Globozoospermia syndrome is a rare teratozoospermia, with an incidence of less than 0.1%. It is characterized by round sperm head, absence of acrosome, and messy sperm body and tail, but without other special clinical features. The absence of acrosome could reduce the activation ability of oocytes, and consequently decrease their fertilization ability. The assisted reproductive technique remains the only means for such patients to produce offspring. The pathogenesis of globozoospermia syndrome is not yet clear, though it is found to be related with 4 genes in the mouse and 1 on the human autosome. This article gives an overview on the clinical features, pathogenesis and genetics of globozoospermia syndrome, as well as the fertilizability and reproductivity of such patients.
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Golgi pH elevation due to loss of V-ATPase subunit V0a2 function correlates with tissue-specific glycosylation changes and globozoospermia.
Cell Mol Life Sci
December 2024
Institute of Human Genetics, University Medical Center Göttingen, 37073, Göttingen, Germany.
Loss-of-function variants in ATP6V0A2, encoding the trans Golgi V-ATPase subunit V0a2, cause wrinkly skin syndrome (WSS), a connective tissue disorder with glycosylation defects and aberrant cortical neuron migration. We used knock-out (Atp6v0a2) and knock-in (Atp6v0a2) mice harboring the R755Q missense mutation selectively abolishing V0a2-mediated proton transport to investigate the WSS pathomechanism. Homozygous mutants from both strains displayed a reduction of growth, dermis thickness, and elastic fiber formation compatible with WSS.
View Article and Find Full Text PDFPathogenesis of acephalic spermatozoa syndrome caused by PMFBP1 mutation.
Basic Clin Androl
December 2024
Pharmacy Department, Zhuzhou Central Hospital, Zhuzhou Hospital Affiliated to Xiangya School of Medicine, Central South University, Zhuzhou, Hunan, 410120, China.
Background: Acephalic spermatozoa syndrome is a rare but severe type of teratozoospermia. The familial trait of acephalic spermatozoa syndrome suggests that genetic factors play an important role. However, known mutations account for only some acephalic spermatozoa syndrome patients, and more studies are needed to elucidate its pathogenesis.
View Article and Find Full Text PDFAim: The aim of the study was to evaluate the influence of a specific diagnosis of infertile women and men on their life quality and psychosexual functioning based on internationally validated questionnaires.
Materials And Methods: A total of 853 couples seeking treatment for infertility completed the gender-specific batteries comprised of Fertility Quality of Life tool (FertiQoL), Female Sexual Function Index (FSFI) in women, and Brief Sexual Function Inventory (BSFI) in men. Women were followed in the group of primary and secondary infertility and then with specific diagnoses - polycystic ovary syndrome, tubal factor, endometriosis, and idiopathic sterility.
SUN5 interacts with nuclear membrane LaminB1 and cytoskeletal GTPase Septin12 mediating the sperm head-and-tail junction.
Mol Hum Reprod
June 2024
Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China.
Acephalic spermatozoa syndrome (ASS) is a severe teratospermia with decaudated, decapitated, and malformed sperm, resulting in male infertility. Nuclear envelope protein SUN5 localizes to the junction between the sperm head and tail. Mutations in the SUN5 gene have been identified most frequently (33-47%) in ASS cases, and its molecular mechanism of action is yet to be explored.
View Article and Find Full Text PDF[Clinical characteristics and genetic analysis of a patient with Acephalic spermatozoa syndrome due to variant of PMFBP1 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
June 2024
Center for Reproductive Medicine, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Henan Provincial People's Hospital of Henan University, Henan Joint International Research Laboratory for Reproductive Bioengineering, Zhengzhou, Henan 450003, China.
Objective: To analyze the clinical characteristics and genetic basis of a male patient with primary infertility caused by Acephalic spermatozoa syndrome.
Methods: A patient who had presented at the Henan Provincial People's Hospital on October 1, 2022 was selected as the study subject. Clinical data and results of laboratory exams and sperm electron microscopy were collected.
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