Identification of genetic cause of empty follicle syndrome by GeneFeminaTM not only provided root cause information but also valuable information for clinical management and corresponding treatment.
Smitha and Raju, married for 6 years with primary infertility, had unsuccessful infertility treatment for 3yrs. Smitha had a poor ovarian reserve. Ovarian induction and retrieval of oocytes always resulted in Empty Follicles. The term Empty follicle syndrome (EFS) is used to describe a condition where oocyte induction and retrieval fails to recover mature-sized ovarian follicles. The failure could be because of human, procedural or pharmaceutical error. On the other hand, it could be “genuine”, that is biological, due to defective oocyte structure, function, development and maturity. EFS caused substantial stress and anxiety for both the patient and physician during ART cycles. Raju’s semen analysis was normal and couple’s karyotypes were also normal. A Bangalore based fertility center sent GeneFeminaTM sample of Smitha to GeneTech for testing. Genomic Fertility Analysis by GeneFeminaTM showed a genotype in LHCGR gene which is related to Genuine Empty Follicle Syndrome and a condition called LH resistance. Continued ovarian induction and retrieval may not yield oocytes, even if different COH protocols are used. An early treatment of donor oocyte cycle may be an alternative option for the women with this genotype. Genetic counseling was provided to couple and results were explained. After a month, the partners decided to go ahead with ICSI using donor egg and conceived successfully.
