Primary ovarian insufficiency with t(5;13): a case report and literature review on disrupted genes

Abstract

Autosomal translocations are rare in women with POI. We have reported the first case of a de novo reciprocal translocation involving chromosomes 5 and 13 in a POI patient. As one of the breakpoints encompasses the FOXO1 gene, it seems that disruption of this gene can be the cause of POI in this patient. This provides further evidence on the role of autosomal translocations in disrupting POI-associated genes. Therefore, concentrating on the genes at the breakpoints will be helpful to delineate the new biological pathways or genes involved in POI pathogenesis.

Primary ovarian insufficiency: a glimpse into the racial and socioeconomic disparities found within third-party reproduction

“…Primary ovarian insufficiency was found in 1% of Caucasian, 1.4% of Hispanic, 1.4% of African American, 0.5% of Chinese, and 0.1 % of Japanese women (2). Although most commonly deemed as idiopathic, specific etiologies of spontaneous POI include genetic abnormalities, autoimmune conditions, and infections (1,3). Genetic etiologies of POI are most commonly due to abnormalities involving the X chromosome and rarely are associated with autosomal mutations (3).…”

“…Although most commonly deemed as idiopathic, specific etiologies of spontaneous POI include genetic abnormalities, autoimmune conditions, and infections ( 1 , 3 ). Genetic etiologies of POI are most commonly due to abnormalities involving the X chromosome and rarely are associated with autosomal mutations ( 3 ).…”

“Evaluation of four genes associated with primary ovarian insufficiency in a cohort of Mexican women”

“…POI etiology is not well understood [9], but the condition has been widely reported in association with (1) low initial number of follicles, (2) accelerated follicular atresia, (3) compromised maturation process, or (4) folliculogenesis blockage previous to antral stage and ovulation inhibition [10,11]. Reports have suggested that such mechanisms can be activated by iatrogenic, metabolic, infectious, chromosomal, autoimmune, environmental, or genetic factors [12,13].…”