Prevalence of chromosomal abnormalities in phenotypically normal and fertile adult males: large-scale survey of over 10 000 sperm donor karyotypes

Ravel, Célia; Berthaut, Isabelle; Bresson, J.; Siffroi, Jean Pierre

doi:10.1093/humrep/del024

Cited by 87 publications

(58 citation statements)

References 20 publications

(39 reference statements)

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“…The results of the current study revealed that 8.84 % of a large cohort of 4,659 infertile male patients had chromosomal abnormalities, which was significantly higher than the prevalence (0.37 %) in 10,202 phenotypically normal and fertile adult males [14]. The prevalence of sex chromosomal abnormalities in male patients was about 2-to 3-fold greater than that of autosomal abnormalities.…”

Section: Discussioncontrasting

confidence: 53%

Chromosomal abnormalities in men with pregestational and gestational infertility in northeast China

Zhang

Wang

et al. 2012

J Assist Reprod Genet

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Purpose To detect incidences and the types of chromosomal abnormalities in Chinese men with infertility and determine chromosomal factors association with various phenotypes. Methods Semen analysis and karyotype analysis by G-banding were carried out in 4,659 idiopathic infertile males; additionally, multiplex PCR using nine specific sequence-tagged sites (STSs) was used to detect azoospermia factor (AZF) microdeletions in 412 patients with Y chromosomal abnormalities. Results Male infertility was divided into pregestational infertility, characterized by failure to produce a fertilized ovum, and gestational infertility, characterized by embryo loss after fertilization. The former can result from azoospermia, oligozoospermia or oligoasthenozoospermia syndrome, while the latter is associated with developmental early pregnancy loss, habitual miscarriage and stillbirth. Among 4,659 male patients, 412 (8.84 %) showed abnormal chromosomal karyotypes, including 314 (6.74 %) with sex chromosomal abnormalities and 98 (2.10 %) with autosomal abnormalities. The prevalences of numerical and structural abnormalities among patients with chromosomal abnormalities were 259/412 (62.86 %) and 153/412 (37.14 %), respectively. Furthermore, structural sex chromosomal abnormalities were represented by various phenotypic profiles (46,XX, 47,XYY and 45,X/46, XY), and a prevalence of AZF microdeletions of 19/79 (24.05 %). AZF microdeletions were highly associated with Y chromosomal abnormalities (P=0.018). ConclusionVarious chromosomal abnormalities that result in male infertility could affect spermatogenesis or embryonic development at different levels. Sex chromosomal and autosomal abnormalities were highly associated with pregestational and gestational infertility, respectively. AZF microdeletions may play an important role in lowering the stability of the Y chromosome.

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Section: Discussioncontrasting

confidence: 53%

Chromosomal abnormalities in men with pregestational and gestational infertility in northeast China

Zhang

Wang

et al. 2012

J Assist Reprod Genet

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“…Chromosomal anomaly can produce abnormal gametes during meiosis, leading to a history of adverse pregnancy (recurrent pregnancy loss) or delivery outcomes (birth of congenital malformation fetus or dead fetus) [9,11]. The rate of chromosomal anomaly in general population is 0.37 %-1.86 % [1][2][3]. The rate of chromosomal anomaly in infertile population is 2-3 times the rate of chromosomal anomaly in general population [4-6, 8, 9].…”

Section: Discussionmentioning

confidence: 99%

“…The rate of chromosomal anomaly in the general population is 0.37 %-1.86 % [1][2][3]; while in the infertile population, it is as high as 3.95 %-14.3 % [4][5][6][7][8]. Chromosomal anomaly may decrease male potentia generandi and increase the history of female adverse pregnancy or delivery outcomes [9].…”

Section: Introductionmentioning

confidence: 99%

Karyotype analysis in large-sample infertile couples living in Central China: a study of 14965 couples

Liu

Kong

et al. 2013

J Assist Reprod Genet

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Objective To explore that it is necessary to routinely detect chromosomes in fertile couples, we detected peripheral blood lymphocyte karyotype in 14965 infertile couples living in Central China and analyzed the incidence and type of chromosomal anomaly. Methods G-banding karyotype analysis of peripheral blood lymphocytes was performed in 14965 couples who went to the outpatient department of our reproductive medical center for counseling on infertility between January 2004 and December 2011. Semen analysis was performed three times in all the men from the 14965 couples. Results The rate of chromosomal anomaly in the 14965 infertile couples was 3.84 % (1150/29930). The rate of chromosomal anomaly in the men from 14965 couples was 6.84 % (1024/14965) and in the women 0.84 % (126/14965). The rates of chromosomal anomaly were 1.69 % in normal semen group, 11.82 % in light oligoastheno-spermis group, 6.58 % in moderate to severe oligastheno-spermia group and 17.26 % in azoospermia group. Conclusion Since the rates of chromosomal anomaly are 1.69 % and 11.82 % even in normal semen group and light oligo-astheno-spermia group, respectively, it is necessary to detect peripheral blood lymphocyte karyotype in all infertile couples.

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“…Chez les patients infertiles, le pourcentage d'anomalies chromosomiques observées sur le caryotype fait à partir de cellules sanguines s'échelonne entre 2 et 8 %. Il peut atteindre 15 % chez les patients azoospermiques, soit 10 à 20 fois la fréquence retrouvée dans la population générale [4]. Le syndrome de Klinefelter (47, XXY) est la cause la plus fréquente d'hypogonadisme et d'infertilité chez l'homme.…”

Section: Anomalies Chromosomiquesunclassified

Génétique de l’infertilité masculine

et al. 2012

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> L'infertilité concerne de 10 % à 15 % des couples ayant un désir d'enfant et une composante masculine est retrouvée dans près de la moitié des cas. Dans une proportion importante de cas, une base génétique chromosomique ou génique connue, parfois transmise par les parents, est en cause. L'utilisation des nouvelles techniques de génotypage pangénomique a récemment permis d'impliquer de nouveaux gènes dans des phéno-types spécifiques d'infertilité masculine. Pour les patients concernés, ces avancées permettent de réaliser un diagnostic, d'affiner le pronostic et donc de mieux orienter la prise en charge. À terme, ce travail permettra de mieux comprendre les mécanismes moléculaires de la spermatogenèse et donc de proposer des solutions théra-peutiques qui pourront être applicables au plus grand nombre. < Anomalies chromosomiquesDes anomalies du nombre ou de la structure des autosomes, mais surtout des gonosomes, peuvent être impliquées. Chez les patients infertiles, le pourcentage d'anomalies chromosomiques observées sur le caryotype fait à partir de cellules sanguines s'échelonne entre 2 et 8 %. Il peut atteindre 15 % chez les patients azoospermiques, soit 10 à 20 fois la fréquence retrouvée dans la population générale [4]. Le syndrome de Klinefelter (47, XXY) est la cause la plus fréquente d'hypogonadisme et d'infertilité chez l'homme. Sa prévalence est 50 fois plus élevée chez les patients infertiles azoospermiques (14 %) que dans la population générale (0,2 %) [5]. Les microdélétions du chromosome Y

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Prevalence of chromosomal abnormalities in phenotypically normal and fertile adult males: large-scale survey of over 10 000 sperm donor karyotypes

Cited by 87 publications

References 20 publications

Chromosomal abnormalities in men with pregestational and gestational infertility in northeast China

Chromosomal abnormalities in men with pregestational and gestational infertility in northeast China

Karyotype analysis in large-sample infertile couples living in Central China: a study of 14965 couples

Génétique de l’infertilité masculine

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