Genetic Testing in Premature Ovarian Failure

Premature ovarian failure is defined as the lack of ovarian hormones or ovarian follicle reserve. This results in aberrant ovarian activity, which causes early oocyte depletion and the start of menopause. Amenorrhea, a review of the family history going back at least three generations, a pelvic sonogram, and a serum FSH level > 40 mIU/ml are all used to diagnose POF illness. The 2016 guidelines from the European Society of Human Reproduction and Embryology (ESHRE) recommended that amenorrhea be monitored for at least 4 months, increased FSH levels be tested for two consecutive months, and then karyotyping be used for genetic testing. 20–25% of the cases are believed to be genetic. A few genes have been discovered to affect the risk of POF, but 50–90% of the cases remain idiopathic. Since normal ovarian function is a complex process, many genes have yet to be discovered with a role in causing the disease. In this chapter, we have focused on genetic testing in POF cases. Different diagnostic methods, such as karyotyping, candidate gene sequencing, genome-wide association studies, whole genome/exome sequencing, array comparative genomic hybridization, and microarray, have been discussed in this chapter.