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dc.contributor.author Rusica, Elena
dc.date.accessioned 2020-07-09T05:51:28Z
dc.date.available 2020-07-09T05:51:28Z
dc.date.issued 2018
dc.identifier.citation RUSICA, Elena. Genetic aspects of female infertility. In: MedEspera: the 7th Internat. Medical Congress for Students and Young Doctors: abstract book. Chișinău: S. n., 2018, p. 206-207. en_US
dc.identifier.uri https://medespera.asr.md/wp-content/uploads/Abastract-Book-2018.pdf
dc.identifier.uri http://repository.usmf.md/handle/20.500.12710/11171
dc.description Department of Molecular Biology and Human Genetics, Nicolae Testemitanu State University of Medicine and Pharmacy of the Republic of Moldova en_US
dc.description.abstract Introduction. Female infertility is defined as the inability to conceive after one year of regular unprotected intercourse for women younger than 35 years and within 6 months for women after 35 years. One in seven couples experiences infertility or subfertility, and in 40% of cases it is because of women. Clinically, female infertility is a highly heterogeneous pathology with a complex etiology that includes environmental and genetic factors. It is difficult to assess accurately the overall magnitude of the contribution of the genetics to female infertility as most, if not all, conditions are likely to have a genetic component. Nethertheless, a significant number of infertility phenotypes have been associated with specific genetic anomalies. Aim of the study. - This review aims to summarize current research on genetic diagnosis and genetic causes of female infertility. Material and methods. It has been used online databases and scientific articles that contain studies of female infertility. Results. All genetic defects can be divided into the following categories: chromosome aberrations, DNA copy number variants (micro deletions and duplications), single-gene disorders, complex conditions and epigenetic disorders. Chromosome abnormalities account for almost 60% of all spontaneous abortions, and the most common type, trisomy, is closely associated with advanced maternal age. There are 2 forms of female infertility: primary and secondary. Primary female infertility includes premature ovarian failure, polycystic ovary syndrome, endometriosis, and leiomyoma. Secondary infertility arises due to systemic or syndromic genetic defects, including developmental, endocrine, and metabolic defects. Genetic syndromes that manifest female infertility are fragile X syndrome, Noonan syndrome, sickle cell anemia, etc. Other notable conditions include disorders of sex development (SRY), reproductive dysgenesis disorders hypogonadotropic hypogonadism and Kallmann syndrome (KAl1, GNRH1, LEP) , and ambiguous genitalia an androgen insensitivity (AR). Endocrine defects comprise disruption of steroid synthesis and metabolism, and are caused by CYP17 and CYP19 mutation. Also, various metabolic defects (e.g., galactosemia ) and mutation in mitochondrial energy pathway (mitochondrial DNA genes) cause toxic effects and lead to secondary female infertility. Conclusions. The genetics of infertility is very complex and is dependent on different factors. Clearly the hope is that a greater understanding of the genetic control of infertility will bring low-risk treatment regimens that are effective and easy to administer. en_US
dc.language.iso en en_US
dc.publisher MedEspera en_US
dc.subject Female infertility en_US
dc.subject chromosome aberrations en_US
dc.subject hypogonadotropic hypogonadism en_US
dc.subject premature ovarian failure en_US
dc.title Genetic aspects of female infertility en_US
dc.type Article en_US


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  • MedEspera 2018
    The 7th International Medical Congress for Students and Young Doctors, May 3-5, 2018

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