scholarly journals Update on genetic screening and treatment for infertile men with genetic disorders in the era of assisted reproductive technology

2021 ◽  
Author(s):  
Seung Ryeol Lee ◽  
Tae Ho Lee ◽  
Seung-Hun Song ◽  
Dong Suk Kim ◽  
Kyung Hwa Choi ◽  
...  
Keyword(s):  
Male Infertility ◽  
Genetic Basis ◽  
Genetic Disorders ◽  
Genetic Diseases ◽  
Testicular Sperm Extraction ◽  
Vitro Fertilization ◽  
Infertile Men ◽  
Generation Sequencing

A genetic etiology of male infertility is identified in fewer than 25% of infertile men, while 30% of infertile men lack a clear etiology, resulting in a diagnosis of idiopathic male infertility. Advances in reproductive genetics have provided insights into the mechanisms of male infertility, and a characterization of the genetic basis of male infertility may have broad implications for understanding the causes of infertility and determining the prognosis, optimal treatment, and management of couples. In a substantial proportion of patients with azoospermia, known genetic factors contribute to male infertility. Additionally, the number of identified genetic anomalies in other etiologies of male infertility is growing through advances in whole-genome amplification and next-generation sequencing. In this review, we present an up-to-date overview of the indications for appropriate genetic tests, summarize the characteristics of chromosomal and genetic diseases, and discuss the treatment of couples with genetic infertility by microdissection-testicular sperm extraction, personalized hormone therapy, and in vitro fertilization with pre-implantation genetic testing.

Legal restrictions on pre-implantation genetic diagnostics in the framework of in vitro fertilization procedure: foreign experience and Russian perspective

2019 ◽  
Author(s):  
N.A. Altinnik , S.S. Zenin , V.V. Komarova et all
Keyword(s):  
In Vitro Fertilization ◽  
Assisted Reproductive Technologies ◽  
Genetic Diseases ◽  
Genetic Diagnosis ◽  
Reproductive Technologies ◽  
Legal Regulation ◽  
Genetic Diagnostics ◽  
Vitro Fertilization ◽  
Medical Indications

The article discusses the factors that determine the content of the legal limitations of pre-implantation genetic diagnosis in the framework of the in vitro fertilization procedure, taking into account international experience and modern domestic regulatory legal regulation of the field of assisted reproductive technologies. The authors substantiates the conclusion that it is necessary to legislate a list of medical indications for preimplantation genetic diagnosis, as well as the categories of hereditary or other genetic diseases diagnosed in the framework of this procedure.

scholarly journals Sperm Selection Procedures for Optimizing the Outcome of ICSI in Patients with NOA

2021 ◽  
Vol 10 (12) ◽  
pp. 2687
Author(s):  
Kaan Aydos ◽  
Oya Sena Aydos
Keyword(s):  
In Vitro Selection ◽  
Assisted Reproductive Technologies ◽  
Reproductive Technologies ◽  
Testicular Sperm Extraction ◽  
Obstructive Azoospermia ◽  
Sperm Retrieval ◽  
Vitro Fertilization ◽  
Great Hope ◽  
Future Fertility

Retrieving spermatozoa from the testicles has been a great hope for patients with non-obstructive azoospermia (NOA), but relevant methods have not yet been developed to the level necessary to provide resolutions for all cases of NOA. Although performing testicular sperm extraction under microscopic magnification has increased sperm retrieval rates, in vitro selection and processing of quality sperm plays an essential role in the success of in vitro fertilization. Moreover, sperm cryopreservation is widely used in assisted reproductive technologies, whether for therapeutic purposes or for future fertility preservation. In recent years, there have been new developments using advanced technologies to freeze and preserve even very small numbers of sperm for which conventional techniques are inadequate. The present review provides an up-to-date summary of current strategies for maximizing sperm recovery from surgically obtained testicular samples and, as an extension, optimization of in vitro sperm processing techniques in the management of NOA.

scholarly journals Testis-Specific SEPT12 Expression Affects SUN Protein Localization and is Involved in Mammalian Spermiogenesis

2019 ◽  
Vol 20 (5) ◽  
pp. 1163 ◽  
Author(s):  
Chung-Hsin Yeh ◽  
Ya-Yun Wang ◽  
Shi-Kae Wee ◽  
Mei-Feng Chen ◽  
Han-Sun Chiang ◽  
...  
Keyword(s):  
Male Infertility ◽  
Nuclear Membrane ◽  
Sperm Count ◽  
Protein Localization ◽  
Cancer Cell Line ◽  
Structural Defects ◽  
Preimplantation Embryos ◽  
Severe Oligozoospermia ◽  
Vitro Fertilization

