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Related Concept Videos

Infertility in Males01:23

Infertility in Males

433
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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In Vitro Fertilization01:24

In Vitro Fertilization

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In vitro fertilization (IVF) is a form of assisted reproductive technology where an egg is fertilized with sperm in a controlled laboratory environment before transferring the resulting embryo into the uterus. This process is designed to help individuals and couples experiencing difficulties conceiving.
The IVF process begins with ovarian stimulation, during which reproductive endocrinologists prescribe hormonal medications to stimulate the ovaries to produce multiple eggs instead of the single...
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Infertility in Females01:28

Infertility in Females

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Female infertility is defined as the inability to conceive after a year of regular, unprotected intercourse and affects about 10–15% of couples worldwide. The primary cause of female infertility is ovulatory disorders, which hinder the release of eggs. These disorders can be classified as hypothalamic amenorrhea, polycystic ovarian syndrome (PCOS), premature ovarian failure, and hyperprolactinemic anovulation disorders.
Endometriosis, a condition characterized by abnormal growth of...
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Meiosis II01:57

Meiosis II

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Meiosis II is the second and final stage of meiosis. It relies on the haploid cells produced during meiosis I, each of which contain only 23 chromosomes—one from each homologous initial pair. Importantly, each chromosome in these cells is composed of two joined copies, and when these cells enter meiosis II, the goal is to separate such sister chromatids using the same microtubule-based network employed in other division processes. The result of meiosis II is two haploid cells, each...
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Related Experiment Video

Updated: Nov 29, 2025

Medium-throughput Screening Assays for Assessment of Effects on Ca2+-Signaling and Acrosome Reaction in Human Sperm
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First Infertile Case with CSTF2TGene Mutation.

Ozlem Gorukmez1, Orhan Gorukmez1

  • 1Department of Medical Genetics, Bursa Yüksek İhtisas Training and Research Hospital, Bursa, Turkey.

Molecular Syndromology
|November 23, 2020
PubMed
Summary

Genetic mutations in the CSTF2T gene are linked to male infertility. This study identifies the first infertile patient with a homozygous CSTF2T mutation, highlighting its role in male reproductive health.

Area of Science:

  • Genetics
  • Reproductive Biology
  • Human Molecular Genetics

Background:

Keywords:
CSTF2TClinical exome sequencingInfertilityNovel mutation

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  • Male infertility is a complex condition with diverse causes, including genetic factors accounting for up to 15% of cases.
  • The Cstf2t gene has been shown to cause infertility in male mice, but its role in human male infertility was previously undescribed.
  • No disease-associated mutations in CSTF2T had been reported in infertile men prior to this study.