Triple a syndrome or aaa syndrome, is a rare autosomal recessive congenital disorder. In australia around 11,600 females have triple x syndrome. Achalasia is a disorder that affects the ability to move food through the esophagus, the tube that carries food from the throat to the stomach. Also known as trisomy x or 47, xxx syndrome, triple x syndrome is a chromosomal disorder that affects females. Chromosome analysis is the best way to diagnose triple x syndrome as it will clearly show the female to have 3 x chromosomes instead of the normal 2. This is a likely consequence of vasospasm, due to sympathetic denervation supersensitivity, caused by dropout of sympathetic efferents as part of the small caliber nerve fibre insult. Since then, about 100 cases have been reported, all of them displaying an autosomal recessive pattern of inheritance. Dual therapyafteran acute coronary syndrome in atrial. Triple x syndrome is also known as triplox, trisomy x, xxx syndrome, 47,xxx aneuploidy. The onset of triple a syndrome varies between infancy and adulthood. Triple a syndrome is characterized by three specific features. Full text full text is available as a scanned copy of the original print version. All structured data from the file and property namespaces is available under the creative commons cc0 license.
The triple x support group is a voluntary, selfhelp organization dedicated to providing support, resources, and informational materials to parents of children with triple x syndrome. On average, five to ten girls with triple x syndrome are born in the united states each day. Many girls with triple x syndrome are healthy and do not experience any symptoms. Triple x means this human presence of an extra x chromosome in their gene xxx presence of the extra x chromosome, results from errors during the normal division of reproductive cells in one of the. Despite the expectation that 50% of offspring would carry an extra x chromosome, the actual empirical risk to offspring is low. Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a nonsex chromosome. Triple x syndrome is a genetic disorder that only affects women. Girls with triple x syndrome also known as xxx syndrome, trisomy x, and 47,xxx, might be taller than other girls. Usually there are no other physical differences and normal fertility. Women affected with trisomy x syndrome have three x chromosomes. Pdf triple x syndrome trisomy x is a sex chromosomal anomaly caused by the presence of an extra x chromosome. There are other internetbased support groups specific to triple x syndrome. Triple x syndrome an overview sciencedirect topics. Triple x syndrome also known as triplox, trisomy x, xxx syndrome, 47,xxx aneuploidy is a form of chromosomal variation characterized by the presence of an extra x chromosome in each cell of a human female.
Many girls and women with triple x syndrome dont experience symptoms or have only. Triple a syndrome genetic and rare diseases information. Triple x support group nord national organization for rare. Triple xxx syndrome definition of triple xxx syndrome by. Triple a syndrome or allgroves syndrome is a rare autosomal recessive disorder usually manifested with three main clinical features, i. Links to pubmed are also available for selected references. Trisomy x syndrome also known as triple x syndrome and as xxx syndrome is a chromosomal abnormality which is found exclusively in women. In most patients, the symptomatic skin is abnormally cold. Allgrove syndrome or triple a 3a syndrome is a multisystem disorder which classically involves the triad of esophageal achalasia, alacrima, and adrenal insufficiency due to adrenocorticotropin hormone insensitivity. Triple x syndrome also called xxx syndrome, trisomy x, or 47,xxx aneuploidy is a genetic disorder in which a woman carries an extra x chromosome in each of her cells. It is a progressive disorder that can take years to develop the fullblown clinical picture.
It was later determined that an extra partial or complete chromosome 21 results in the characteristics associated with down syndrome. The extent to which an individual is affected by the condition will depend. The syndrome involves achalasia, addisonianism, and alacrima. Jul 06, 2017 triple x, also called trisomy x and 47,xxx, is a genetic condition that occurs when a girl receives three x chromosomes from her parents.
Mri of the brain of yearold boy with triple a syndrome showing hypoplastic lacrimal glands yellow arrows. A progressive neurological syndrome including central, peripheral and autonomic nervous. Individuals with three x chromosomes, or triple x syndrome, appear physically normal, although by adolescence, many are taller than average. Triple x syndrome or 47, xxx is a sex chromosome aneuploidy sca in which affected females may have a variety of physical, medical, and psychological features. Prognosis if untreated, triple a syndrome may have a high morbidity and prognosis can be severe. Females normally have two x chromosomes in all cells one x chromosome from each parent. Triple x syndrome occurs in around 1 in 1,000 girls.
