Females with the mosaic form may have less obvious symptoms. Triple a allgrove syndrome, an autosomal recessive disease is characterized by achalasia, alacrimia and acthresistant adrenal failure with progressive. Triple a syndrome is a rarely seen autosomal recessive disease characterized by achalasia, adrenal failure and alacrima. Triple a syndrome allgrove syndrome is an autosomal recessive disorder consisting of achalasia, alacrima and addison insufficiency. Rates of morbidity have been studied in ts and ks and have been found. Triple a syndrome is an inherited condition characterized by three specific features. The syndrome occurs in about 1 in female births, but, it is estimated that approximately 10 percent of females with the condition are diagnosed in their lifetime. 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. Feb 06, 2020 triple x syndrome, also known as 47, xxx, triple x, triplox, or trisomy x is a sex chromosome aneuploidy, or chromosome abnormality, in which females have an additional x chromosome. Table 1 reported mutations in the aaas gene in subjects with triple a syndrome. In children with triple x syndrome, early assessment and intervention show a great response. In children with triple x syndrome, the assessment of kidney and heart function is necessary. Many girls and women with triple x syndrome dont experience symptoms or have only.
Triple x syndrome 47xxx is a sex chromosome abnormality characterized by presence of an extra x chromosome. Respiratory infections and chronic cough due to triple a. Triple a syndrome has an autosomal recessive mode of inheritance, thus causing a 25% recurrence risk for parents with an affected child. Triple x syndrome is not rare, but it is often undiagnosed. 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.
Triple a 3a syndrome or allgrove syndrome is a multisystem disorder first described in 1978, which classically involves the triad of esophageal achalasia, alacrima, and adrenocorticotropin hormone acthresistant adrenal insufficiency. Notwithstanding the relatively high prevalence of triple x syndrome, there are many issues yet to be studied in physical and behavioural development up to old age. Triplea syndrome allgrove syndrome is an autosomal recessive disorder characterized by adrenal insufficiency, alacrima, achalasia, and occasionally autonomic instability. Jul 01, 2009 triple x syndrome is a syndrome with a high level of variety in the physical and behavioural phenotype. On average, five to ten girls with triple x syndrome are born in the united states each day. 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. Get a printable copy pdf file of the complete article 3. Triple x syndrome is an abnormality of the chromosomes that affects about 1 in 1,000 females. Trisomy x is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra x chromosome in females 47,xxx instead of 46,xx. As some individuals are only mildly affected or asymptomatic, it is estimated that only 10% of individuals with trisomy x are. 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.
May 25, 2017 triple x syndrome can be diagnosed before the baby is born, through chorionic villus sampling cvs or amniocentesis, and a blood test after she is born cvs tissue is taken from the placenta. The term triple cold syndromeis coined to describe this specific pathophysiological condition. Jan 18, 2019 if triple x syndrome is suspected based on signs and symptoms, it can be confirmed by genetic testing chromosome analysis using a blood sample. Genetic and rare diseases information center gard of national center for advancing translational sciences ncats, usa. Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a nonsex chromosome. Triple a syndrome or allgrove syndrome was first identified by.
Triple x syndrome is a syndrome with a high level of variety in the physical and behavioural phenotype. The triple a syndrome is due to mutations in aladin, a novel member of the nuclear pore complex. 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. Sep 24, 2015 triple a syndrome is characterized by three specific features.
Most of the girls born with triple x chromosomes have no signs or symptoms at birth. Allgrove syndrome is an autosomal recessive condition characterized by adrenocorticotropic hormone resistant. Allgrove triple a syndrome is a rare autosomal recessive disorder characterized by cardinal features of adrenal insufficiency due to adrenocorticotropic. Triplea syndrome is characterized by triad of adrenocorticotrophic hormone acth resistant adrenal insufficiency, alacrimia and achalasia cardia. Management and treatment treatment for triple a syndrome includes hydrocortisone substitutive therapy, esophageal dilatation or myotomy of the lower esophageal sphincter and artificial tear drops. Triple x syndrome is a genetic disorder that only affects women. On the other hand, no euchromatic duplication cgcnvs were yet reported without considering at the same time x. Clinical and genetic characterisation of a series of. Triple x syndrome causes, symptoms, diagnosis, treatment. Triple a syndrome is a rare autosomal recessive disorder characterized by triad of adrenocortico tropic hormone acth insensitivity, achalasia cardia and alacrima. May, 2003 triple a syndrome is a human autosomal recessive disorder characterized by an unusual array of tissuespecific defects. Triple x syndrome occurs in around 1 in 1,000 girls.
