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Lecture - Premature Ovarian Failure
FML at EOFF 2011 in Dubai
Genetics in Premature Ovarian Failure (POF)
Associate Professor Michaela Jaksch, MD PhD
Freiburg Medical Laboratory ME LLC, Dubai
This lecture shall provide an overview and a literature review on genetics in premature ovarian failure.
POF is defined as a loss of normal function of the ovaries before the age of 40. One to 2% of women younger than 40 and 0.1% of women younger than 30 years of age are affected. Infertility is a common result.
The causes of this complex disorder are still not completely understood and the majority of cases are described as idiopathic (up to 65%). Around 10% are of autoimmune origin, 25% point to autosomal genetic causes and in about 5%, X chromosome abnormalities are observed.
X chromosome abnormalities can be deletions (POF1), translocations (POF2) and numerical abnormalities (e.g.Turner; X0), as well as expansions of DNA repeats in the FMR1 gene (fragile X syndrome).
Candidate gene mutation approaches in genes located on autosomes revealed some causes of POF, for example mutations of the FSH Receptor gene in a few families, as well as mutations in the Inhibin A gene. Other genetic systemic diseases, such as galactosemia, mitochondrial disorders etc. also contribute to POF to a certain extent.
Genome-wide approaches and next generation DNA sequencing are currently performed in order to identify remaining and more common genetic causes.
The complexity of the disorder also provokes questions outside simple monogenic trait research: epigenetics, the interaction of genes with environmental factors.