Male infertility is observed in approximately 50% of all couples with infertility. Intracytoplasmic sperm injection (ICSI), a conventional artificial reproductive technique for treating male infertility, may fail because of a severe low sperm count, immotile sperm, immature sperm, and sperm with structural defects and DNA damage. Our previous studies have revealed that mutations in the septin (SEPT)-coding gene SEPT12 cause teratozoospermia and severe oligozoospermia. These spermatozoa exhibit morphological defects in the head and tail, premature chromosomal condensation, and nuclear damage. Sperm from Sept12 knockout mice also cause the developmental arrest of preimplantation embryos generated through in vitro fertilization and ICSI. Furthermore, we found that SEPT12 interacts with SPAG4, a spermatid nuclear membrane protein that is also named SUN4. Loss of the Spag4 allele in mice also disrupts the integration nuclear envelope and reveals sperm head defects. However, whether SEPT12 affects SPAG4 during mammalian spermiogenesis remains unclear. We thus conducted this study to explore this question. First, we found that SPAG4 and SEPT12 exhibited similar localizations in the postacrosomal region of elongating spermatids and at the neck of mature sperm through isolated murine male germ cells. Second, SEPT12 expression altered the nuclear membrane localization of SPAG4, as observed through confocal microscopy, in a human testicular cancer cell line. Third, SEPT12 expression also altered the localizations of nuclear membrane proteins: LAMINA/C in the cells. This effect was specifically due to the expression of SEPT12 and not that of SEPT1, SEPT6, SEPT7, or SEPT11. Based on these results, we suggest that SEPT12 is among the moderators of SPAG4/LAMIN complexes and is involved in the morphological formation of sperm during mammalian spermiogenesis.

scholarly journals Evaluation of Nicked Human Chorionic Gonadotropin Content in Clinical Specimens by a Specific Immunometric Assay

1999 ◽  
Vol 45 (1) ◽  
pp. 68-77 ◽  
Author(s):  
Galina Kovalevskaya ◽  
Steven Birken ◽  
Tatsu Kakuma ◽  
John Schlatterer ◽  
John F O’Connor
Keyword(s):  
Chorionic Gonadotropin ◽  
Human Chorionic Gonadotropin ◽  
Normal Pregnancy ◽  
Physical Separation ◽  
Vitro Fertilization ◽  
Clinical Specimens ◽  
Reference Preparation ◽  
Ectopic Pregnancies

Abstract We report the development and characterization of an IRMA for the direct measurement of nicked human chorionic gonadotropin (hCGn) in blood and urine. hCGn derived from a reference preparation of hCG used as an immunogen elicits monoclonal antibodies (mAbs) with enhanced recognition of human luteinizing hormone epitopes. The most specific assay for pregnancy hCGn is an IRMA composed of one mAb to choriocarcinoma-derived hCGn (C5) and a second mAb developed from immunization with normal-pregnancy hCGn. This assay was used to evaluate hCGn profiles in normal, in vitro fertilization, Down syndrome, and ectopic pregnancies. In all pregnancies, hCGn was usually present in much lower concentrations than the non-nicked hCG isoform. Our results suggest that some form of physical separation from the overwhelming quantities of non-nicked hCG present in clinical specimens will be required before accurate immunochemical estimations of hCGn can be made.

Infertile Men and in Vitro Fertilization Therapy

1985 ◽  
Vol 44 (3) ◽  
pp. 429-430
Author(s):  
Jacques Cohen ◽  
Jonathan Hewitt
Keyword(s):  
In Vitro Fertilization ◽  
Vitro Fertilization ◽  
Infertile Men

A modern view of male infertility

1994 ◽  
Vol 6 (1) ◽  
pp. 93 ◽  
Author(s):  
SJ Silber
Keyword(s):  
Male Infertility ◽  
Y Chromosome ◽  
Obstructive Azoospermia ◽  
Male Factor Infertility ◽  
Male Factor ◽  
Sperm Retrieval ◽  
Modern Approach ◽  
Vitro Fertilization ◽  
Defective Spermatogenesis

It is archaic to view male factor infertility today separately from in vitro fertilization (IVF) and treatment of the female partner. Oligoasthenozoospermia may be an inherited condition (most likely on the Y chromosome), and is refractory to any treatment of the male including hormones and varicocelectomy. IVF technology is the only justifiable approach for achieving a pregnancy in these couples. The reasons for this view and the suggested modern approach to couples with oligoasthenozoospermia are outlined in this review. However, obstructive azoospermia is different as it can be successfully corrected with microsurgery in over 90% of men. When it cannot be corrected, as in congenital absence of vas, microsurgical sperm retrieval combined with IVF can still be highly effective in producing pregnancy with sperm from the husband. The most important arena for research into male infertility in the next decade will be to map out the deletions on the Y chromosome that might result in defective spermatogenesis, and which probably cause most cases of non-obstructive male factor infertility.

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