Premature ovarian failure with 46,XX,t(1;4)(p34.1;q34): first case report and literature review

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.

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.

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.

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.