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.

Partial Monosomy 4p and Trisomy 12q due to a t(4;12)(p16.3;q24.31) Familial Translocation in Two Cousins.

Wolf-Hirschhorn syndrome (WHS) is caused by a distal 4p monosomy usually involving the region of the and genes. About 40-45% of WHS patients show an unbalanced translocation leading to both 4p monosomy and partial trisomy of another chromosome arm. In this case report, we describe 2 female cousins (P1 and P2) with a derivative chromosome leading to a 4p16.

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.