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In the Turner's context, diagnosis may in particular be missed due to growth delay; such conditions cause growth delay and failure to thrive when they onset in childhood, but as girls with Turner syndrome already have such delay, symptoms may be overlooked and ascribed to the original condition.
Individuals with Turner syndrome may have short stature, dysmorphic features, gonadal dysgenesis, and delayed puberty. [5] Other signs and symptoms associated with HH consist of intellectual disability or learning difficulties and delayed puberty including amenorrhea and absent breast and pubic hair development.
Examples of congenital causes of hypogonadism, that is, causes that are present at birth: [citation needed] Turner syndrome and Klinefelter syndrome. It is also one of the signs of CHARGE syndrome. Examples of acquired causes of hypogonadism: [citation needed]
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 ...
Turner syndrome is a condition in females in which there is partial or complete loss of one X chromosome. This causes symptoms such as growth and sexual development problems. In 15% of Turner syndrome patients, the structural abnormality is isochromosome X, which is composed of two copies of the q arm (i(Xq)).
If the child has any neurological symptoms, it is highly recommended that the physician obtains a head MRI to detect possible brain lesions. [7] In girls with hypergonadotropic hypogonadism, a karyotype can identify chromosomal abnormalities, the most common of which is Turner syndrome. [7]
It can also cause short stature in men and women. In addition to little genital development, pubic and body hair are scant. [7] Some of the facial features that are associated with Wilson–Turner syndrome include small head circumferences, high foreheads, prominent ears, and noses with flattened bridges.
A more complete list of causes includes: mutations of specific genes (e.g., GHRHR, GH1) congenital diseases such as Prader-Willi syndrome, Turner syndrome, [10] or short-stature homeobox gene deficiency [11] congenital malformations involving the pituitary (e.g., septo-optic dysplasia, posterior pituitary ectopia) chronic kidney disease [12]