Turner syndrome

Definition

Turner syndrome is a chromosomal condition that affects females, resulting from the complete or partial absence of one of the X chromosomes. This genetic disorder leads to a variety of medical and developmental challenges, including short stature, delayed puberty, and infertility, highlighting its connection to the chromosomal basis of inherited disorders and how genetic anomalies can lead to specific phenotypic outcomes.

5 Must Know Facts For Your Next Test

1. Turner syndrome affects about 1 in 2,500 female births worldwide.
2. Individuals with Turner syndrome often experience short stature due to growth hormone deficiencies.
3. Common physical features include a webbed neck, low hairline, and broad chest.
4. Many females with Turner syndrome have heart defects, particularly coarctation of the aorta.
5. Hormone therapy is often used to induce puberty and promote secondary sexual characteristics in individuals with Turner syndrome.

Review Questions

• What are the main genetic factors contributing to Turner syndrome, and how do they affect the individual?
  • Turner syndrome is primarily caused by the complete or partial absence of one of the two X chromosomes in females, leading to a condition known as monosomy. This genetic anomaly disrupts normal development and can result in various physical and health-related issues. Individuals may experience growth delays, cardiac problems, and reproductive challenges due to the absence of necessary genetic information typically provided by two functional X chromosomes.
• Discuss the implications of Turner syndrome on an individual's growth and development throughout their life.
  • Turner syndrome significantly impacts growth and development, often resulting in short stature due to deficiencies in growth hormones. As these individuals progress through childhood into adolescence, they may encounter delays in puberty and develop secondary sexual characteristics more slowly than their peers. Additionally, there are increased risks for other health issues such as osteoporosis later in life due to hormonal imbalances. Addressing these developmental challenges through medical interventions can greatly improve quality of life.
• Evaluate the psychological and social effects of Turner syndrome on affected individuals as they transition into adulthood.
  • The psychological and social effects of Turner syndrome can be profound as individuals transition into adulthood. Many may experience feelings of isolation or low self-esteem due to physical differences and fertility challenges, which can impact relationships and career choices. It's essential for support systems—both medical and emotional—to be in place to help these individuals navigate societal expectations while also fostering a strong sense of identity and self-acceptance. Counseling and community support can significantly aid in addressing these emotional challenges.

Related terms

X chromosome: One of the two sex chromosomes in humans, with females having two X chromosomes and males having one X and one Y chromosome.

Monosomy: A condition where there is a missing chromosome from a pair, such as the absence of one X chromosome in Turner syndrome.

Karyotype:

The number and appearance of chromosomes in the nucleus of a eukaryotic cell, used to diagnose chromosomal abnormalities like Turner syndrome.