Abstract
Objectives To describe the first case of premature ovarian failure with a reciprocal translocation between chromosomes 1 and 4 and to review all the related literature.
Methods A 39-year-old multigravida woman with secondary amenorrhea consulted for evaluation. High-resolution chromosomal evaluation, sonographic images of the reproductive organs and assessment of endogenous hormone production were performed.
Results We identified a de novo balanced translocation 46,XX, t(1;4)(p34.1;q34) in our premature ovarian failure patient without other abnormalities of reproductive organs.
Conclusions Most of the cases of premature ovarian failure are associated with the X chromosome. To the best of our knowledge, only 23 cases of autosomal abnormalities associated with premature ovarian failure have been reported and our case was the first with translocation between chromosomes 1 and 4. The cause of late-onset premature ovarian failure in our case might be associated with the caspase-3 gene, which is located on chromosome 4q34 and controls follicle apoptosis.
Conflict of interest The authors report no conflict of interest. The authors alone are responsible for the content and writing of this paper.
Source of funding Nil.