Genetic sperm defects and consanguinity

Baccetti, Baccio; Capitani, Serena; Collodel, Giulia; Cairano, G. Di; Gambera, Laura; Moretti, Elena; Piomboni, Paola

doi:10.1093/humrep/16.7.1365

Cited by 100 publications

(88 citation statements)

References 18 publications

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“…However, the defects they described did not involve the ICSI procedure [Kupker et al 1998]. Intacytoplasmic sperm injection excludes natural selection mechanisms and exposes the risk of transmission of genetic defects [Baccetti et al 2001, Carbone et al 1998]. Our study was designed to assess the relevance of TEM when selecting patients in which IVF would be successful.…”

Section: Resultsmentioning

confidence: 99%

Human Spermatozoa Ultrastructure Assessment in the Infertility Treatment by Assisted Reproduction Technique

Kotwicka

Depa-Martynów

Butowska

et al. 2007

Archives of Andrology

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The aim of this study was to prospectively investigate the spermatozoa ultrastructure in relation to the results of in vitro fertilization -embryo transer (IVF-ET).Forty-nine consecutive couples admitted for IVF-ET were prospectively evaluated for electron microscopic spermatozoa morphology and the outcome of IVF-ET. Thirty-four couples revealed successful fertilization, defined as presence of two pronuclei 14-16 hours after spermatozoa administration, while the remaining 15 formed the failure group. Spermatozoa fixed with 2.5% glutaraldehyd and embedded in Spurr's resin were analyzed with JAM 100 S transmission electron microscope (TEM) for the following ultrastructure abnormalities: head deformity, cytoplasmic residues, chromatin condensation failures, acrosomal alterations, neck defects, midpiece defects, principal piece and end-piece defects and immature forms.Successful IVF-ET couples revealed a significantly higher percentage of normal spermatozoa utrastructure (32.0 AE 13.1% versus 17.1 AE 13.4%, p < 0.001). Failed IVF-ET couples represented a significantly higher percentage of chromatin condensation failures (9.8 AE 5.1% versus 5.7 AE 5.3%, p < 0.05) and tail defects (16.7 AE 11.5% versus 7.2 AE 7.2%, p < 0.001). A positive correlation between normal ultrastructure spermatozoa percentage and fertilized oocytes percentage was found (r ¼ 0.35, p < 0.05).Our data suggest that spermatozoa TEM findings correlate with IVF-ET results. Ultrastructural estimation of spermatozoa can improve the diagnosis of male fertility and may explain some reasons of failure in assisted reproduction methods. We consider systematic TEM spermatozoa examination in cases with failed IVF-ET prior to intracytoplasmic sperm injection (ICSI). KEYWORDS in vitro fertilization, spermatozoa, ultrastructureAbbreviations: IVF-ET: in vitro fertilization -embryo transfer; TEM: transmission electron microscope; ICSI intracytoplasmic sperm injection.

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Section: Resultsmentioning

confidence: 99%

Human Spermatozoa Ultrastructure Assessment in the Infertility Treatment by Assisted Reproduction Technique

Kotwicka

Depa-Martynów

Butowska

et al. 2007

Archives of Andrology

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“…Aside from autosomal recessive conditions which cause learning difficulties, consanguinity does not have any effect on intelligence, [85] but there is a lesser extent evidence that consanguinity affects fertility [86,87]. In contrary, other studies reported that cconsanguinity is generally associated with increased fertility, partly a result of younger maternal age at marriage.…”

Section: Genetics Considerationsmentioning

confidence: 96%

Consanguineous Marriages in the Middle East: Nature Versus Nurture

Bowirrat¹,

Zaher²

2014

TOALTMEDJ

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Abstract:Family is societal institution that is conceptualized as "Vital" and "Valid" its importance is emphasized by social conservatives across cultures. Consanguinity is usually socially motivated and can be genetically harmful; it is a state of being descended from a common ancestor. It has been practiced by many societies around the globe from time immemorial, and a part of most civilizations as far back as the Old Testament of the Bible, and in the Arab world before the emerging of the Islam, and therefore, it is not monopoly where Islamic faith prevails.We scrutinize the effect of consanguinity on family health, its benefits and its detriments, and how should be tackled on medical and policy levels. We also pursue the Islamic attitude and discourses on the marriage custom, law, ethics and principles. Attention is then drawn to the cultural influences and challenges in the Arab word.

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“…Baccetti et al [66] assumed that recessive autosomal mutations account for the majority of sperm genetic defects. However, the genes affected by the mutations are unknown.…”

Section: Centrosome Abnormalitiesmentioning

confidence: 99%

“…Holstein et al [68] reported a case where the basal plate and implantation fossa were normal in morphology, while separation occurred between the proximal and distal centrioles. Baccetti et al [66] described a patient with sperm ruptures occurring between the nucleus and centriole region, between the anterior and caudal regions of the mid-piece, and between the mid-piece and principal piece. A number of variants are most likely possible for sperm decapitation.…”

Section: Centrosome Abnormalitiesmentioning

confidence: 99%

Ultrastructure of Spermatozoa from Infertility Patients

Брагина¹,

Bocharova²

2018

Spermatozoa - Facts and Perspectives

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Standard examination of human semen currently remains a main test for examination of male fertility disorders. Although parameters of sperm quality in fertile men are generally higher than in sterile ones, there is a substantial overlap between the two populations, indicating that other important factors affect fertility, but are not assessed in conventional assay. Currently, tests determining the functional properties of sperm have been intensively developed. This review considers an electron microscopic examination of sperm, which assesses the structure and function of the sperm nuclear, penetration and motor apparatus. The detection of sperm chromatin structure can help to understand the causes of early embryonic malformation. Genetically caused and functional disorders of the structure and function of spermatozoa are discussed. Indications for electron microscopic examination of spermatozoa in fertility disorders are given.

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Genetic sperm defects and consanguinity

Cited by 100 publications

References 18 publications

Human Spermatozoa Ultrastructure Assessment in the Infertility Treatment by Assisted Reproduction Technique

Human Spermatozoa Ultrastructure Assessment in the Infertility Treatment by Assisted Reproduction Technique

Consanguineous Marriages in the Middle East: Nature Versus Nurture

Ultrastructure of Spermatozoa from Infertility Patients

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