In some women with trisomy x syndrome, only some of the bodys cells have a third x chromosome. It can lead to severe feeding difficulties and low blood sugar hypoglycemia. If the file has been modified from its original state, some details such as the timestamp may not fully reflect those of the original file. Triple x syndrome diagnosis can be confirmed by genetic testing, in which the chromosomes are analyzed in a blood sample. The gene for the syndrome has been cloned and genetic counseling should be offered to. What is triple x syndromecausessymptomstreatmentdiagnosis. Jan 18, 2019 triple x syndrome, also called trisomy x or 47,xxx, is a genetic disorder that affects about 1 in 1,000 females. Jun 24, 20 triple a allgrove syndrome was first described by allgrove in 1978 in two pairs of siblings. Full text is available as a scanned copy of the original print version.
Know the causes, symptoms, treatment and diagnosis of triple x syndrome. When this information guide was written, unique had over 7 members with triple x syndrome, aged from birth to 66 years old. A syndrome is not equivalent to a disease as a nosologic form, since the causes of a syndrome may be different. Triple a syndrome is caused by mutations in aaas, a new wdrepeat protein gene. Most females with triple x syndrome have normal sexual development. Triple a syndrome diagnostic and management issues.
The authors present a family with three children affected with triple a syndrome one had died, one was saved by diagnosis and timely therapy, and one was born after the diagnosis in the second child. Triple x, also called trisomy x and 47,xxx, is a genetic condition that occurs when a girl receives three x chromosomes from her parents. It does not always cause symptoms but sometimes it can result in certain physical characteristicsproblems, such as taller than average height, a small head, poor motor skills, learning disabilities or behavioral problems and infertility. Females are usually born with two x chromosomes 46,xx in total. Triple xxx syndrome article about triple xxx syndrome by. In contrast to other trisomies, triple x syndrome does not have a. Triple a syndrome wikipedia no clear diagnosis was reached. Triple x syndrome is also known as triplox, xxx syndrome, 47, xxx aneuploidy or trisomy x and it is mainly due to an extra x chromosome, which is an abnormal thing. Triple x syndrome is also called 47,xxx syndrome because the extra x chromosome results in 47 chromosomes in each cell instead of the usual 46. Incredibles wannabe sidekick turned bad guy, from the incredibles 2004. Triple x syndrome which is also known by the name trisomy x is a genetic pathological condition found only in females where they tend to have three x chromosomes instead of the two which is the norm for each cell. This file is licensed under the creative commons attributionshare alike 3. Triple a allgrove syndrome was first described by allgrove in 1978 in two pairs of siblings. Triplex syndrome is listed as a rare disease by the office of rare diseases ord of the national institutes of health nih.
Often the elements of a syndrome are merely distinct effects of a common cause, but sometimes the relationship is one of observed association and the causal link is not yet understood. The incidence of 47, xxx is approximately one in 1,000 live born females jacobs, 1979. Becky h what cause females to have triple x syndrom. Jan 08, 2020 triple a syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration. Linkage of the gene for the triple a syndrome to chromosome 12q near the type ii keratin gene cluster. Allgroves or 4 a syndrome is a rare autosomal recessive condition with alacrima, achalasia, autonomic disturbance, and acth insensitivity among. Aug 28, 2017 thus, triple x syndrome may be diagnosed as an incidental finding when the female is being examined to rule out some other condition. Triple a syndrome is an inherited condition characterized by three specific features. Although females with this condition may be taller than average, this chromosomal change typically causes no unusual physical features. Triple x syndrome is the presence of an extra x chromosome. All structured data from the file and property namespaces is available under. To our knowledge this is the first example of a triple x female giving birth to a child with turners syndrome. Triple x syndrome, also known as trisomy x and 47,xxx, is characterized by the presence of an extra x chromosome in each cell of a female.
