Reproductive outcomes in patients with male infertility because of Klinefelter's syndrome, Kartagener's syndrome, round-head sperm, dysplasia fibrous sheath, and ‘stump’ tail sperm

Garza, Sergio Alberto Dávila; Patrizio, Pasquale

doi:10.1097/gco.0b013e32835faae5

Cited by 44 publications

(15 citation statements)

References 94 publications

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“…To date, there is no evidence that pregnancy success rate may be different in globozoospermic patients with different mutational status. Many studies using ICSI for patients with globozoospermia reported low fertilization, pregnancy and live‐birth rates . The first explanation is the reduction or absence of the phospholipase C zeta (PLCζ), a testis‐specific phospholipase involved in the oocyte activation .…”

Section: Abnormalities Of the Sperm Headmentioning

confidence: 99%

Genetic abnormalities leading to qualitative defects of sperm morphology or function

et al. 2016

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Infertility, defined by the inability of conceiving a child after 1 year is estimated to concern approximately 50 million couples worldwide. As the male gamete is readily accessible and can be studied by a simple spermogram it is easier to subcategorize male than female infertility. Subjects with a specific sperm phenotype are more likely to have a common origin thus facilitating the search for causal factors. Male infertility is believed to be often multifactorial and caused by both genetic and extrinsic factors, but severe cases of male infertility are likely to have a predominant genetic etiology. Patients presenting with a monomorphic teratozoospermia such as globozoospermia or macrospermia with more than 85% of the spermatozoa presenting this specific abnormality have been analyzed permitting to identify several key genes for spermatogenesis such as AURKC and DPY19L2. The study of patients with other specific sperm anomalies such as severe alteration of sperm motility, in particular multiple morphological anomalies of the sperm flagella (MMAF) or sperm unability to fertilize the oocyte (oocyte activation failure syndrome) has also enable the identification of new infertility genes. Here we review the recent works describing the identification and characterization of gene defects having a direct qualitative effect on sperm morphology or function.

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Section: Abnormalities Of the Sperm Headmentioning

confidence: 99%

Genetic abnormalities leading to qualitative defects of sperm morphology or function

et al. 2016

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“…The various flagellar anomaly phenotypes associated with genetic mutations have already been described as ‘short tails’, ‘stump tails’ or ‘dysplasia of the fibrous sheath’ (Neugebauer et al ., ; Chemes et al ., ; Davila Garza & Patrizio, ). Ben Khelifa et al .…”

Section: Resultsmentioning

confidence: 99%

Sperm morphology: assessment, pathophysiology, clinical relevance, and state of the art in 2017

et al. 2017

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For over 30 years, sperm morphology assessment has been one of the most common tests in evaluation of fertility. This review examines the clinical relevance of sperm morphology assessment in the diagnosis of infertility and in assisted reproductive technology, as well as its analytical reliability. Publications on the pathophysiology, the analytical reliability of the test and its clinical relevance in diagnosis and in Assisted Reproductive Technology (ART) were evaluated. This review compared and discussed study methodologies and results, including patient characteristics, preparation, smear staining methods and classification systems. The assessment of the percentage of some abnormalities such as for example thin head, amorphous head, or bent or asymmetrical neck is of little clinical use, and their pathophysiology is not well explained as most are physiological traits. Some studies have highlighted correlations between the percentage of normal forms and functional sperm abnormalities, as well as correlations with ability to conceive in vivo and, in some situations, with the success of intra-uterine insemination (IUI) or conventional IVF. However, except in the case of some specific sperm defects (easy to detect with 99 or 100% of spermatozoa affected) and which are often linked to genetic disorders (globozoospermia, macrocephaly, decapitated sperm syndrome and fibrous sheath dysplasia), sperm morphology assessment has very poor sensitivity and specificity in the diagnosis of infertility. Moreover, there is very little evidence that indices of multiple sperm defects [sperm deformity index (SDI), teratozoospermia index (TZI), and multiple abnormalities index (MAI)] are relevant. Above all, many publications report a major lack of analytical reliability of this test, mainly in assessment of the details of sperm abnormalities. Many questions arise concerning how and when sperm morphology should be assessed, and how to interpret the thresholds of normal forms. Questions are raised on the real clinical impact of this test.

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“…Spermatozoa with defect in head–tail attachment showed low fertility potential; the arrest of early embryo development can be a consequence of centriole defective function (Chemes et al., ; Rawe et al., , ) or low chromatin and DNA quality (Rondanino et al., ); in a few cases, the pregnancies were obtained probably because the injected sperm head was equipped with a normal centriolar area (Gambera et al., ; Porcu et al., ). In conditions such as DFS, the reproductive outcome is poor, with low fertilisation and very few babies born (Dávila Garza & Patrizio, ). In any case, when these defects appear alone or when rarely are associated, the fertility potential is very low.…”

Section: Discussionmentioning

confidence: 99%

Sperm with fibrous sheath dysplasia and anomalies in head-neck junction: focus on centriole and centrin 1

et al. 2016

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Spermatozoa with a rare combination of two monomorphic sperm defects, dysplasia of the fibrous sheath (DFS) and alterations in head-mid-piece junction were analysed. The main focus was to explore the status of the centriole, a key organisation during fertilisation, using the centrin 1, a calcium-binding protein linked to this structure. The sperm quality was examined by light, scanning and transmission electron microscopy (SEM, TEM); immunocytochemistry was performed for tubulin, A-kinase anchor protein 4 (AKAP4) and centrin 1. Spermatozoa showed DFS defect associated with anomalies in head-tail attachment detected by SEM and TEM. Immunolocalisation of tubulin, AKAP4 and centrin 1 confirmed these alterations. Centrin 1 was visible in 67% of spermatozoa (in only 13% centrin localised in a normal position); in the majority of sperm centrin 1's location was altered, sometimes bent; often four spots, indicating the presence of two implantation fossae, were detected. At the centriolar level, immunoreactive fragments, frequently invading the entire short and thick tail, were observed. Centrin 1 is an essential component of the spermatozoa connecting piece and plays a role in centrosome dynamics during sperm morphogenesis and in zygotes and early embryos during spindle assembly. It is important to shed light on these rare conditions in order to better manage the patients during assisted reproductive technology.

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Reproductive outcomes in patients with male infertility because of Klinefelter's syndrome, Kartagener's syndrome, round-head sperm, dysplasia fibrous sheath, and ‘stump’ tail sperm

Cited by 44 publications

References 94 publications

Genetic abnormalities leading to qualitative defects of sperm morphology or function

Genetic abnormalities leading to qualitative defects of sperm morphology or function

Sperm morphology: assessment, pathophysiology, clinical relevance, and state of the art in 2017

Sperm with fibrous sheath dysplasia and anomalies in head-neck junction: focus on centriole and centrin 1

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