Genetic causes of women infertility
Abstract
Background. We would like to emphasize some genetic causes of female infertility.
Methods. The retrospective study included all women referred to Department of Obstetrics and Gynaecology, Division of Medical Genetics, in the period between 1994 and 2008 due to infertility. Cytogenetic studies and DNA analysis were carried out.
Results. 254 women were included in genetic counselling due to irregular menstrual cycle or premature ovarian failure. Chromosome abnormalities were found in 62 (24.4 %) women, 14 women had various gene mutations. The most common abnormality was X chromosome mosaicism.
Conclusions. The recognition of risk factors is the first step in the search of genetic causes of female infertility, followed by genetic counselling and diagnostic procedures.
Downloads
References
Geršak K. Genetska diagnostika neplodnosti. In: Vrtačnik-Bokal E,
Jančar N, eds. Sodobne oblike zdravljenja neplodnosti. Zbornik.
spominski sestanek akad. prof. dr. Lidije Andolšek-Jeras; 2007
nov 30; Ljubljana. Ljubljana: Slovensko društvo za reproduktivno
medicino; 2007. p. 33–8.
Geršak K, Veble A. X chromosome abnormalities in women
with premature ovarian failure or recurrent abortion. In: MedenVrtovec
H, ed. 3rd International Symposium on Assisted Reproduction.
Proceedings. Ljubljana: Slovensko društvo za reproduktivno
medicino; 2003. p. 82–4.
Wong MS, Lam ST. Cytogenetic analysis of patients with primary
and secondary amenorrhoea in HongKong: retrospective study.
Hong Kong Med J 2005; 11: 267–72.
Simpson JL, Golbus MS. Spectrum of autosomal chromosome
abnormalities. In: Simpson JL, Golbus MS, eds. Genetics in Obstetrics
&Gynecology. Philadelphia: Saunders; 1992. p. 61–78.
Morel F, Gallon F, Amice V, Le Bris MJ, Le Martelot MT, Roche S,
et al. Sex chromosome mosaicism in couples undergoing intracytoplasmic
sperm injection. Hum Reprod 2002; 17: 2552–5.
Devi A, Benn PA. X-Chromosome abnormatities in women with
premature ovarian failure. J Reprod Med 1999; 44: 321–34.
Goswami D, Conway GS. Premature ovarian failure. Hum Reprod
Update 2005; 11: 391–410.
Gersak K, Meden Vrtovec H, Peterlin B. Fragile X premutation in
women with sporadic premature ovarian failure in Slovenia. Hum
Reprod 2003; 18: 1637–40.
The Author transfers to the Publisher (Zdravniški vestnik/Slovenian Medical Journal) all economic copyrights following form Article 22 of the Slovene Copyright and Related Rights Act (ZASP), including the right of reproduction, the right of distribution, the rental right, the right of public performance, the right of public transmission, the right of public communication by means of phonograms and videograms, the right of public presentation, the right of broadcasting, the right of rebroadcasting, the right of secondary broadcasting, the right of communication to the public, the right of transformation, the right of audiovisual adaptation and all other rights of the author according to ZASP.
The aforementioned rights are transferred non-exclusively, for an unlimited number of editions, for the term of the statutory
The Author can make use of his work himself or transfer subjective rights to others only after 3 months from date of first publishing in the journal Zdravniški vestnik/Slovenian Medical Journal.
The Publisher (Zdravniški vestnik/Slovenian Medical Journal) has the right to transfer the rights, acquired parties without explicit consent of the Author.
The Author consents that the Article be published under the Creative Commons BY-NC 4.0 (attribution-non-commercial) or comparable licence.
