Genetic disorders in normally androgenized infertile men and the use of intracytoplasmic sperm injection as a way of treatment

A, Bonaccorsi; Martins, Rosa Rita Santos; Vargas, Fernando; Franco, J.G.; Botler, Judy

doi:10.1016/s0015-0282(97)81409-4

Cited by 12 publications

(9 citation statements)

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“…The incidence of major chromosome abnormalities in infertile males was significantly (P < 0.05) higher (13.4%) than that in control fertile males but similar to the literature data (2.2-15.2%) [3,7,14,22]. Autosome chromosome abnormalities (7.8%) predominated over sex chromosome aberrations (5.6%) in infertile men.…”

Section: Discussionsupporting

confidence: 86%

“…Chromosomal abnormalities in infertile males have been found within the range of 2.2-15.2% (on average 5.1%) compared to the normal population (0.2-0.6%), where 3.7% involve the sex chromosomes and 1.3% autosomes [3,7,14,20,22]. The observed differences in the results may be caused by the random groups of infertile males studied [6].…”

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confidence: 99%

“…The observed differences in the results may be caused by the random groups of infertile males studied [6]. In men with azoospermia or oligozoospermia, the incidence of chromosomal abnormalities is especially high, and varied from 13.1 to 23.1% and from 2.1 to 6.6%, respectively [3,10,22]. Sex chromosome abnormalities are predominant in azoospermic men (12.6%), whereas autosome abnormalities are more frequent in patients with oligozoospermia (3%) [17].…”

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confidence: 99%

“…The majority of translocations in infertile males are reciprocal translocations, which incidence is higher in the oligozoospermic group (1.7%) than in azoospermic men (0.6%). Robertsonian translocations have also been found more frequent in oligozoospermic group (0.9%) than in azoospermic males (0.3%) [3,5,20,22].…”

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Cytogenetic Analyses in Infertile Men

Lissitsina

Mikelsaar

Punab

2006

Archives of Andrology

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In order to assess the significance of chromosome abnormalities and polymorphic chromosomal variants in male infertility, the results of cytogenetic studies of 90 patients (32 azoospermic and 58 oligozoospermic men) were compared with those of 30 control fertile men in Estonia. Total chromosome alterations were revealed in 47.8% of infertile men. Major chromosomal abnormalities had a 10-fold increase (13.4%) in infertile males (15.6% in azoospermics and 12% in oligozoospermics) compared to the control group. In azoospermics, the most prevalent were sex chromosomal abnormalities (47,XXY)(12%), whereas a Robertsonian translocation, t(13;14) was found in one patient (3.1). In contrast, in the oligospermia group the most frequent abnormalities were autosomal (10%), of which 6.9% were translocations. Sex chromosomal abnormalities were found very rarely (1.7%). Incidence of chromosomal variants was high (38%), but similar in all groups. The most frequently observed polymorphisms involved chromosome 9. In conclusion, chromosomal abnormalities found with a high frequency in infertile males are a major cause of male infertility, and justify the requirement of cytogenetic analysis in every infertile man.

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Section: Discussionsupporting

confidence: 86%

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confidence: 99%

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confidence: 99%

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confidence: 99%

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Cytogenetic Analyses in Infertile Men

Lissitsina

Mikelsaar

Punab

2006

Archives of Andrology

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“…They may be present in 1.2-5% of the female partners [13][14][15]. However, abnormal karyotypes are much more frequent in infertile men: from 4.2 [14] to 6.2% [16], up to 10.6% in oligozoospermic and 17.3% in azoospermic men [17]. Aberrations consist predominantly of Klinefelter's syndrome (47,XXY) and Robertsonian or reciprocal translocations.…”

Section: Discussionmentioning

confidence: 99%

Intracytoplasmic Sperm Injection Pregnancy with Trisomy 20p and Monosomy 22q in a Newborn Resulting from a Balanced Paternal Translocation

Belin¹,

Farhat²,

Monset-Couchard³

1999

Neonatology

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In infertile men who carry a balanced reciprocal translocation, intracytoplasmic sperm injection (ICSI) may induce a pregnancy with an abnormal karyotype. This report describes a previously unreported paternal reciprocal translocation leading to a chromosomally unbalanced ICSI pregnancy. The triplet pregnancy resulted in 1 normal girl, 1 physically normal boy with the same balanced paternal translocation, and a severely malformed boy with trisomy 20p and monosomy 22q who died in the neonatal period.

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Genetic concerns for the subfertile male in the era of ICSI

et al. 1998

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The treatment of severe male factor infertility has seen remarkable advances in the last five years with the introduction and widespread use of intracytoplasmic sperm injection (ICSI). Although ICSI represents one of the most important advances in the treatment of the subfertile male, significant concerns exist regarding the potential for transmission of abnormal genes to the offspring because many of the natural barriers to conception have been bypassed. Because these couples were not able to conceive prior to ICSI, the long‐term genetic consequences in these offspring are largely undefined at this time. Genetic abnormalities related to male infertility need to be considered in terms of being (1) causative for male infertility and (2) potentially transmissible to the offspring. Reasons for pursuing a genetic evaluation include (1) establishing a diagnosis, (2) establishing a possible genetic origin, (3) clarifying the pattern of inheritance, and (4) providing information on natural history, variation and expression. The three most common known genetic factors related to male infertility are cystic fibrosis gene mutations leading to congenital absence of the vas deferens, Y‐chromosome microdeletions leading to spermatogenic impairment, and karyotype abnormalities. When congenital bilateral absence of the vas deferens with azoospermia is encountered, cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations are commonly the underlying cause. When testicular failure is manifest by azoospermia or severe oligoszoospermia, Y‐chromosome microdeletions may be present in approximately 10–15 per cent of otherwise normal appearing men. Karyotyping can uncover potentially transmissible genetic abnormalities in the infertile male including structural chromosomal disorders such as Klinefelter's (classic 47, XXY), mixed gonadal dysgenesis, chromosomal translocations and XYY syndromes. Finally, potential male infertility genes in animal models are reviewed. Without question, advances in clinical and basic research raise scientific and social issues that must be addressed. Copyright © 1998 John Wiley & Sons, Ltd.

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Genetic disorders in normally androgenized infertile men and the use of intracytoplasmic sperm injection as a way of treatment

Cited by 12 publications

References 9 publications

Cytogenetic Analyses in Infertile Men

Cytogenetic Analyses in Infertile Men

Intracytoplasmic Sperm Injection Pregnancy with Trisomy 20p and Monosomy 22q in a Newborn Resulting from a Balanced Paternal Translocation

Genetic concerns for the subfertile male in the era of ICSI

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