Genetics of Premature Ovarian Insufficiency.

Premature ovarian insufficiency (POI) due to early depletion of ovarian follicles leads to primary amenorrhea or premature menopause. The causes can be genetic or secondary to infection, metabolic disease, autoimmune disorders, radiation, chemotherapy or physical damage to the ovary. Here in this paper we discuss the genetic causes of POI. The causes could be chromosomal disorders such as Turner syndrome (45, X) or structural X chromosomal abnormalities such as deletions/duplications/ring chromosome/X:autosome translocations. The causes could be single gene disorders with various inheritance patterns being possible such as autosomal dominant, autosomal recessive, X-linked dominant or X linked recessive We describe a panel of 157 genes which can be analysed on next generation sequencing panel and FMR1 gene which can be analysed on triple primer polymerase chain reaction method. [ABSTRACT FROM AUTHOR]