Related Experiment Video
Updated: Jun 5, 2026
09:03
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Postnatal screening for Klinefelter syndrome: is there a rationale?
Amy S Herlihy1, Lynn Gillam, Jane L Halliday
1Murdoch Childrens Research Institute, Parkville, Vic., Australia. amy.herlihy@mcri.edu.au
Acta Paediatrica (Oslo, Norway : 1992)
|January 14, 2011
Summary
Early diagnosis of Klinefelter syndrome (KS) is crucial for interventions. Population-based screening may improve detection rates, but more evidence is needed on age at diagnosis and adult outcomes.
Area of Science:
- Genetics
- Endocrinology
- Men's Health
Background:
- Klinefelter syndrome (KS) diagnosis is often delayed due to low awareness, varied symptoms, and patient hesitancy.
- Timely diagnosis enables beneficial interventions throughout a patient's life.
- Population-based genetic screening offers a strategy for early and comprehensive KS detection.
Purpose of the Study:
- To review the existing evidence on the risks and benefits of diagnosing Klinefelter syndrome at various life stages.
- To highlight the need for further research into the impact of diagnostic timing on long-term outcomes.
Main Methods:
- Systematic review of current literature on Klinefelter syndrome diagnosis.
- Analysis of risks and benefits associated with different ages of KS diagnosis.
- Evaluation of population-based screening as an early detection method.
Main Results:
- Most Klinefelter syndrome cases remain undiagnosed, indicating significant barriers to timely detection.
- Variable clinical presentation and low health professional awareness contribute to diagnostic challenges.
- Evidence regarding the influence of age at diagnosis on adult outcomes is limited.
Conclusions:
- Further research is required to understand how age at diagnosis impacts adult outcomes in Klinefelter syndrome.
- A pilot screening program is necessary to gather evidence on age-related outcomes.
- Improving awareness and screening strategies are key to earlier KS detection.
Related Concept Videos
02:45The Ratio of X Chromosome to Autosomes
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 Drosophila...
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female Drosophila...
01:17Karyotyping
Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
01:23Infertility in Males
Male infertility affects millions of couples worldwide, arising from various factors that impact different stages of the reproductive process. An endocrine imbalance resulting from conditions like hypogonadism, Klinefelter syndrome, or pituitary disorders can disrupt hormone levels and reduce sperm production. Testicular defects, such as tumors, cryptorchidism, atrophic testes, abnormal sperm morphology, and low sperm count or motility, may arise due to genetic factors, structural...
02:19The Y Chromosome Determines Maleness
The Y chromosome is a sex chromosome found in several vertebrates and mammals, including humans. In addition to 22 pairs of autosomes, the human males have one X chromosome and one Y chromosome. In these organisms, the presence or absence of the Y chromosome determines the development of male traits.
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size. Today,...
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size. Today,...
01:21Nondisjunction
Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers. Nondisjunction is common during anaphase I or anaphase II of meiosis. Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold sister...
01:20Disorders of the Male Reproductive System
Men's health issues are increasingly recognized as significant, with several conditions posing common threats. Among these, testicular cancer is especially prevalent in younger men, particularly those aged 20 to 35 years. The disease often manifests as a painless mass in the testicles, sometimes accompanied by a sensation of heaviness or a dull ache.
Prostate disorders are another major concern. These conditions can impair urinary flow due to the prostate's location around the urethra. Symptoms...
Prostate disorders are another major concern. These conditions can impair urinary flow due to the prostate's location around the urethra. Symptoms...