Turner Syndrome

Definition

Turner syndrome is a chromosomal disorder that affects females, characterized by the partial or complete absence of one of the two X chromosomes. This condition leads to various developmental and physical features, including short stature, infertility, heart defects, and specific physical traits such as a webbed neck and low-set ears. The implications of Turner syndrome extend to both reproductive health and genetic abnormalities.

5 Must Know Facts For Your Next Test

1. Turner syndrome occurs in about 1 in 2,500 live female births and is often diagnosed through karyotyping.
2. Common features of Turner syndrome include short stature, delayed puberty, and infertility due to ovarian dysgenesis.
3. Girls with Turner syndrome may also experience various health issues, such as heart defects, kidney problems, and hearing loss.
4. The condition can lead to social and psychological challenges due to its physical manifestations and associated health issues.
5. Hormone replacement therapy is commonly used in Turner syndrome patients to help induce puberty and support development of secondary sexual characteristics.

Review Questions

• How does Turner syndrome affect the physical development of individuals diagnosed with the condition?
  • Turner syndrome impacts physical development primarily through its effects on stature and secondary sexual characteristics. Affected individuals typically experience shorter than average height and may not undergo typical pubertal changes due to ovarian dysgenesis. This lack of estrogen production can result in underdeveloped breasts and minimal menstrual activity. Additionally, physical features such as a webbed neck and low-set ears may be present, affecting overall physical appearance.
• Discuss the reproductive implications of Turner syndrome in affected individuals.
  • Individuals with Turner syndrome face significant reproductive challenges due to the underdevelopment of the ovaries, leading to infertility. Most affected women do not have functional ovaries and therefore lack regular menstrual cycles. Although some may have the option of assisted reproductive technologies using donor eggs, others might need hormone replacement therapy to manage symptoms associated with estrogen deficiency. Understanding these reproductive implications is crucial for providing appropriate care and counseling.
• Evaluate the psychosocial impact of living with Turner syndrome and how it influences an individual's quality of life.
  • Living with Turner syndrome can lead to various psychosocial challenges that influence an individual's quality of life. The visible physical characteristics and potential health issues can result in feelings of self-consciousness or social anxiety. Moreover, ongoing medical concerns related to heart health or fertility may contribute to stress. Support groups and counseling can play vital roles in helping those affected cope with these challenges, emphasizing the importance of addressing both medical and emotional needs for improved overall well-being.

Related terms

X Chromosome: One of the two sex chromosomes in humans, females typically have two X chromosomes, while males have one X and one Y chromosome.

Gonadal Dysgenesis: A condition often associated with Turner syndrome where the gonads (ovaries) do not develop properly, leading to underdeveloped sexual characteristics and infertility.

Karyotype: A laboratory technique that involves arranging an individual's chromosomes in a standard format to identify chromosomal abnormalities such as those seen in Turner syndrome.