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Henry Turner. Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder in which the patient's 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. [2][6][7] Most ...
Parsonage–Turner syndrome, also known as acute brachial neuropathy, neuralgic amyotrophy and abbreviated PTS, is a syndrome of unknown cause; although many specific risk factors have been identified (such as; post-operative, post-infectious, post-traumatic or post-vaccination). [4] It is also known as brachial plexitis, and results in ...
Turner's hypoplasia or Turner's tooth is a presentation of enamel hypoplasia that normally affects only a single tooth. Its causes can be the same as other forms of enamel hypoplasia, but it is most commonly associated with trauma to a primary maxillary central incisor and the subsequent developmental disturbance of the underlying permanent ...
Hypergonadotropic hypogonadism (HH), also known as primary or peripheral/gonadal hypogonadism or primary gonadal failure, is a condition which is characterized by hypogonadism which is due to an impaired response of the gonads to the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH), and in turn a lack of sex steroid production. [1]
Turner syndrome and chronic kidney failure were the first of these "nonGH-deficient causes of shortness" to receive FDA approval for GH treatment, and Prader–Willi syndrome and intrauterine growth retardation followed. Similar expansion of use occurred in Europe. [citation needed] One obvious potential market was adult GH deficiency.
Trisomy X, also known as triple X syndrome and characterized by the karyotype [note 1] 47,XXX, is a chromosome disorder in which a female has an extra copy of the X chromosome. It is relatively common and occurs in 1 in 1,000 females, but is rarely diagnosed; fewer than 10% of those with the condition know they have it.
Webbed neck. Webbed neck. Other names. Pterygium colli deformity. Teenage girl with Turner syndrome and webbed neck. Specialty. Medical genetics. A webbed neck, or pterygium colli, is a congenital skin fold that runs along the sides of the neck down to the shoulders. There are many variants.
Gonadal dysgenesis is classified as any congenital developmental disorder of the reproductive system characterized by a progressive loss of primordial germ cells on the developing gonads of an embryo. [1][2] One type of gonadal dysgenesis is the development of functionless, fibrous tissue, termed streak gonads, instead of reproductive tissue. [3]