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Related Concept Videos

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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Background and Environment Affect Phenotype02:27

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Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
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The Ratio of X Chromosome to Autosomes02:45

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In most organisms, sex is determined by the ratio of X and Y chromosomes. However, in some organisms, such as Drosophila and C.elegans, sex is determined by the ratio of the number of X chromosomes to the number of sets of autosomes. The Y chromosome in Drosophila is active but does not determine sex. It contains genes responsible for the production of sperms in adult flies.  
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female...
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X-linked Traits01:19

X-linked Traits

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In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
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X and Y Chromosomes02:32

X and Y Chromosomes

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Among mammals, the gender of an organism is determined by the sex chromosomes. Humans have two sex chromosomes, X and Y. Every human diploid cell has 22 pairs of autosomes and one pair of sex chromosomes. A human female has two X chromosomes, while a male has one X chromosome and one Y chromosome.
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...
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Mate Choice01:20

Mate Choice

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Mate choice—the decision about whom to mate with—is a type of natural selection, since animals must reproduce to pass down their genes. Mate choice is also called intersexual selection because the behavior occurs between the sexes.
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Dissection of Larval Zebrafish Gonadal Tissue
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Variations in Sex Characteristics.

Austin Johnson1, Lissa Yu2, Ginny L Ryan1

  • 1Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Washington School of Medicine, Seattle, WA, USA.

Obstetrics and Gynecology Clinics of North America
|November 7, 2024
PubMed
Summary
This summary is machine-generated.

Variations in sex characteristics (VSCs) are diverse conditions affecting chromosomal, gonadal, or anatomic sex. Comprehensive care involves medical evaluation, multidisciplinary teams, and essential psychological support for patients.

Keywords:
Differences of sex developmentDisorders of sex developmentIntersexVariation in sex characteristics

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Area of Science:

  • Endocrinology
  • Genetics
  • Pediatrics

Background:

  • Variations in sex characteristics (VSCs) encompass a spectrum of conditions involving atypical chromosomal, gonadal, or anatomical sex development.
  • These variations can manifest at various life stages, from infancy (e.g., atypical genitalia) to adulthood (e.g., infertility).
  • Identification may occur during evaluations for conditions such as hernias, precocious or delayed puberty, or amenorrhea.

Purpose of the Study:

  • To outline the diagnostic and management principles for individuals with variations in sex characteristics.
  • To emphasize the importance of a structured, multidisciplinary approach to VSC care.
  • To highlight the critical role of psychological and peer support in VSC management.

Main Methods:

  • Systematic review of diagnostic approaches for VSCs.
  • Analysis of current clinical guidelines for VSC management.
  • Integration of findings from genetic, hormonal, and imaging studies.
  • Consideration of psychosocial aspects in patient care.

Main Results:

  • VSC diagnosis requires careful history taking, physical examination, and specialized testing.
  • Multidisciplinary team consultation is crucial for optimal patient outcomes.
  • Psychological support and attention to gender identity development are integral to care.

Conclusions:

  • Effective management of VSCs necessitates a comprehensive, individualized approach.
  • Early identification and intervention can improve long-term health and well-being.
  • Holistic care, including psychosocial support, is essential for patients with VSCs.