Amenorréia e anormalidades do cromossomo X

Rosa, Rafael Fabiano Machado; Dibi, Raquel Papandreus; Picetti, Jamile dos Santos; Rosa, Rosana Cardoso Manique; Zen, Paulo Ricardo Gazzola; Graziadio, Carla; Paskulin, Giorgio Adriano

doi:10.1590/s0100-72032008001000006

Cited by 8 publications

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“…In the literature, CAs associated with SA have been described to mainly affect the X chromosome, 9 a finding that accords with that of our study reporting that among patients with CAs, 85.7% had abnormalities involving the X chromosome. In our sample, the main alteration involving the X chromosome was the deletion of parts of its long arm, which corresponded to 21.4% of the CA cases.…”

Section: Discussionsupporting

confidence: 92%

“…CAs described in association with SA can be numeric or structural, and they can occur in an isolated form or involve more than one cellular lineage. 6 , 9 Furthermore, these patients generally exhibit a wide range of phenotypic abnormalities, other clinical features, and hormonal profiles. 15 …”

Section: Discussionmentioning

confidence: 99%

“…Proper functioning of the gonads depends on the integrity of both X chromosomes. 9 A region of great importance related to normal ovary development and functioning is localized at the long arm of the X chromosome and ranging from Xq13.3 to Xq27. 16 Thus, deletions involving the long arm of this chromosome, as observed in three of our patients, can result in ovarian failure.…”

Section: Discussionmentioning

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: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

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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“…However, the clinical phenotype was not completely compatible with the described features of triple X females (Butnariu et al, 2013). The array-CGH test was essential for defining the break points and showed that although she indeed had 3 copies of SHOX (Xp22.33), which may explain her high stature (180 cm), she had only 1 copy of FOP1 (Xq28), a gene related to premature ovarian failure, which may have caused her hypogonadism hypogonadotropic (Rosa et al, 2008). Eighteen CNVs were classified as probably causative (Table 2).…”

Section: Discussionmentioning

confidence: 99%

Array-CGH analysis in patients with intellectual disability and/or congenital malformations in Brazil

et al. 2016

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ABSTRACT. In several patients, intellectual disability and/or congenital malformation may be attributed to chromosomal changes. In this study, we conducted an array-CGH test of 200 patients from the Northeast of Brazil with intellectual disability and/or congenital malformation. Blood samples were collected from the proband and from their parents when possible. DNA was extracted and investigated using the array-CGH test. Findings were evaluated for the pathogenicity in databases of benign and pathogenic changes (ISCA, UCSC, DGV, and DECIPHER). Forty-seven copy number variations (CNVs) were identified in 43/200 (21.5%) patients, including 25/98 (25.5%) in males and 22/102 (21.57%) in females. We considered 33 of these to be clinically significant, reaching a diagnosis rate of 16.5%. The sizes of the CNVs varied from 102 kb to 24 Mb in deletions and from 115 kb to 140 Mb in duplications. In 10/47 (21.3%) patients, the rearrangement involved a sex chromosome. Thirty-nine patients had one chromosomal aberration, while 2 concomitant abnormalities were detected in 4 patients. Ten of 47 CNVs (21.3%) were > 5Mb in size. Fifteen patients had CNVs related to known syndromes. This research highlights the contribution of submicroscopic chromosomal changes to the etiology of intellectual disability and/or congenital malformation, particularly the implication of chromosomal abnormalities detected using an array-CGH test, with a high rate of 16.5%. Thus, our results support the use of array-CGH replacing standard karyotype as the first-tier cytogenetic diagnostic test for patients with multiple congenital anomalies and/or intellectual disability.

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“…Common hormonal cause of primary amenorrhea includes pituitary dysfunction, chronic systemic disease, and absent ovarian function. [2] Hyperprolactinemia is associated with decreased estradiol concentrations and amenorrhea. Prolactin concentrations are high in women with amenorrhea.…”

Section: Introductionmentioning

confidence: 99%

Chromosomal abnormalities and hormonal disorders of primary amenorrhea patients in Egypt

El-Dahtory¹

2012

Indian J Hum Genet

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BACKGROUND:Primary amenorrhea is defined as the absence of menstruation and secondary sexual characteristics in phenotypic women aged 14 years or older. Hormonal disorders are main causes of primary amenorrhea. Common hormonal cause of primary amenorrhea includes pituitary dysfunction and absent ovarian function. The aim of this study was to estimate the incidence and types of chromosomal abnormalities in patients with primary amenorrhea in Egypt.MATERIALS AND METHODS:Chromosomal analysis and hormonal assay were carried out on 223 patients with primary amenorrhea that were referred from different parts of Egypt to Cytogenetic laboratory of Genetic Unit, Children Hospital Mansoura University, from July 2008 to December 2010. FISH technique was carried out in some of cases to more evaluation.RESULTS:The frequency of chromosomal abnormalities was 46 (20.63%) in primary amenorrhea patients. The chromosomal abnormalities can be classified into four main types. (1) The numerical abnormalities of the X chromosome were detected in 23 (50 %). (2) Structural abnormalities of the X chromosome were detected in 11 (23.91%). (3) Mosaicism of X chromosome was found in 10 (21.74%). (4) Male karyotype 46, XY was presented in 2 (4.35%).CONCLUSION:The present study showed that karyotype and FISH are necessary to detect the causes of primary amenorrhea. This study also revealed the incidence of chromosomal abnormalities in women with primary amenorrhea in Egypt is similar to that reported in previous literatures.

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Amenorréia e anormalidades do cromossomo X

Cited by 8 publications

References 0 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

Array-CGH analysis in patients with intellectual disability and/or congenital malformations in Brazil

Chromosomal abnormalities and hormonal disorders of primary amenorrhea patients in Egypt

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