Paula and Bobby
Parents of Lillie
What is Turner syndrome?
Turner syndrome affects only females. 1 in every 2,000 females born is diagnosed with the syndrome.
This rare disease is characterized by a short stature, heart defects and a failure of the reproductive organs, specifically the ovaries to develop.
In some instances the syndrome is not diagnosed until puberty when these symptoms become apparent.
Visuospatial/perceptual Abilities; Vspa
What gene changes cause Turner syndrome?
The syndrome occurs randomly when the female fetus is developing in the womb. Baby girls with the condition are born with only one normal X chromosome. The second x chromosome is missing or partially missing.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.
What are the main symptoms of Turner syndrome?
Girls with Turner syndrome usually have a short stature. The main feature of the condition is underdeveloped ovaries which prevent individuals with the condition from having periods, and to the development of secondary sexual characteristics, leading to their infertility.
Congenital hydrops (accumulation of liquid in the neck and hands), and abnormal heart defect are two of the main features that can lead to the diagnosis before puberty.
How does someone get tested for Turner syndrome?
The initial testing for Turner syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
Medical information on Turner syndrome
In 1938, Turner HH described a syndrome characterized by the triad of abnormal puberty, webbing of the skin of the neck and cubitus valgus. Turner's syndrome is present in females and is characterized by the absence of all or part of one of the two X chromosomes. Typical findings include congenital lymphedema, short stature, and primary hypogonadism. The diagnosis is frequently made in childhood due to short stature, in adolescence due to delayed puberty and streak gonads or in adulthood due to infertility.
Turner's syndrome occurs in about 1 in 2500 live female births. Approximately half of the affected girls have monosomy X, 5-10% have an isochromosome of the long arm of X (loss of the short arm (Xp)) and the rest have partial Xp or Xq deletion, ring chromosome or mosaicism for 45,X and an additional cell lineage. Deletions distal to Xq21 appear to have no effect on stature.Short stature is, in part, related to haploinsufficiency of the SHOX gene (Rao et al.1997) and loss of a region at Xp22.3 appears to be associated with the neurocognitive problems (Ross et al. 2000). Boucher et al. (2001) suggested that infants with a 45,X karyotype are the most likely to have congenital lymphedema. The presence of an isochromosome Xq suggests an increased risk for hypothyroidism and inflammatory bowel disease (Elsheikh et al. 2001).
Prenatal findings in fetuses with When Turner's syndrome include fetal edema on ultrasonography, congenital cardiac defect and renal abnormalities. After birth, puffy hands and feet and redundant nuchal skin might be present. The mean birth length is low normal; a decrease in growth velocity occurs at about 18 months of age. Congenital anomalies include hypoplastic left heart or coarctation of the aorta, bicuspid aortic valve, partial anomalous pulmonary venous return and aortic dilatation later in life (Kim et al. 2011). Renal anomalies are present in up to 30% of patients with Turner's syndrome and most frequently include rotational abnormalities such as horseshoe kidney and double renal collecting system.
Physical examination frequently shows a broad chest with widely spaced nipples, short and webbed neck, cubitus valgus, and, occasionally, Madelung deformity and short fourth metacarpals. Dysmorphic features include a high palate, nail dysplasia (small, narrow hyperconvex nails), retrognathia, low-set ears, hypertelorism and epicanthal folds (Sävendahl L and Davenport ML, 2000). Additional features include hearing loss, autoimmune abnormalities and liver function abnormalities. Ocular abnormalities are common and include amblyopia, strabismus, ptosis, hypermetropia, and red-green colour deficiency (Chrousos et al. 1984).Characteristic neurocognitive phenotype includes a normal IQ, accompanied by selective deficits in visuospatial reasoning skills, executive function, and social cognition.
The incidence of coronary heart disease is increased in adulthood and a prolonged QT interval has been reported. The risk of low bone mineral density and fractures is also increased.
The mean final height of the untreated individuals is 143.2 cm (Lyon et al. 1985); treatment with growth hormone helps to increase the final height by about 12 cm. Normal menarche is uncommon in women with Turner's syndrome and pregnancy can be achieved through in vitro fertilization with oocyte donation.
* This information is courtesy of the L M D.
If you find a mistake or would like to contribute additional information, please email us at: [email protected]
What is FDNA Telehealth?
FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.
With a hospital technology recommended by leading geneticists, our unique platform connects patients with genetic experts to answer their most pressing questions and clarify any concerns they may have about their symptoms.
Benefits of FDNA Telehealth
Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.
FDNA Telehealth provides facial analysis and screening in minutes, followed by fast access to genetic counselors and geneticists.
Ease of Use
Our seamless process begins with an initial online diagnosis by a genetic counselor and follows by consultations with geneticists and genetic testing.
Accuracy & Precision
Advanced artificial intelligence (AI) capabilities and technology with a 90% accuracy rate for a more accurate genetic analysis.
Faster access to genetic counselors, geneticists, genetic testing, and a diagnosis. As fast as within 24 hours if required. Save time and money.
Privacy & Security
We guarantee the utmost protection of all images and patient information. Your data is always safe, secure, and encrypted.