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Related Concept Videos

Oogenesis02:07

Oogenesis

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In human women, oogenesis produces one mature egg cell or ovum for every precursor cell that enters meiosis. This process differs in two unique ways from the equivalent procedure of spermatogenesis in males. First, meiotic divisions during oogenesis are asymmetric, meaning that a large oocyte (containing most of the cytoplasm) and minor polar body are produced as a result of meiosis I, and again following meiosis II. Since only oocytes will go on to form embryos if fertilized, this unequal...
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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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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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Nondisjunction01:29

Nondisjunction

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During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
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Genetic Variation01:25

Genetic Variation

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Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
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Fertility Preservation in Patients with Severe Ovarian Dysfunction
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Shared genetics between nonobstructive azoospermia and primary ovarian insufficiency.

Lauren Verrilli1, Erica Johnstone1, Kristina Allen-Brady2

  • 1University of Utah School of Medicine, Department of Obstetrics and Gynecology, 30 N 1900 E #2B200, Salt Lake City, UT 84132.

F&S Reviews
|September 30, 2022
PubMed
Summary

Genetic mutations in meiosis I genes can cause both primary ovarian insufficiency (POI) and non-obstructive azoospermia (NOA). This finding suggests shared causes for gametogenesis failure in males and females, aiding in risk identification.

Keywords:
Primary ovarian insufficiencygametogenesismeiosisnonobstructive azoospermiaovarian failure

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Area of Science:

  • Genetics
  • Reproductive Biology
  • Human Physiology

Background:

  • Primary ovarian insufficiency (POI) and non-obstructive azoospermia (NOA) are characterized by early gametogenesis failure.
  • Oogenesis and spermatogenesis share conserved meiotic steps, suggesting potential shared genetic underpinnings.

Purpose of the Study:

  • To systematically review genetic mutations implicated in both POI and NOA phenotypes.
  • To explore the shared genetic causes of gametogenesis failure in males and females.

Main Methods:

  • A comprehensive PubMed literature review was performed from January 2000 to October 2020.
  • Studies included human cases of POI or NOA linked to specific genetic mutations.

Main Results:

  • 33 papers identified 10 genes associated with both NOA and POI.
  • All identified genes play crucial roles in meiosis I processes.

Conclusions:

  • Mutations in meiosis I genes are potential causes for both POI and NOA.
  • Shared genotypes for these distinct phenotypes suggest early gametogenesis errors.
  • Identifying these links aids in recognizing individuals at risk for gonadal failure and informs clinical genetic counseling.