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Related Concept Videos

Infertility in Males01:23

Infertility in Males

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Male infertility affects millions of couples worldwide, arising from various factors that impact different stages of the reproductive process. An endocrine imbalance resulting from conditions like hypogonadism, Klinefelter syndrome, or pituitary disorders can disrupt hormone levels and reduce sperm production. Testicular defects, such as tumors, cryptorchidism, atrophic testes, abnormal sperm morphology, and low sperm count or motility, may arise due to genetic factors, structural...
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Spermatogenesis is the process by which haploid sperm cells are produced in the male testes. It starts with stem cells located close to the outer rim of seminiferous tubules. These spermatogonial stem cells divide asymmetrically to give rise to additional stem cells (meaning that these structures “self-renew”), as well as sperm progenitors, called spermatocytes. Importantly, this method of asymmetric mitotic division maintains a population of spermatogonial stem cells in the male...
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Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...
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The Y chromosome is a sex chromosome found in several vertebrates and mammals, including humans. In addition to 22 pairs of autosomes, the human males have one X chromosome and one Y chromosome. In these organisms, the presence or absence of the Y chromosome determines the development of male traits.
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During fertilization, an egg and sperm cell fuse to create a new diploid structure. In humans, the process occurs once the egg has been released from the ovary, and travels into the fallopian tubes. The process requires several key steps: 1) sperm present in the genital tract must locate the egg; 2) once there, sperm need to release enzymes to help them burrow through the protective zona pellucida of the egg; and 3) the membranes of a single sperm cell and egg must fuse, with the sperm...
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Related Experiment Video

Updated: Mar 11, 2026

Medium-throughput Screening Assays for Assessment of Effects on Ca2+-Signaling and Acrosome Reaction in Human Sperm
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Loss-of-Function SSFA2 Variants Disrupt Fertility Through Impaired Acrosome Formation and Sperm Function.

Xinyue Chen1, Xueguang Zhang1, Yan Zheng2

  • 1Department of Obstetrics and Gynecology, Joint Laboratory of Reproductive Medicine (SCU-CUHK), Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, China.

Andrology
|March 9, 2026
PubMed
Summary

Loss-of-function variants in SSFA2 disrupt male fertility by impairing sperm formation and function. This genetic cause of male infertility affects fertilization and early embryonic development, impacting couples globally.

Keywords:
SSFA2acrosome formationcalcium signalingmale infertilityspermatogenesis

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Area of Science:

  • Reproductive Biology
  • Human Genetics
  • Molecular Endocrinology

Background:

  • Male infertility affects millions globally, with genetic factors often unidentified.
  • The gene SSFA2's role in male fertility is not well understood.

Purpose of the Study:

  • To investigate the impact of loss-of-function variants in SSFA2 on male fertility.
  • To elucidate the molecular mechanisms underlying SSFA2-related male infertility.

Main Methods:

  • Clinical analysis of infertile men with compound heterozygous SSFA2 mutations.
  • Functional studies using germ cell-specific SSFA2 knockout mouse models.

Main Results:

  • SSFA2 deficiency impairs acrosome formation, sperm head morphology, and calcium signaling.
  • Mutant sperm show altered mitochondrial distribution and reduced CatSper channel function, leading to fertilization failure.
  • Intracytoplasmic sperm injection (ICSI) partially rescues fertilization, but early embryonic development is compromised.

Conclusions:

  • SSFA2 is essential for acrosomal biogenesis and proper sperm function.
  • SSFA2 variants represent a novel genetic cause of male infertility.
  • Findings offer insights into male infertility genetics and potential clinical strategies.