Pericentric inversion of chromosome 2 in a patient with the empty follicle syndrome: case report.
The empty follicle syndrome (EFS) is defined as a lack of retrieved oocytes from follicles, at the time of repeated aspiration and flushing, following ovulation induction. The actual mechanism responsible for the EFS is still unknown. The aim of this study was to offer more information regarding the possible connection of this syndrome with pericentric inversion of chromosome 2. We give a case report of a patient who had multiple failed IVF attempts, due to the absence of oocyte and granulosa cells in the follicular fluid, following oocyte retrieval in both stimulated and natural cycles. Chromosomal analysis showed the presence of a pericentric inversion of chromosome 2: 46,XX,inv(2)(p11q21) in the female partner karyotype, while the male partner had a normal karyotype. Our case showed possible genetic factor influence in the aetiology of EFS.
Vujisic
Sanja
S
Clinical Laboratory for Human Reproduction, Department of Obstetrics and Gynaecology Medical School, University of Zagreb, Sveti Duh Hospital, Croatia. sanja_vujisic@hotmail.com
Stipoljev
Feodora
F
Bauman
Renato
R
Dmitrovic
Romana
R
Jezek
Davor
D
D000328:Adult; D002869:Chromosome Aberrations; D002889:Chromosomes, Human, Pair 2; D005260:Female; D005307:Fertilization in Vitro; D006801:Humans; D007247:Infertility, Female / Q000235:genetics* / Q000628:therapy; D007621:Karyotyping; D010049:Ovarian Diseases / Q000235:genetics* / Q000628:therapy; D006080:Ovarian Follicle