Klinefelter syndrome
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چکیده
Some males with Klinefelter syndrome have the extra X chromosome only in some of their cells (mosaic Klinefelter syndrome). In addition, 46,XX males also exist and it is caused by translocation of Y material including sex determining region (SRY) to the X chromosome during paternal meiosis. Formal cytogenetic analysis is necessary to make a definite diagnosis, and more obvious differences in physical features tend to be associated with increasing numbers of sex chromosomes. However, Klinefelter syndrome is usually underdiagnosed, with an estimated 25% of the expected number of patients being ever diagnosed, and only a minority being diagnosed in childhood. If the diagnosis is not made prenatally, 47,XXY males may present with a variety of subtle clinical signs that are age-related.
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Prepubertal Diagnosis of Klinefelter Syndrome: A Rare Case Report
Klinefelter syndrome is characterised by advancing testicular function deterioration causing aspermatogenesis and androgen deficiency. Klinefelter patients characteristically have complete male sex differentiation, and genital anomalies are infrequently associated. Penoscrotal malformations at birth are very rare in this syndrome. Nonetheless, it is important to know the association, as one of...
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Background & aim: The aim of this study was to explore the men’s perceptions of being diagnosed with Klinefelter syndrome. Methods: This qualitative study was conducted on five azoospermic men diagnosed with Klinefelter syndrome referring to two special infertility treatment clinics for males in Japan. The paqrticipants were selected through purposive sampling technique.The data were collected ...
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Background: Dermatoglyphics are the dermal ridge configurations on the digits, palms and soles. Dermatoglyphic polymorphism results from the co-operation of genetic and environmental factors. The Dermatoglyphic analysis is a valuable completion of initial diagnosis of some syndromes genetically determined. Our objective was to assess dermatoglyphics study results against standard chromosomal an...
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Background The most common chromosomal abnormality due to non-obstructive azoospermia (NOA) is Klinefelter syndrome (KS) which occurs in 1-1.72 out of 500-1000 male infants. The probability of retrieving sperm as the outcome could be asymmetrically different between patients with and without KS, therefore logistic regression analysis is not a well-qualified test for this type of data. This stud...
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