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Klinefelter syndrome: how, what, and why?
1Division of Urology, Brown University and Rhode Island Hospital, Providence, Rhode Island 02905, USA. Mark_Sigman@Brown.edu
Fertility and Sterility
|June 26, 2012
Summary
Klinefelter syndrome affects male infertility, with ongoing debates on spermatogenesis and patient management. This review covers current knowledge and uncertainties, exploring various treatment strategies for affected individuals.
Area of Science:
- Reproductive Endocrinology
- Andrology
- Genetics
Background:
- Klinefelter syndrome is a frequent cause of male infertility.
- Sperm retrieval and intracytoplasmic sperm injection (ICSI) offer treatment options.
- Significant controversies persist regarding the syndrome's mechanisms and natural history.
Purpose of the Study:
- To provide a comprehensive review of Klinefelter syndrome.
- To highlight current understanding and knowledge gaps.
- To discuss diverse management approaches for patients.
Main Methods:
- Literature review of existing studies on Klinefelter syndrome.
- Analysis of current research on spermatogenesis in Klinefelter syndrome.
- Synthesis of information on patient management strategies.
Main Results:
- The review consolidates current knowledge on Klinefelter syndrome.
- Identifies areas of ongoing scientific debate and research needs.
- Presents a spectrum of clinical management options.
Conclusions:
- Klinefelter syndrome management requires a nuanced approach.
- Further research is needed to clarify spermatogenesis and long-term outcomes.
- Optimizing patient care involves addressing both knowns and unknowns.
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Among mammals, the gender of an organism is determined by the sex chromosomes. Humans have two sex chromosomes, X and Y. Every human diploid cell has 22 pairs of autosomes and one pair of sex chromosomes. A human female has two X chromosomes, while a male has one X chromosome and one Y chromosome.
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...
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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,...
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During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.

