Falência ovariana precoce associada a deleção no braço longo do cromossomo: relato de dois casos e revisão da literatura

Badalotti, Mariangela; Arent, Adriana; Polanczick, Aline; Petracco, Rafaella; Petracco, Álvaro

doi:10.1590/s0100-72032006000900008

Cited by 2 publications

(3 citation statements)

References 22 publications

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“…Locus POF1 involves the segment between Xq26 to Xqter, while locus POF2 involves the segment between Xq13.3 to Xq22. 10 , 11 , 16 Locus POF1 and locus POF2 are clinically associated with ovarian failure in patients aged 24–29 years old and in those aged 16–21 years old, respectively. 18 In our sample, the two patients presenting deletions involving POF1 (regions q22q28 and q24q28) were diagnosed with ovarian failure at 27 and 28 years old, respectively.…”

Section: Discussionmentioning

confidence: 99%

“…As previously mentioned, these findings are consistent with those in the literature. 11,18 The genes placed in the POF1 and POF2 loci of X chromosome are as follows: CHM (Xq21.1) (OMIM *300390), POF1B (Xq21.1) (OMIM *300435), XPNPEP2 (Xq25) (OMIM *300145), FMR1 (Xq27.3) (OMIM *309550), and FMR2 (Xq28) (OMIM *300806). [19][20][21][22][23][24][25][26] However, despite the description of all these candidate genes, the cause of premature ovarian failure remains unknown in most cases.…”

Section: Discussionmentioning

confidence: 99%

“…5 However, studies on SA and CAs are few, and most of them are case reports or case series. [9][10][11] The patients were also classified as either syndromic or non-nonsyndromic by a single clinical geneticist. Additionally, the patients were divided into those with hypogonadotropic hypogonadism or hypergonadotropic hypogonadism.…”

Section: Introductionmentioning

confidence: 99%

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Chromosomal abnormalities detected by karyotyping among patients with secondary amenorrhea: a retrospective study

Besson¹,

Taiarol

Fernandes

et al. 2023

Sao Paulo Med. J.

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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.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Chromosomal abnormalities detected by karyotyping among patients with secondary amenorrhea: a retrospective study

Besson¹,

Taiarol

Fernandes

et al. 2023

Sao Paulo Med. J.

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Falência ovariana precoce associada à deleção no braço longo do cromossomo: relato de dois casos e revisão da literatura

Roller,

Omairi,

Coutinho

et al. 2024

Arch. Health

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Introdução: A falência ovariana precoce (FOP) caracteriza-se por amenorreia, hipogonadismo e aumento dos níveis das gonadotrofinas antes dos 40 anos. A etiologia da FOP pode ser primária, devido a mutações genéticas no cromossomo X ou nos genes autossômicos, e secundária, causada por infecções e iatrogenia. A causa genética é prevalente após as causas idiopáticas, sendo as deleções e translocações cromossômicas as principais causas de atresia folicular acelerada, levando à infertilidade na maioria dos casos. Objetivo: Este artigo visa revisar a literatura para elucidar os mecanismos genéticos que causam a FOP. Método: Foram consultados artigos científicos e de revisão nas bases de dados LILACS, SciELO e Google Acadêmico, entre 2001 e 2019. Resultados: Estudos mostram que para a formação folicular, os dois cromossomos X precisam estar intactos. Entretanto, na FOP, dois segmentos do braço longo do cromossomo são afetados: os loci Xq26-qter (FOP 1) e Xq13.3-Xq22 (FOP 2). A deleção distal de FOP 1 causa falência ovariana em mulheres de 24 a 29 anos, enquanto FOP 2 afeta mulheres de 16 a 19 anos, com repercussões clínicas mais críticas. Considerações Finais: A FOP é uma condição clínica complexa, impactando significativamente a vida das portadoras, prejudicando seu ciclo reprodutivo. Uma investigação clínica adequada e reposição hormonal são fundamentais para manter o trofismo do trato reprodutivo dessas mulheres.

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Falência ovariana precoce associada a deleção no braço longo do cromossomo: relato de dois casos e revisão da literatura

Cited by 2 publications

References 22 publications

Chromosomal abnormalities detected by karyotyping among patients with secondary amenorrhea: a retrospective study

Chromosomal abnormalities detected by karyotyping among patients with secondary amenorrhea: a retrospective study

Falência ovariana precoce associada à deleção no braço longo do cromossomo: relato de dois casos e revisão da literatura

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