Klinefelter syndrome (KS) is the most common sex chromosome abnormality, which occurs in about one in 660 newly born males, and it is the most common genetic cause of infertility in infertile men, accounting for 11%. It is rare for non-mosaic KS patients to have sperm and reproduce naturally, and there are currently no reports of KS patients with normal motile sperm. Microdissection testicular sperm extraction associated with intracytoplasmic sperm injection (micro-TESE-ICSI) is currently the main assisted reproductive method for patients with KS.
View Article and Find Full Text PDFAndrogen receptor gene (AR) is essential for male growth and fertility. Its mutations are responsible for androgen insensitivity syndrome (AIS) that usually shows the phenotype of azoospermia resulting in male infertility. This study reported the first case of mild AIS with complete normal serum hormones in a Chinese family.
View Article and Find Full Text PDFMultiple morphological abnormalities of the sperm flagella (MMAF) is a characteristic form of severe asthenozoospermia and closely related to male infertility. However, it is not sure whether intracytoplasmic sperm injection (ICSI) allows MMAF patients reproductive success. The present study reported the first case of successful intracytoplasmic sperm injection-embryo transfer (ICSI-ET) in Chinese brothers with a novel compound heterozygous mutation of FSIP2 (fibrous sheath interacting protein 2), a newly identified MMAF-related genes.
View Article and Find Full Text PDFStudy Question: Does lysine 2-hydroxyisobutyrylation, a newly identified protein posttranslational modification (PTM), occur in human sperm and affect human sperm function?
Summary Answer: Lysine 2-hydroxyisobutyrylation mainly occurs in human sperm tail proteins, and excessive lysine 2-hydroxyisobutyrylation affects human sperm motility.
What Is Known Already: PTM is regarded as an important pathway in regulating sperm function since mature sperm are almost transcriptionally silent. However, only phosphorylation was extensively studied in mature sperm to date.
Study Question: Is there a role for lysine glutarylation (Kglu), a newly identified protein post-translational modification (PTM), in human sperm?
Summary Answer: Kglu occurs in several proteins located in the tail of human sperm, and it was reduced in asthenozoospermic (A) men and positively correlated with progressive motility of human sperm, indicating its important role in maintaining sperm motility.
What Is Known Already: Since mature sperm are almost transcriptionally silent, PTM is regarded as an important pathway in regulating sperm function. However, only phosphorylation has been extensively studied in mature sperm to date.
Background/aims: β-Elemene is a bioactive sesquiterpene compound that exhibits a potent anti-tumor effect and is used in various clinical applications. However, little is known about its effect on the male reproductive system. The objective of this study was to investigate the in vitro actions of β-elemene on human sperm function and elucidate the underlying mechanism.
View Article and Find Full Text PDFRosmarinic acid (RA), a natural phenolic ester, is cytoprotective for male reproduction in animal models. The present study investigated the in vitro actions of RA on human sperm functions. Human sperm were exposed to 1, 10, 100, and 1000 μM RA in vitro and sperm functions were examined.
View Article and Find Full Text PDFStudy Question: Is diethylstilbestrol (DES), a prototypical endocrine-disrupting chemical (EDC), able to induce physiological changes in human spermatozoa and affect progesterone actions?
Summary Answer: DES promoted Ca flux into human spermatozoa by activating the cation channel of sperm (CatSper) and suppressed progesterone-induced Ca signaling, tyrosine phosphorylation and sperm functions.
What Is Known Already: DES significantly impairs the male reproductive system both in fetal and postnatal exposure. Although various EDCs affect human spermatozoa in a non-genomic manner, the effect of DES on human spermatozoa remains unknown.
Objective: To investigate the protein expression of human testis development related gene 1 (TDRG1) in human testicular cancer and its pathological significance.
Methods: The expression levels of TDRG1 were detected in the testis tissues of testicular cancer patients and normal men by tissue microarray and immunohistochemistry, and the results were analyzed.
Results: Immunohistochemistry exhibited positive expression of the TDRG1 protein in the testis of 73.