Research of mutations associated with male infertility

Postgraduate Thesis uoadl:2818870 325 Read counter

Unit:
ΠΜΣ Αναπαραγωγική-Αναγεννητική Ιατρική
Library of the School of Health Sciences
Deposit date:
2018-11-07
Year:
2018
Author:
Salygina Kristina
Supervisors info:
Λουτράδης Δημήτριος, Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Δρακάκης Πέτρος, Αναπληρωτής Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Ντόμαλη Κατερίνα, Επίκουρη Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Original Title:
Μελέτη μεταλλάξεων που σχετίζονται με την ανδρική υπογονιμότητα
Languages:
Greek
Translated title:
Research of mutations associated with male infertility
Summary:
Infertility is defined by the inability of child conception over a year. Infertility is estimated to affect about 50 million couples worldwide. Infertility affects about 15% of couples who want to conceive, while 50% of these cases are related to the male factor. In 30-40% of infertility cases the etiology of male infertility still remains unknown and is therefore defined as idiopathic male infertility. When assisted reproductive technologies are used to achieve pregnancy, an adequate genetic diagnosis of male infertility is of great importance in assessing whether a genetic abnormality will be transmitted to the offspring. In addition, there is a need for improved diagnostic biomarkers to assess the success rates of these assisted reproduction technologies. This study refers to the bibliography investigation on the mutations associated with various pathological phenotypes that regulate male infertility such as azoospermia, oligozoospermia, macrozoospermia, globozoospermia, asthenozoospermia. In conclusion, male infertility is a complex, multifactorial disorder whose underlying causes often remain unknown. Further investigation of the genetic and molecular lesions of spermatogenesis is necessary to improve diagnosis and develop more personalized therapies for men with idiopathic infertility.
Main subject category:
Health Sciences
Keywords:
Male infertility, Male infertility mutations, Spermatogenesis, Gene function, Gene damage, Azoospermia, Oligozoospermia, Macrozoospermia, Globozoospermia, Asthenozoospermia, SYCP3, SYCE1, HSF2, TAF4B, ZMYND15, KLHL10, AURKC, DPY19L2, SPATA16, PICK1, SEPT12
Index:
No
Number of index pages:
0
Contains images:
Yes
Number of references:
94
Number of pages:
143
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