BCORL1, POF1B, and USP9X copy number variation in women with idiopathic diminished ovarian reserve.

Purpose: To analyze the copy number variation (CNV) in the X-linked genes BCORL1, POF1B, and USP9X in idiopathic diminished ovarian reserve (DOR).

Methods: This case-control study included 47 women, 26 with DOR and 21 in the control group. Age, weight, height, BMI, and FSH level were evaluated, as well as antral follicle count (AFC), oocyte retrieval after controlled ovarian stimulation, and metaphase II (MII) oocytes.

Genetics and epigenetics of varicocele pathophysiology: an overview.

Varicocele is found in approximately 20% of adults and adolescents and in 19-41% of men seeking treatment for infertility. It is associated with a decrease in sperm count as well as sperm motility and morphology. The currently accepted description of the pathophysiology of varicocele does not explain all its clinical manifestations; therefore, other factors such as genetic and epigenetic changes, associated with the environment, might be involved in causing infertility and decrease in sperm quality.

Erratum to: Familial chromosomal translocation X; 22 associated with infertility and recurrent X mosaicism.

[This corrects the article DOI: 10.1186/s13039-016-0249-5.].

Familial chromosomal translocation X; 22 associated with infertility and recurrent X mosaicism.

Background: Individuals with apparently balanced translocations, often, show no clinical findings. However, in meiosis, translocations tend to cause errors on chromosome disjunction and the ones involving sex chromosomes have particular implications for the phenotype. Male carriers of balanced X-autosome translocations are almost invariably infertile due to interruption of the spermatogenesis, but the mechanism is not fully understood.