May 03, 2019 triple a syndrome or aaa syndromealso known as achalasiaaddisonianismalacrima syndrome or allgrove syndromeallrgove is a rare autosomal recessive congenital disorder. Chromosomes are described to have a rod like kind of structure and are normally present in the cellular nucleus found in the persons body. Trisomy x syndrome, 47xxx, super female syndrome, the x and y sex chromosomes in the human body determines the gender of a person. On the other hand, no euchromatic duplication cgcnvs were yet reported without considering at the same time x. It is a form of chromosomal variation characterized by the presence of an extra x chromosome. Full text get a printable copy pdf file of the complete article 288k, or click on a page image below to browse page by page. Other symptoms can include problems with spoken language and processing spoken words, coordination problems, and weaker muscles. Genetic and rare diseases information center gard of national center for advancing translational sciences ncats, usa. Instead of the usual 46 chromosomes present in each cell, lejeune observed 47 in the cells of individuals with down syndrome. The syndrome involves achalasia, addisonianism adrenal insufficiency of primary type, and alacrima insufficiency of tears. Occasionally there are learning difficulties, decreased muscle tone, seizures, or kidney problems. Syndrom neurological disorder constitutes part of the condition, the severe and progressive muscle weakness of longterm undiagnosed adrenal insufficiency makes a major contribution to reduced motor function and quality of life, as seen in our patient.
Before genetic testing, genetic counselling is important to get more information about the disorder. The first published report of a woman with a 47,xxx karyotype was by patricia a. Triple a achalasiaaddisonianismalacrima syndrome or allgroves syndrome is a rare autosomal recessive condition characterized by adrenocortico tropic hormone acth insensitivity, achalasia. The syndrome was first identified by jeremy allgrove and colleagues in 1978. For specific syndromes, see under the name, such as adrenogenital syndrome or reyes syndrome. Jan 18, 2019 if this is the case, the child has a mosaic form of triple x syndrome, and only some cells have the extra x chromosome.
The term triple cold syndromeis coined to describe this specific pathophysiological condition. Triple x syndrome is a genetic condition found in females only. Get a printable copy pdf file of the complete article 3. Files are available under licenses specified on their description page. It does not always cause symptoms but sometimes it can result in certain physical characteristicsproblems, such as taller than average height, a small head, poor motor skills, learning disabilities or. Females with the mosaic form may have less obvious symptoms. In triple x syndrome, a female has three x chromosomes.
Triple x syndrome symptoms, pictures, treatment, life. Triple x syndrome, also called trisomy x or 47,xxx, is characterized by the presence of an additional x chromosome in each of a females cells. Allgrove syndrome as is rare autosomal recessive disorder characterised by achalasia cardia, alacrimia and adrenal insufficiency, which is. Erectile dysfunction in our patient was neurological in origin, and so it is not surprising that it failed to respond to usual therapies. A mosaic form also occurs where only a percentage of the body cells contain xxx while the remainder carry xx. Request pdf triple a syndrome triple a syndrome allgrove syndrome is an autosomal recessive disorder consisting of achalasia, alacrima and addison insufficiency. Triple a syndrome or aaa syndrome, also known as achalasiaaddisonianism alacrima syndrome or allgrove syndrome, is a rare autosomal recessive. Triple x syndrome is listed as a rare disease by the office of rare diseases ord of the national institutes of health nih. Triple x support group nord national organization for. Managementof acutecoronarysyndromein patientswithnon. Some of them are listed on the back of this information guide.
Allgroves or 4 a syndrome is a rare autosomal recessive condition with alacrima, achalasia, autonomic disturbance, and acth insensitivity. This file contains additional information such as exif metadata which may have been added by the digital camera, scanner, or software program used to create or digitize it. Triplea syndrome or aaa syndrome, also known as achalasiaaddisonianism alacrima syndrome or allgrove syndrome, is a rare autosomal recessive. For example, meningeal syndrome, or irritation of the meninges, may be a result of the disruption of cerebral circulation subarachnoid hemorrhage and a meningococcic infection, and uremic syndrome is the final stage of many kidney. Clinical picture is characterized by achalasia, alacrimia and acthresistant adrenal failure. Triplea syndrome or aaa syndrome, is a rare autosomal recessive congenital disorder. Syndrome pop culture when innocent heroworship goes unrequited, the consequences can be dire for both the admirer and the admired. It is a neglected disease, commonly manifesting with the triad of adrenal insufficiency, achalasia of the esophageal cardia and alacrima aaa.
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