Turner syndrome

Turner's syndrome45,Xmonosomy XTurnerTurnersX045, XBonnevie–Ullrich syndromeBonnevie–Ullrich–Turner syndromeGonadal dysgenesis Turner type
Turner syndrome (TS), also known 45,X, or 45,X0, is a genetic condition in which a female is partly or completely missing an X chromosome.wikipedia
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Congenital heart defect

congenital heart diseasecongenital heart defectsheart defect
Heart defects, diabetes, and low thyroid hormone occur more frequently.
A number of genetic conditions are associated with heart defects, including Down syndrome, Turner syndrome, and Marfan syndrome.

Genetic testing

DNA testingDNA analysisDNA test
Diagnosis is based on physical signs and genetic testing.
Deviations from the expected number of chromosomes (46 in humans) could lead to a diagnosis of certain genetic conditions such as trisomy 21 (Down syndrome) or monosomy X (Turner syndrome).

Low-set ears

low set earslow-set
Often, a short and webbed neck, low-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth.

Short stature

Shortdiminutivegrowth deficiency
Often, a short and webbed neck, low-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth.
Among children without growth hormone deficiency, short stature may be caused by Turner syndrome or Noonan syndrome, chronic kidney disease, being small for gestational age at birth, Prader–Willi syndrome, Wiedemann-Steiner syndrome, or other conditions.

Chromosome abnormality

chromosomal abnormalitieschromosome abnormalitieschromosomal abnormality
Turner syndrome is due to a chromosomal abnormality in which all or part of one of the X chromosomes is missing or altered.
An example of monosomy is Turner syndrome, where the individual is born with only one sex chromosome, an X.

Genetic disorder

genetic diseasegenetic disordersgenetic diseases
Turner syndrome (TS), also known 45,X, or 45,X0, is a genetic condition in which a female is partly or completely missing an X chromosome.
X-linked recessive conditions can sometimes manifest in females due to skewed X-inactivation or monosomy X (Turner syndrome).

Mosaic (genetics)

mosaicismmosaicgenetic mosaic
The chromosomal abnormality may be present in just some cells in which case it is known as TS with mosaicism.
Around 30% of Turner's syndrome cases demonstrate mosaicism, while complete monosomy (45, X) occurs in about 50–60% of cases.

Webbed neck

Webbing of neckwebbing of the neck
Often, a short and webbed neck, low-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth.
It is a feature of Turner syndrome (only found in girls) and Noonan syndrome, as well as the rarer Klippel-Feil syndrome, or Diamond-Blackfan anemia

Henry Turner (endocrinologist)

Henry Turner
Henry Turner first described the condition in 1938.
Henry Hubert Turner (August 28, 1892 – August 4, 1970) was an American endocrinologist, noted for his published description of Turner syndrome in 1938 at the annual meeting of the Association for the Study of Internal Secretions.

X chromosome

XX-chromosomechromosome X
Turner syndrome (TS), also known 45,X, or 45,X0, is a genetic condition in which a female is partly or completely missing an X chromosome.

Lymphedema

lymphoedemaelephantiasiscongenital lymphedema
Multiple syndromes are associated with primary lymphedema, including Turner syndrome, Milroy's disease, and Klippel-Trenaunay-Weber syndrome.

Amenorrhea

amenorrhoeaprimary amenorrheasecondary amenorrhea
Typically, they develop menstrual periods and breasts only with hormone treatment, and are unable to have children without reproductive technology. Turner syndrome is characterized by primary amenorrhoea, premature ovarian failure (hypergonadotropic hypogonadism), streak gonads and infertility (however, technology (especially oocyte donation) provides the opportunity of pregnancy in these patients).
Gonadal dysgenesis, often associated with Turner's Syndrome, or premature ovarian failure may also be to blame.

Cystic hygroma

Cystic hygromasCystic lymphatic malformationlymphatic malformation
Usually, fetuses with Turner syndrome can be identified by abnormal ultrasound findings (i.e., heart defect, kidney abnormality, cystic hygroma, ascites).
Additionally, it can be associated with Down syndrome, Turner syndrome, or Noonan syndrome.

Coarctation of the aorta

aortic coarctationCoarctation of aortacoarctation
The higher rate in the group of pure 45,X monosomy is primarily due to a difference in the rate of aortic valve abnormalities and coarctation of the aorta, the two most common cardiovascular malformations.
It is common in girls who have Turner syndrome.

Cubitus valgus

valgus
Other features may include a small lower jaw (micrognathia), cubitus valgus, soft upturned nails, palmar crease, and drooping eyelids.
When present at birth, it can be an indication of Turner syndrome or Noonan syndrome.

Hypoplastic left heart syndrome

hypoplastic left
Hypoplastic left heart syndrome represents the most severe reduction in left-sided structures.
HLHS is also associated with several genetic syndromes, including trisomy 13 (Patau syndrome), trisomy 18 (Edwards syndrome), partial trisomy 9, Turner's syndrome (XO), Jacobsen syndrome (11q deletion syndrome), Holt-Oram syndrome, and Smith-Lemli-Opitz syndrome.

Bicuspid aortic valve

bicuspid valvecongenitally have two leaflets
This includes bicuspid aortic valve and coarctation (narrowing) of the aorta.
It is also the most observed cardiac defect in Turner syndrome.

Hypothyroidism

hypothyroidhypo-underactive thyroid
Heart defects, diabetes, and low thyroid hormone occur more frequently.
There is a much higher rate of thyroid disorders, the most common of which is hypothyroidism, in individuals with Down syndrome and Turner syndrome.

Osteoporosis

bone lossosteoporoticpostmenopausal osteoporosis
Due to inadequate production of estrogen, many of those with Turner syndrome develop osteoporosis.

Metacarpal bones

metacarpalmetacarpalsmetacarpus
A blunted fourth metacarpal, with normal fifth metacarpal, can signify Turner syndrome.

Aortic valve

aorticaortic valvesaortic semilunar valve
The higher rate in the group of pure 45,X monosomy is primarily due to a difference in the rate of aortic valve abnormalities and coarctation of the aorta, the two most common cardiovascular malformations.
Turner syndrome, a congenital condition that affects females, can often have a bicuspid aortic valve as one of its symptoms.

Miscarriage

miscarriedspontaneous abortionmiscarriages
Even when such pregnancies do occur, there is a higher than average risk of miscarriage or birth defects, including Turner syndrome or Down syndrome.
Common chromosome abnormalities found in miscarriages include an autosomal trisomy (22–32%), monosomy X (5–20%), triploidy (6–8%), tetraploidy (2–4%), or other structural chromosomal abnormalities (2%).

Gonadal dysgenesis

streak gonadsovarian dysgenesisstreak ovaries
Turner syndrome is characterized by primary amenorrhoea, premature ovarian failure (hypergonadotropic hypogonadism), streak gonads and infertility (however, technology (especially oocyte donation) provides the opportunity of pregnancy in these patients).
Turner syndrome, also known as 45,X or 45,X0, is a chromosomal abnormality characterised by a partial or completely missing second X chromosome

Aortic dissection

dissecting aortic aneurysmdissectionthoracic aortic dissection
Even if not every aortic root dilatation necessarily goes on to an aortic dissection (circumferential or transverse tear of the intima), complications such as dissection, aortic rupture resulting in death may occur.
Turner syndrome also increases the risk of aortic dissection, by aortic root dilatation.

Micrognathism

micrognathiaagnathiaSmall jaw size
Other features may include a small lower jaw (micrognathia), cubitus valgus, soft upturned nails, palmar crease, and drooping eyelids.