Premature Ovarian Failure (POF): Cytogenetic and SRY analyses.

ABSTRACT

Premature ovarian failure (POF) is a condition causing amenorrhea, hypoestrogenism and elevated gonadotropins and can be found in 1% of women before the age of 40. There are many causes of POF. One of these is a chromosome abnormality especially of the sex chromosome, the most common of which is 45,X. Translocation between regions on the X and Y chromosome and X chromosome deletions have also been reported. The objectives of this study were to perform chromosome analysis and to look for the SRY gene in the patient with POF. 25 patients with POF attending the Gynecologic Endocrinology Clinic at the Department of Obstetrics and Gynecology, Faculty of Medicine Siriraj Hospital, were included in this study. Peripheral blood was collected from the patients for cytogenetic and SRY analyses. There were 4 patients (16%) with identifiable abnormal X chromosomes, which were 45,X/46,XX ; 46,X,i(Xq) ; 46,XX/47XXX and 47,XXX. All patients were SRY negative. POF may be caused by other causes such as auto-immunity, mumps oophoritis etc. Interestingly, this study revealed much higher chromosome abnormalities rate among Thais with POF than has been previously reported elsewhere although those chromosome anomalies are very similar. Chromosome study should be routinely performed as a part of basic laboratory evaluation for all patients with POF. The information obtained will be useful for genetic counseling, planning patient management and family members' decisions in the future.