[Turner syndrome].
Identifieur interne : 000451 ( France/Analysis ); précédent : 000450; suivant : 000452[Turner syndrome].
Auteurs : S. Cabrol [France]Source :
- Annales d'endocrinologie [ 0003-4266 ] ; 2007.
Descripteurs français
- KwdFr :
- MESH :
- génétique : Syndrome de Turner.
- imagerie diagnostique : Syndrome de Turner.
- épidémiologie : Syndrome de Turner.
- Chromosomes X humains, Chromosomes Y humains, Délétion de segment de chromosome, Femelle, Humains, Maladies liées aux chromosomes sexuels, Radiographie.
English descriptors
- KwdEn :
- MESH :
- diagnostic imaging : Turner Syndrome.
- epidemiology : Turner Syndrome.
- genetics : Turner Syndrome.
- Chromosome Deletion, Chromosomes, Human, X, Chromosomes, Human, Y, Female, Humans, Radiography, Sex Chromosome Disorders.
Abstract
Turner syndrome occurs in 1:5000 live births (1:2,500 females) and is caused not only by X-chromosome monosomy, but also in a large degree, by the presence of a mosaicism (45,X) and/or an abnormal X or Y chromosome (deletion, isochromosome X, dicentric chromosome). Clinical features are heterogeneous and typical physical anomalies are often mild or absent. In all cases, patients are short but final height has been improved by growth hormone therapy. Ovarian failure, with variable onset depending on the chromosomal anomalies, is frequent. Others visceral diseases (bone anomalies, lymphedema, deafness, and cardiovascular, thyroid, gastrointestinal diseases) are less common and need a screening at diagnosis, then a survey during adolescence and adulthood. During gestation, typical forms can be diagnosed by ultrasound examination, but mild forms are discovered incidentally during amniocentesis for unrelated reasons (advanced maternal age) and prenatal advice is difficult. The quality of life and social life is better when puberty is not induced too late, and in absence of cardiac disease or deafness. Deafness can lead to learning difficulties and, during adulthood, sterility can have a negative effect on quality of life. The prognosis depends on heart diseases, obesity, arterial hypertension and osteoporosis. Therefore, a long-term follow-up is necessary.
DOI: 10.1016/j.ando.2006.12.002
PubMed: 17320033
Affiliations:
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pubmed:17320033Le document en format XML
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Cabrol</name><affiliation wicri:level="4"><nlm:affiliation>Service d'endocrinologie pédiatrique, université Pierre-et-Marie-Curie, Paris-VI, hôpital Armand-Trousseau, APHP, 26, avenue du Docteur-Arnold-Netter, 75571 Paris cedex 12, France. sylvie.cabrol@trs.aphp.fr</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service d'endocrinologie pédiatrique, université Pierre-et-Marie-Curie, Paris-VI, hôpital Armand-Trousseau, APHP, 26, avenue du Docteur-Arnold-Netter, 75571 Paris cedex 12</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Pierre-et-Marie-Curie</orgName></affiliation></author></analytic><series><title level="j">Annales d'endocrinologie</title><idno type="ISSN">0003-4266</idno><imprint><date when="2007" type="published">2007</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Chromosome Deletion</term><term>Chromosomes, Human, X</term><term>Chromosomes, Human, Y</term><term>Female</term><term>Humans</term><term>Radiography</term><term>Sex Chromosome Disorders</term><term>Turner Syndrome (diagnostic imaging)</term><term>Turner Syndrome (epidemiology)</term><term>Turner Syndrome (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Chromosomes X humains</term><term>Chromosomes Y humains</term><term>Délétion de segment de chromosome</term><term>Femelle</term><term>Humains</term><term>Maladies liées aux chromosomes sexuels</term><term>Radiographie</term><term>Syndrome de Turner (génétique)</term><term>Syndrome de Turner (imagerie diagnostique)</term><term>Syndrome de Turner (épidémiologie)</term></keywords><keywords scheme="MESH" qualifier="diagnostic imaging" xml:lang="en"><term>Turner Syndrome</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Turner Syndrome</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Turner Syndrome</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Syndrome de Turner</term></keywords><keywords scheme="MESH" qualifier="imagerie diagnostique" xml:lang="fr"><term>Syndrome de Turner</term></keywords><keywords scheme="MESH" qualifier="épidémiologie" xml:lang="fr"><term>Syndrome de Turner</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Chromosome Deletion</term><term>Chromosomes, Human, X</term><term>Chromosomes, Human, Y</term><term>Female</term><term>Humans</term><term>Radiography</term><term>Sex Chromosome Disorders</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Chromosomes X humains</term><term>Chromosomes Y humains</term><term>Délétion de segment de chromosome</term><term>Femelle</term><term>Humains</term><term>Maladies liées aux chromosomes sexuels</term><term>Radiographie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Turner syndrome occurs in 1:5000 live births (1:2,500 females) and is caused not only by X-chromosome monosomy, but also in a large degree, by the presence of a mosaicism (45,X) and/or an abnormal X or Y chromosome (deletion, isochromosome X, dicentric chromosome). Clinical features are heterogeneous and typical physical anomalies are often mild or absent. In all cases, patients are short but final height has been improved by growth hormone therapy. Ovarian failure, with variable onset depending on the chromosomal anomalies, is frequent. Others visceral diseases (bone anomalies, lymphedema, deafness, and cardiovascular, thyroid, gastrointestinal diseases) are less common and need a screening at diagnosis, then a survey during adolescence and adulthood. During gestation, typical forms can be diagnosed by ultrasound examination, but mild forms are discovered incidentally during amniocentesis for unrelated reasons (advanced maternal age) and prenatal advice is difficult. The quality of life and social life is better when puberty is not induced too late, and in absence of cardiac disease or deafness. Deafness can lead to learning difficulties and, during adulthood, sterility can have a negative effect on quality of life. The prognosis depends on heart diseases, obesity, arterial hypertension and osteoporosis. Therefore, a long-term follow-up is necessary.</div></front></TEI><affiliations><list><country><li>France</li></country><region><li>Île-de-France</li></region><settlement><li>Paris</li></settlement><orgName><li>Université Pierre-et-Marie-Curie</li></orgName></list><tree><country name="France"><region name="Île-de-France"><name sortKey="Cabrol, S" sort="Cabrol, S" uniqKey="Cabrol S" first="S" last="Cabrol">S. Cabrol</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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