δείτε την πρωτότυπη σελίδα τεκμηρίου στον ιστότοπο του αποθετηρίου του φορέα για περισσότερες πληροφορίες και για να δείτε όλα τα ψηφιακά αρχεία του τεκμηρίου*
Genetics of polycystic ovary syndrome: searching for the way out of the
labyrinth
Polycystic ovary syndrome (PCOS) is a complex and heterogeneous disorder
presenting a challenge for clinical investigators. It is the most common
endocrine disorder of women in reproductive age, a multifaceted
reproductive, cosmetic and metabolic problem, with an enigmatic
pathophysiological and molecular basis. Although the familial
segregation has been noticed very early in the description of the
syndrome and family studies in first-degree relatives of women diagnosed
with PCOS reveal clustering of the disease, the genetic studies have not
as yet determine the pattern of heredity. Part of the problem in genetic
studies has been the lack of uniform criteria for diagnosis,
heterogeneity of phenotypic features and the fact that the disorder is
only expressed clinically in women during their reproductive years. Even
within affected families and between sisters with polycystic ovaries,
there is heterogeneity in presentation. However, regardless of
diagnostic criteria used to identify profanes and to determine affected
status in the kindred, the foundation of genetic studies suggests a
strong familial component. Currently, PCOS is considered a polygenic
trait that might result from the interaction of susceptible and
protective genomic variants under the influence of environmental
factors, whose role is under intensive investigation. Candidate genes
cover a broad spectrum of an endless list of molecules which participate
on every step of reproductive and metabolic pathways of this syndrome.
Focused research in identification of these genes may provide valuable
information and shed some light on the way out of the genomic labyrinth,
elucidating the underlying pathophysiology and aiming at a more
efficient therapeutic approach of this complicated endocrine disorder.
(EN)
*Η εύρυθμη και αδιάλειπτη λειτουργία των διαδικτυακών διευθύνσεων των συλλογών (ψηφιακό αρχείο, καρτέλα τεκμηρίου στο αποθετήριο) είναι αποκλειστική ευθύνη των αντίστοιχων Φορέων περιεχομένου.
Genetics of polycystic ovary syndrome: searching for the way out of the labyrinth
Genetics of polycystic ovary syndrome: searching for the way out of the labyrinth
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