: https://periodicosapm.emnuvens.com.br/spmj/article/view/510

Edição

v. 141 n. 5 (2023)

Seção

Artigo Original

Licença

Creative Commons License
Este trabalho está licenciado sob uma licença Creative Commons Attribution 4.0 International License.