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

Abstract

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.

Primary ovarian insufficiency associated with autosomal abnormalities: from chromosome to genome-wide and beyond

“…5 From our previously reviewed literature from a multinational case series, we found that only 2% of POI cases are associated with autosomal chromosome rearrangement. 1 To the best of our knowledge, only 25 out of 1,361 POI cases with autosomal anomalies have been reported (Table 1). These chromosome rearrangements include 10 Robertsonian translocations, 10 reciprocal translocations, and 5 chromosome inversions.…”

“…1 This condition affects 1 in 10,000 women by the age of 20 years and 1 in 100 by the age of 40 years. 2 The etiologies of POI are pelvic radiation, pelvic surgery, autoimmunity, infection, genetic aberration, and chromosomal abnormalities.…”

“…3 Albeit not fully elucidated, there are three possible mechanisms of POI, which are as follows: congenital decrease in primordial follicles; ovarian follicle dysfunction; and accelerated depletion of primordial follicles. 1 During the past decade, robust information according to genetic mechanism underlying POI has been published. 4 Genetic disorders related to POI vary from gene aberration to structural chromosome rearrangement.…”

“…Some genes are located on the X chromosome such as USP9X, ZFX, BMP15, SHOX, XIST, POF1B, DIAPH2, XPNPEP2, and FMR1, whereas the majority of the genes are located on autosomes throughout genomes such as BAX, BCL2, CDKN1B, CYP19A1, ESR1, FOXL2, CASP2, and CASP3. 1 In this review we define autosomal abnormalities as any genetic aberration occurring on autosomes including structural chromosome rearrangement, gene aberration, epistasis between genes on autosomes, genome-wide association studies, and associated epigenetics analysis.…”