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Klinefelter syndrome (KS), also known as 47,XXY, is a chromosome anomaly where a male has an extra X chromosome. [10] These complications commonly include infertility and small, poorly functioning testicles (if present).
The syndrome is diagnosed in an increasing number of children prenatally by amniocentesis and chorionic villus sampling [24] in order to obtain a chromosome karyotype, where the abnormality can be observed. It is estimated that only 15–20% of children with 47,XYY syndrome are ever diagnosed. Of these, approximately 30% are diagnosed prenatally.
46,XX/46,XY chimeric or mosaic is associated with a wide spectrum of different physical presentations, with cases ranging from having a completely normal male or female phenotype [7] [8] [9] to some cases having ovotesticular syndrome. Due to this variation, genetic testing is the only way to reliably make a diagnosis.
This is an accepted version of this page This is the latest accepted revision, reviewed on 21 January 2025. Atypical congenital variations of sex characteristics This article is about intersex in humans. For intersex in other animals, see Intersex (biology). Not to be confused with Hermaphrodite. Intersex topics Human rights and legal issues Compulsory sterilization Discrimination Human rights ...
A number of differences have been reported in the karyotype, most commonly a mosaicism 45,X/ 46,XY. [52] Ovotesticular disorder (also called true hermaphroditism) – a rare condition where an individual has both ovarian and testicular tissue. [53] It is the rarest DSD with at least 500 cases being reported in literature. [54]
Like Klinefelter syndrome, the presence of additional X chromosomes affects the male reproductive system, can cause physical abnormalities, and can affect cognitive development. When comparing 47,XXY and 48,XXXY, there is a greater risk for congenital malformations and more medical problems in those with 48,XXXY. [2]
Physical health is generally good and many women with trisomy X live into old age. [26] Little data exists on aging in trisomy X. [ 5 ] Data from the Danish Cytogenetic Central Register, which covers 13% of women with trisomy X in Denmark, [ 43 ] suggests a life expectancy of 71 for women with full trisomy X and 78 for mosaics, compared to 84 ...
[12] [13] Although variations exist and there may be a degree of overlap between typically male or female traits, [12] [13] the pelvis is the most dimorphic bone of the human skeleton and is therefore likely to be accurate when using it to ascertain a person's sex. [13] It differs both in overall shape and structure.