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Turner syndrome (TS), commonly known as 45,X, or 45,XO, [note 1] is a chromosomal disorder in which cells have only one X chromosome or are partially missing an X chromosome (sex chromosome monosomy) leading to the complete or partial deletion of the pseudoautosomal regions (PAR1, PAR2) in the affected X chromosome.
It is a feature of Turner syndrome [1] (only found in girls) and Noonan syndrome, [2] as well as the rarer Klippel–Feil syndrome, [3] or Diamond–Blackfan anemia. [4]
In girls with hypergonadotropic hypogonadism, a karyotype can identify chromosomal abnormalities, the most common of which is Turner syndrome. [7] In boys, a karyotype is indicated if the child may have a congenital gonadal defect such as Klinefelter syndrome. [2]
Turner syndrome, monosomy 45XO, is a genetic disorder characterized by a missing, or partially missing, X chromosome. [18] Turner syndrome is associated with a wide spectrum of features that vary with each case. [18] However, one common feature of this syndrome is ovarian insufficiency due to gonadal dysgenesis.
Turner syndrome is usually not diagnosed until a delayed onset of puberty with Müllerian structures found to be in infantile stage. [4] Physical phenotypic characteristics include short stature, dysmorphic features and lymphedema at birth. [23] Comorbidities include heart defects, vision and hearing problems, diabetes, and low thyroid hormone ...
The first described case of pure gonadal dysgenesis was in 1960, in a patient with presumed Turner syndrome but without the expected stigmata. [50] In 1951, Perrault, Klotz, and Housset reported the association of gonadal dysgenesis and deafness in two sisters, and this presentation is now called Perrault syndrome .
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Around 5% of females with Turner syndrome, defined by a karyotype with a single copy of the X chromosome, have a 47,XXX cell line. [14] Mosaic karyotypes with both 45,X and 47,XXX cells are considered Turner syndrome rather than trisomy X, but the presence of 47,XXX cells influences the disorder, [ 28 ] with milder effects than non-mosaic ...