Document Detail

Genetic disorders in premature ovarian failure.
MedLine Citation:
PMID:  12398227     Owner:  NLM     Status:  MEDLINE    
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.
T Laml; O Preyer; W Umek; M Hengstschlager; H Hanzal
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Human reproduction update     Volume:  8     ISSN:  1355-4786     ISO Abbreviation:  Hum. Reprod. Update     Publication Date:    2002 Sep-Oct
Date Detail:
Created Date:  2002-10-25     Completed Date:  2003-03-26     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9507614     Medline TA:  Hum Reprod Update     Country:  England    
Other Details:
Languages:  eng     Pagination:  483-91     Citation Subset:  IM    
University of Vienna Medical School, Department of Obstetrics and Gynaecology, Austria.
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MeSH Terms
Chromosome Aberrations
Chromosomes, Human, X
Genetic Diseases, Inborn / complications*,  genetics
Inhibins / genetics
Ovarian Failure, Premature / etiology*,  genetics
Phosphotransferases (Phosphomutases) / genetics
Receptors, FSH / genetics
UTP-Hexose-1-Phosphate Uridylyltransferase / genetics
Reg. No./Substance:
0/Receptors, FSH; 57285-09-3/Inhibins; EC Uridylyltransferase; EC 5.4.2.-/Phosphotransferases (Phosphomutases); EC

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