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GENETIC CAUSES OF INFERTILITY
Feodora Stipoljev
; Department of pathology, citology and citodiagnostics, General hospital
Abstract
ABSTRACT
During the last few years, there is a rapidly expansion of
new diagnostic techniques improving the detection of
genetic causes of infertility. It is followed by a precise
risk assessment of genetic change transmission and possibility
to chose the most adequate methode of medically
assisted reproduction. The treatment of severe
forms of both male and female infertility became possible
by the development of very sofisticated in vitro fertilising
techniques. Such patients carry the significantly
higher risk of having mutational change in one of the
disease genes involved in regulation of human reproduction.
The detection of mutation in these patients
improve the treatment and prognostic assessment in
potential future pregnancies. The unique guidelines for
the diagnosis and the treatment of infertile couples still
doesn’t exist. There are several categories of patients
selected by clinical features and associated with some
forms of genetic abnormalities. For particular genetic
disorders such as cystic fibrosis and fragile X syndrome,
their role in pathogenesis of infertility is very well
known. Every day, new genetic mutations associated
with infertility are discovered. The recent studies involving
investigations of significance of molecular mutations,
particulary in the gene for the β-subunit of FSH
and LH , showed thier diagnostic and clinical value in
evaluation both male and female infertility.
Keywords
infertility; genetics; medically assisted reproduction; mutation
Hrčak ID:
23477
URI
Publication date:
20.12.2007.
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