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What Genetic Disorders Affect Only Females?

Published in Female Genetics 2 mins read

Certain genetic disorders are exclusive to females due to their unique chromosomal makeup. One prominent example, as highlighted in the provided reference, is Turner syndrome.

Understanding Turner Syndrome

Chromosomal Basis

  • Females typically have two X chromosomes (XX).
  • In Turner syndrome, a female has only one normal X chromosome instead of two. This abnormality affects development.
  • This condition is not inherited but is rather a result of a random error during cell division.

Prevalence

  • Turner syndrome affects approximately 1 in every 2,000 baby girls, according to the provided reference.

Characteristics and Impact

  • Physical Features: Girls with Turner syndrome may have a short stature, a webbed neck, a low hairline at the back of the neck, and swollen hands and feet.
  • Reproductive Issues: They often experience ovarian insufficiency, leading to difficulties with fertility and the onset of puberty.
  • Other Health Problems: They are also at a higher risk for heart defects, kidney problems, and thyroid issues.

Diagnosis and Management

  • Diagnosis: Turner syndrome can be diagnosed through chromosomal analysis, either prenatally or postnatally.
  • Management: While there's no cure for Turner syndrome, treatments focus on managing symptoms and improving quality of life. These include:
    • Growth Hormone: Used to increase height in childhood.
    • Estrogen Replacement Therapy: Initiates puberty and maintains secondary sexual characteristics.
    • Regular Medical Checkups: Monitor for heart and kidney problems and other potential complications.

Other Considerations

While the reference specifically mentions Turner syndrome, it's important to note that other sex-linked conditions can present differently or more severely in females, though they might not be exclusive to females. For instance:

  • X-Linked Recessive Disorders: Females are often carriers of these, but might show symptoms if they have two affected X chromosomes.
Genetic Disorder Who is Affected Chromosomes Affected
Turner Syndrome Females Only X
X-Linked Recessive Both, severity in males X

This table illustrates the exclusivity of Turner syndrome when compared to other conditions.

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