Clinical pregnancies and livebirths achieved by intracytoplasmic injection of round headed acrosomeless spermatozoa with and without oocyte activation in familial globozoospermia: case report

Dırıcan, Enver Kerem; Işık, Ahmet Zeki; Vıcdan, Kubilay; Sözen, Eran; Suludere, Zekiye

doi:10.1111/j.1745-7262.2008.00248.x

Cited by 52 publications

(41 citation statements)

References 16 publications

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“…The presence of consanguineous marriages in families affected with globozoospermia and reports of two or more sibs in several families suggested a genetic contribution to globozoospermia in humans with an autosomal recessive mode of inheritance [6,[35][36][37][38][39][40]. Three genes segregating on an autosomal recessive mode have now been identified to be associated with globozoospermia in humans.…”

Section: Molecular Genetic Studiesmentioning

confidence: 99%

Genetic aspects of monomorphic teratozoospermia: a review

Braekeleer

Nguyen

Morel

et al. 2015

J Assist Reprod Genet

114

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Teratozoospermia is characterized by the presence of spermatozoa with abnormal morphology over 85 % in sperm. When all the spermatozoa display a unique abnormality, teratozoospermia is said to be monomorphic. Two forms of monomorphic teratozoospermia, representing less than 1 % of male infertility, are recognized: macrozoospermia (also called macrocephalic sperm head syndrome) and globozoospermia (also called round-headed sperm syndrome). Macrozoospermia is defined as the presence of a very high percentage of spermatozoa with enlarged head and multiple flagella. Meiotic segregation studies in 30 males revealed that over 90 % of spermatozoa were aneuploid, mainly diploid. Sperm DNA fragmentation studies performed in a few patients showed an increase in DNA fragmentation index compared to fertile men. Four mutations in the AURKC gene, a key player in meiosis and more particularly in spermatogenesis, have been found to be responsible for macrozoospermia. Globozoospermia is characterized by round-headed spermatozoa with an absent acrosome, an aberrant nuclear membrane and midpiece defects. The rate of aneuploidy of various chromosomes in spermatozoa from 26 globozoospermic men was slightly increased compared to fertile men. However, this increase was of the same order as that commonly found in infertile men with altered sperm parameters. The majority of the studies found that globozoospermic males had a sperm DNA fragmentation index higher than in fertile men. Mutations or deletions in three genes, SPATA16, PICK1 and DPY19L2, have been shown to be responsible for globozoospermia. Identification of the genetic causes of macrozoospermia and globozoospermia should help refine diagnosis and treatment of these patients, avoiding long and painful treatments. Elucidating the molecular causes of these defects is of utmost importance as intracytoplasmic sperm injection (ICSI) is very disappointing in these two pathologies.

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Section: Molecular Genetic Studiesmentioning

confidence: 99%

Genetic aspects of monomorphic teratozoospermia: a review

Braekeleer

Nguyen

Morel

et al. 2015

J Assist Reprod Genet

114

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“…In total globozoospermia, a reduced ability to fertilize is described in about one-half of the cases reported, for which oocyte activation is applied in various reports (5)(6)(7)(8)(9)(10)(11)16). Because a previous study from our group (1) demonstrated an increased occurrence of structural abnormalities in ''normal'' oval spermatozoa derived from PG men, we anticipated that these ''normal cells'' that are picked for ICSI could have the impaired ability to fertilize in common with total globozoospermia.…”

Section: Discussionmentioning

confidence: 99%

“…The poor fertilization rates with ICSI may be due to deficient oocyte activation by these spermatozoa (4). Oocyte activation with calcium ionophores or electric activation has been applied in some studies and resulted in better fertilization rates in most cases (3,(5)(6)(7)(8)(9)(10)(11). To our knowledge, no augmented risk on congenital abnormalities has been reported in such pregnancies.…”

