Questions and Answers
What is the defining clinical triad of Turner syndrome?
Who first described the common physical features seen in Turner syndrome?
What is the approximate prevalence of Turner syndrome in live female births?
What percentage of females with Turner syndrome display structural aberrations of the X chromosome?
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Which of the following statements about monosomy of the X chromosome is true?
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What is the estimated number of girls and women affected by Turner syndrome in the United States?
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What is one of the key reasons for the high rate of conceptus loss in Turner syndrome?
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How are the women affected by Turner syndrome genetically categorized?
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What percentage of Turner syndrome cases are estimated to be chromosomally normal (mosaic)?
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Which statement best describes Turner syndrome in terms of ethnic predisposition?
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Which disorder has been associated with a higher risk in patients with Turner Syndrome?
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What is the chromosomal structure of a zygote resulting from a Turner Syndrome conception?
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What genetic feature is primarily affected in Turner Syndrome, leading to its clinical manifestations?
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What type of chromosomal error is most commonly associated with Turner Syndrome?
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Which of the following is NOT a recognized variant of Turner Syndrome?
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What implication does Turner Syndrome have on health care systems?
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Which factor contributes to the clinical features of Turner Syndrome?
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Which laboratory test is crucial for diagnosing Turner Syndrome?
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Which of these diseases is NOT typically associated with an increased risk due to Turner Syndrome?
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What primarily defines the impact of Turner Syndrome on life expectancy?
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What percentage of Turner syndrome individuals experience primary amenorrhea with delayed puberty?
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Which of the following features is NOT commonly associated with Turner syndrome?
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What is the mean predicted height for women with Turner syndrome without treatment?
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What percentage of adults with Turner syndrome is reported to have hypertension?
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Which condition has the highest prevalence among individuals with Turner syndrome, as per the given features?
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Individuals with Turner syndrome are at an increased risk for which of the following major complications that can impact life expectancy?
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What characteristic facial feature is often seen in individuals with Turner syndrome?
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Which feature is commonly used to suggest chromosome testing for individuals with Turner syndrome?
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What is the percentage of girls with Turner syndrome experiencing coarctation of the aorta?
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What percentage of adult women with Turner syndrome exhibit infertility?
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Study Notes
Turner Syndrome Overview
- Turner syndrome (TS) results from complete or partial monosomy of the X chromosome in females.
- Key clinical features include short stature, impaired sexual development, and infertility.
- First described by Dr. Henry Turner in 1938, but the chromosomal abnormality was identified in 1959.
Prevalence and Demographics
- Monosomy of the X chromosome is common in embryos, with a 99% miscarriage rate in the first trimester.
- TS occurs in approximately 1 in 2,000 to 3,000 live female births.
- There are around 60,000 affected individuals in the U.S., with 800 new cases diagnosed annually.
- No established racial or ethnic predispositions; TS occurs exclusively in females.
Genetic and Health Implications
- About 50% of women with TS lack an entire X chromosome; 30% show structural defects, while 20% are mosaics.
- Increased risk for diabetes, neuroblastoma, hypertension, dyslipidemia, impacting life expectancy.
- Lifelong medical care is needed, placing a burden on the healthcare system.
Pathophysiology
- Most TS cases result from paternal meiotic errors, typically inheriting a maternal X chromosome.
- Many features of TS are attributed to the loss of the SHOX gene located on the X chromosome.
- Ovarian changes in TS represent accelerated aging compared to normal.
Diagnosis
- Diagnosis confirmed via cytogenetic analysis revealing a 45,X karyotype or its variants.
- Common clinical manifestations:
- Average height for TS women is approximately 4'9".
- Primary amenorrhea in about 80% of cases; secondary amenorrhea in 20%.
- Renal abnormalities in 60% (e.g., horseshoe kidney).
- Short fourth metacarpal bones in 50%, webbed neck in 40%.
- Hypertension in 40% of adults and 20% of girls.
- Presence of bicuspid aortic valve (33%) and aortic coarctation (15%).
- Additional features include high-arched palate, widely spaced nipples, and characteristic facial abnormalities.
Clinical Management and Complications
- Absence of menarche often prompts medical consultation.
- Chromosomal tests recommended for girls with unexplained short stature, webbed neck, or delayed puberty.
- Life expectancy in TS is estimated to be reduced by about 10 years due to major complications.
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Description
This quiz provides an overview of Turner syndrome (TS), including its genetic basis, prevalence, and health implications. Learn about the clinical features, demographic data, and long-term health risks associated with this condition. Test your knowledge on this important topic in women's health.
