Y chromosome microdeletions in idiopathic azoospermia and non-mosaic type of Klinefelter syndrome

Lee, Yong-Ho; Kim, Tak; Kim, Mee Hye; Kim, Young Tae; Kim, Sun Haeng

doi:10.1038/emm.2000.38

Cited by 24 publications

(12 citation statements)

References 40 publications

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“…In our study we found 12 (5%) cases with 47,XXY karyotype. Our results do not show microdeletion of Y chromosomes in patients with Klinefelter syndrome and are in accordance with the studies provided by Choe et al 28 , Tateno et al 29 , Lee et al 30 and Balkan et al 31 . De novo deletions of Yq are one of the most frequentlyoccurring chromosomal abnormalities in men and are believed to arise from recombination events between long stretches of highly repetitive DNA sequences during meiosis or early pre-implantation development 32 .…”

Section: Discussionsupporting

confidence: 93%

Incidence of Microdeletions in the Azf Region of the Y Chromosome in Slovak Patients With Azoospermia

R¹,

Varga²,

Strhakova³

et al. 2011

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub

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Section: Discussionsupporting

confidence: 93%

Incidence of Microdeletions in the Azf Region of the Y Chromosome in Slovak Patients With Azoospermia

R¹,

Varga²,

Strhakova³

et al. 2011

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub

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“…This type of population effect was recently shown to affect genetic associations (Jin et al, 2003;Xue et al, 2006), indicating that Koreans appeared to be closely related to Manchurians, especially to the Harbin population and to Korean people living in the Changchun region where our data were collected. The genetic affinity or small genetic distance between these two population groups might explain the similar results obtained in this study with those of Lee et al (2000) and Choe et al (2007). Conversely, significant differences in results among studies are, in most cases, associated with the relatively large genetic distance between groups studied.…”

Section: Discussionsupporting

confidence: 68%

“…The fact that Northeast Chinese/Asian KFS patients generally lack AZF microdeletions, as was shown in this study, might suggest that the occurrence of these two defects most likely represents two separate independent genetic events that can occur in the same individual by chance. This observation has also been illustrated in other studies (Lee et al, 2000;Plaseski et al, 2008;Behulova et al, 2011;Rajpert-De et al, 2011). Furthermore, it was proposed that Y chromosome deletions do not facilitate non-disjunction events in paternal sex chromosomes, and do not cause a gain of X chromosomes (Rajpert-De et al, 2011).…”

Section: Discussionsupporting

confidence: 65%

“…Some studies have shown an increased prevalence of classic AZF microdeletions in azoopspermic KFS patients, and suggested that partial AZFc microdeletions might not play a role in laying the genetic background for KFS azoospermic phenotypes (Mitra et al, 2006;Hadjkacem-Loukil et al, 2009;Ceylan et al, 2010). However, several studies have found no association between these two genetic disorders (Tateno et al, 1999;Lee et al, 2000;Ambasudhan et al, 2003;Choe et al, 2007;Balkan et al, 2008;Behulova et al, 2011).…”

Section: Introductionmentioning

confidence: 99%

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Male infertility in Northeast China: molecular detection of Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome

Zhang¹,

Zhang²,

Wang³

et al. 2013

Genet. Mol. Res.

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ABSTRACT. The prevalence of microdeletions of azoospermia factor (AZF) among azoospermic Klinefelter's syndrome (KFS) patients shows conflicting data. We aimed to detect this frequency in a Northeast Chinese population, and to investigate the possible association between AZF microdeletions and KFS by comparison with previous conflicting reports. Eighty men affected with KFS and a random healthy control group comprising 60 fertile men and women were recruited. AZF microdeletions were detected by multiplex polymerase chain reaction using 9 specific sequence-tagged sites. Karyotype analyses were performed on peripheral blood lymphocytes using standard G-banding. Finally, azoospermia was confirmed in 77 men affected with KFS and no AZF microdeletions were found. Karyotype analysis revealed 1 patient with karyotype 47,XXY,inv (9) (p11, q13), and 2 with mosaic karyotypes (46,XX/47,XXY and 46,XY/47,XXY). All other patients had karyotype 47,XXY. Review of the literature showed that these results 4973©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 12 (4): 4972-4980 (2013) AZF microdeletions in azoospermic KFS patients were similar to those of other regions of Northeast Asia, but differed from those obtained from Caucasian populations. Our results supported the proposal that AZF microdeletions and KFS result from separate genetic defects. The prevalence of AZF in azoospermic KFS patients varies among populations, and it might result from genetic drift or selective pressure. These results suggest that routine screening for classical AZF microdeletions among infertile azoospermic men with a 47,XXY karyotype might not be necessary in Northeast Chinese individuals. However, it remains imperative for patients considering assisted reproductive treatments, particularly for those with mosaic karyotypes.

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“…A deficiência de androgênios leva também à redução da massa testicular e azoospermia, em consonância com o caso descrito (10). Na República da Coréia, o estudo de 9 pacientes com azoospermia revelou 6 (66,7%) novos portadores dessa síndrome (11). Além dessas alterações, percebem-se modificações na tonalidade da voz e no padrão masculino de distribuição de pêlos.…”

Section: Discussionunclassified

Diagnóstico tardio da síndrome de Klinefelter: relato de caso

Maia¹,

Coelho²,

Andrade³

et al. 2002

Arq Bras Endocrinol Metab

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RESUMOKlinefelter's syndrome (KS) results from a genetic deficiency (kariotype 47,XXY) that can lead to hypergonadotropic hypogonadism, azoospermia and underdevelopment of secondary sex characteristics. The exact mechanism that determines the androgenic deficiency is not yet understood, and the degree of Leydig cell dysfunction is variable. KS is a chronic disease with serious repercussions over the male reproductive system and also an important cause of infertility worldwide. We report on a 33 year-old male patient with progressive bilateral and painful gynecomastia, hypergonadotropic hypogonadism and associated emotional disturbances. The presence of signs and symptoms of androgen deficiency along with the demonstration of a 47,XXY kariotype led to the diagnosis of KS involving the patient in an uncommon syndrome of infertility and feminization and its biopsychosocial implications. A SÍNDROME DE KLINEFELTER (SK) é um estado intersexual, determinado geneticamente pela duplicação do cromossomo X, caracterizada por alterações tardias que se tornarão evidentes após a puberdade (1). É uma forma de manifestação de ginecomastia, estimando-se sua incidência em 1 caso para cada 850 homens (2). Consiste em uma das causas mais importantes de infertilidade masculina e hipogonadismo primário em nosso meio (3,4). Cerca de 10% dos azoospérmicos são portadores de SK (5).

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Y chromosome microdeletions in idiopathic azoospermia and non-mosaic type of Klinefelter syndrome

Cited by 24 publications

References 40 publications

Incidence of Microdeletions in the Azf Region of the Y Chromosome in Slovak Patients With Azoospermia

Incidence of Microdeletions in the Azf Region of the Y Chromosome in Slovak Patients With Azoospermia

Male infertility in Northeast China: molecular detection of Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome

Diagnóstico tardio da síndrome de Klinefelter: relato de caso

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