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confidence: 99%

Intracytoplasmic sperm injection in partial globozoospermia

Dam

Pijnenburg

Hendriks

et al. 2012

Fertility and Sterility

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“…Various methods of AOA, including the use of a calcium ionophore and electrical and mechanical stimuli, have been reported to be effective for fertilisation in men with globozoospermia. 3,4 Strontium treatment, which is proven to induce calcium oscillations in mice, was found to be an effective method for AOA in cases of low or absent fertilisation after ICSI. [5][6][7] Whether strontium is effective at improving fertilisation by globozoospermic sperm has not been reported.…”

mentioning

confidence: 99%

“…Assessment of the acrosome with fluorescent Pisum sativum agglutinin staining of the human spermatozoa was also conducted 9 ( Figure 1). Ultrastructural characteristics of the round-headed sperm were evaluated using a scanning electron microscope (JEOL Technics Ltd, Akishima-Shi, Tokyo, Japan) 3 (Figure 1). Spherical heads without acrosomes are shown.…”

mentioning

confidence: 99%

Pregnancy outcome after intracytoplasmic sperm injection with strontium oocyte activation in a globozoospermic patient

Yang¹,

Wang²,

Liu³

et al. 2012

Asian J Androl

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We present here a case report of a globozoospermic patient whose partner became pregnant after intracytoplasmic sperm injection (ICSI) with assisted oocyte activation (AOA). Globozoospermia is characterized by the presence of 100% roundheaded spermatozoa lacking an acrosome. The lack of the acrosome, which renders spermatozoa unable to bind to the zona pellucida or fuse with the oocyte oolemma, is considered to be the cause of infertility in these patients. 1 The introduction of ICSI provided a possible solution for patients suffering from globozoospermia. Since then, many cases of successful pregnancies after ICSI with globozoospermic sperm have been reported; 2,3 however, the fertilisation rate after ICSI in these cases has been low, and some patients failed ICSI treatment because of limited or failed fertilisation. 1 Fertilisation failure was initially attributed to the reduced ability of globozoospermic sperm to activate the oocyte.Rybouchkin et al. 4 demonstrated that the fertilisation rate was improved by the addition of a calcium ionophore. After that, ICSI combined with AOA was effectively used in many studies to improve the fertilisation rate and embryo development and to achieve live births from globozoospermic sperm from men with previously failed fertilisation attempts. Various methods of AOA, including the use of a calcium ionophore and electrical and mechanical stimuli, have been reported to be effective for fertilisation in men with globozoospermia. 3,4 Strontium treatment, which is proven to induce calcium oscillations in mice, was found to be an effective method for AOA in cases of low or absent fertilisation after ICSI. [5][6][7] Whether strontium is effective at improving fertilisation by globozoospermic sperm has not been reported. We report a successful case of a twin pregnancy resulting in live births following ICSI and strontium oocyte activation with round-headed sperm.A couple with primary infertility of 5 years' duration visited our centre. Both members of the couple were 27 years old and healthy, with no physical problems other than the husband's semen parameters. The wife had no fertility problems. Analysis of a semen sample showed normal values for volume (3.3 ml), sperm concentration (56310 6 ml 21 ) and motility (45%). The Diff-Quik staining method revealed that 100% of the spermatozoa were round-headed and lacking an acrosome 8 (Figure 1). Assessment of the acrosome with fluorescent Pisum sativum agglutinin staining of the human spermatozoa was also conducted 9 (Figure 1). Ultrastructural characteristics of the round-headed sperm were evaluated using a scanning electron microscope (JEOL Technics Ltd, Akishima-Shi, Tokyo, Japan) 3 (Figure 1). Spherical heads without acrosomes are shown. The karyotypes of the couple were obtained from peripheral lymphocytes and were 46,XX in the wife and 46,XY in the husband.A conventional long protocol was used to stimulate follicular development. Two cycle attempts were conducted. In the first cycle, the couple decided to undergo the conventiona...

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Clinical pregnancies and livebirths achieved by intracytoplasmic injection of round headed acrosomeless spermatozoa with and without oocyte activation in familial globozoospermia: case report

Cited by 52 publications

References 16 publications

Genetic aspects of monomorphic teratozoospermia: a review

Genetic aspects of monomorphic teratozoospermia: a review

Intracytoplasmic sperm injection in partial globozoospermia

Pregnancy outcome after intracytoplasmic sperm injection with strontium oocyte activation in a globozoospermic patient

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