alexa Genetic disorders in premature ovarian failure.
Reproductive Medicine

Reproductive Medicine

Reproductive System & Sexual Disorders: Current Research

Author(s): Laml T, Preyer O, Umek W, Hengstschlager M, Hanzal H

Abstract Share this page

Abstract This review presents the genetic disorders associated with premature ovarian failure (POF), obtained by Medline, the Cochrane Library and hand searches of pertinent references of English literature on POF and genetic determinants cited between the year 1966 and February 2002. X monosomy or X deletions and translocations are known to be responsible for POF. Turner's syndrome, as a phenotype associated with complete or partial monosomy X, is linked to ovarian failure. Among heterozygous carriers of the fragile X mutation, POF was noted as an unexpected phenotype in the early 1990s. Autosomal disorders such as mutations of the phosphomannomutase 2 (PMM2) gene, the galactose-1-phosphate uridyltransferase (GALT) gene, the FSH receptor (FSHR) gene, chromosome 3q containing the Blepharophimosis gene and the autoimmune regulator (AIRE) gene, responsible for polyendocrinopathy-candidiasis-ectodermal dystrophy, have been identified in patients with POF. In conclusion, the relationship between genetic disorders and POF is clearly demonstrated in this review. Therefore, in the case of families affected by POF a thorough screening, including cytogenetic analysis, should be performed.
This article was published in Hum Reprod Update and referenced in Reproductive System & Sexual Disorders: Current Research

Relevant Expert PPTs

Relevant Speaker PPTs

Recommended Conferences

  • International Meeting on Women's Health and Breast Cancer
    Oct 12, 2017, Dubai, UAE
  • International Conference on Gynecology and Obstetrics Pathology
    October 23-24, 2017 Orlando, USA
  • 5th International Conference on HIV/AIDS, STDs and STIs
    Nov 13-14, 2017, Las Vegas, Nevada, USA

Relevant Topics

Peer Reviewed Journals
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2017-18
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

© 2008-2017 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version