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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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Nondisjunction01:29

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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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Nondisjunction01:21

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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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Infertility in Females01:28

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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.
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Meiosis I01:49

Meiosis I

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Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by...
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Meiosis I03:09

Meiosis I

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Meiosis is the division of a diploid cell into haploid cells forming sperm and eggs in animals through differentiation. Meiosis I is the first stage of meiosis, where the genetic recombination of homologous chromosomes and the reduction of the ploidy level by half occurs.
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Exploring X Chromosomal Aberrations in Ovarian Cells by Using Fluorescence In Situ Hybridization
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Syndromic infertility.

Giulia Guerri1, Tiziana Maniscalchi, Shila Barati

  • 1MAGI's Lab, Rovereto (TN), Italy. giulia.guerri@assomagi.org.

Acta Bio-Medica : Atenei Parmensis
|October 3, 2019
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Summary
This summary is machine-generated.

Genetic testing identifies causes of syndromic infertility, including hypopituitarism, hypogonadotropic hypogonadism, and primary ciliary dyskinesia, which affect hormone secretion and cilia function impacting fertility.

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Area of Science:

  • Endocrinology
  • Genetics
  • Reproductive Medicine

Background:

  • Syndromic infertility results from genetic mutations causing defects beyond infertility.
  • Key conditions include hypopituitarism, hypogonadotropic hypogonadism, and primary ciliary dyskinesia.
  • These disorders impact hormonal regulation and cilia function, crucial for reproduction.

Purpose of the Study:

  • To describe three genetic disorders associated with syndromic infertility.
  • To highlight the genetic basis and clinical manifestations of these conditions.
  • To emphasize the importance of genetic testing for diagnosis and management.

Main Methods:

  • Genetic testing was performed for the described disorders.
  • Clinical features and hormonal profiles were assessed.
  • Sperm motility and oocyte transport mechanisms were evaluated.

Main Results:

  • Hypopituitarism presents as pan-, partial, or selective hormone deficiencies.
  • Hypogonadotropic hypogonadism involves altered hypothalamic-pituitary-gonadal axis function with low FSH and LH.
  • Primary ciliary dyskinesia impairs sperm motility and can affect female fertility due to oviductal transport issues.

Conclusions:

  • Genetic testing is crucial for diagnosing syndromic infertility causes.
  • Understanding these conditions aids in reproductive counseling and potential therapeutic strategies.
  • These disorders underscore the complex genetic underpinnings of human reproduction.