Triplea syndrome or aaa syndrome, is a rare autosomal recessive congenital disorder. Triple a syndrome genetic and rare diseases information. The incidence of 47, xxx is approximately one in 1,000 live born females jacobs, 1979. Triple a syndrome arises from mutations in a wdrepeat protein of unknown function called aladin also termed adracalin or aaas. The extra x chromosome is very rarely of paternal origin. The incidence, like other chromosomal abnormalities increases if mothers age is more than 35 years. It is the most common female chromosomal abnormality, occurring in approximately 1 in 1,000 female births. Triple a syndrome or aaa syndrome, is a rare autosomal recessive congenital disorder. After excluding as candidate genes for triple a syndrome those for acth receptor, vasoactive intestinal peptide, vip1 receptor, pituitary adenylate cyclase activating peptide, and neurotrophin3, weber et al. Allgroves syndrome is an autosomal recessive disorder with varied presentations. See 200400 for a familial form of isolated achalasia. Syndrome pop culture when innocent heroworship goes unrequited, the consequences can be dire for both the admirer and the admired. The specific causes for the increased mortality rates are described below.
Linkage of the gene for the triple a syndrome to chromosome 12q near the type ii keratin gene cluster. 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. Triple a syndrome is caused by mutations in aaas, a new wdrepeat protein gene. The syndrome was first identified by jeremy allgrove and colleagues in 1978. Triple x syndrome or oor orr ttrisomy x trriissoommyy xx triple x syndrome trisomy x is a genetic condition that only affects females.
The pattern and severity of neurologic and autonomic dysfunction in triple a syndrome is quite variable, including hyperreflexia, impaired visual evoked potentials, optic nerve atrophy, anisocoria unequal pupil size, abnormal sweating, postural orthostatic hypotension with compensatory tachycardia, muscle weakness, ataxia, parkinsonism, and. Links to pubmed are also available for selected references. Girls and women with triple x syndrome have an extra x chromosome. A syndrome is not equivalent to a disease as a nosologic form, since the causes of a syndrome may be different. Triplex syndrome is listed as a rare disease by the office of rare diseases ord of the national institutes of health nih. Triple x syndrome can be diagnosed before the baby is born, through chorionic villus sampling cvs or amniocentesis, and a blood test after she. Two patients had achalasia, alacrima and adrenocortical. Triple a syndrome is caused by mutations in aaas, a new wd. Prevalence of the triple x syndrome in phenotypically. Triplea syndrome has an autosomal recessive mode of inheritance, thus causing a 25% recurrence risk for parents with an affected child. This syndrome stems from mutations of the aaas gene on chromosome 12q leading which codes for the aladin nuclear pore scaffolding protein.
Triple xxx syndrome article about triple xxx syndrome by. Other symptoms can include problems with spoken language and processing spoken words, coordination problems, and weaker muscles. Triple a syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated. Autism in association with triple x syndrome springerlink. Most people with triple a syndrome have all three of these features, although some have only two. Triple x syndrome the triple x syndrome with premature ovarian failure was. The nuclear pore complex protein aladin is mislocalized in. 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. In most patients with triple a syndrome the cause of the disorder is the presence of an inactivating homozygous or compound heterozygous point mutation, deletion or insertion of one or several base pairs across the entire coding sequence or in the splice site region of the aaas gene patt et al. It is a neglected disease, commonly manifesting with the triad of adrenal insufficiency, achalasia of the esophageal cardia and alacrima aaa. The syndrome involves achalasia, addisonianism adrenal insufficiency of primary type, and alacrima insufficiency of tears.
This rare autosomal recessive disorder has been linked with mutations in the aaas achalasiaaddisonianismalacrima syndrome gene. 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. Clinical and genetic characterisation of a series of patients. Full text is available as a scanned copy of the original print version. Most people have 46 chromosomes, made up of tightly coiled dna along which are the genes that instruct the body to develop and work properly. Triple x syndrome diagnosis and treatment mayo clinic. The syndrome may be associated with autoimmune thyroid disorder and poor pregnancy outcome due to congenital malformation. It can lead to severe feeding difficulties and low blood sugar hypoglycemia. Mortality is increased in all major sexchromosome abnormalities 31,33,34,3843, with hazard rates or standardized mortality rates ranging from 1. The association of adrenal and neurologic disease in the triplea syndrome is similar to that in xlinked adrenoleukodystrophy. Females normally have two x chromosomes in all cells one x chromosome from each parent. The condition often remains undiagnosed until adulthood when the genetic defect is discovered on investigation for other. Triple xxx syndrome definition of triple xxx syndrome by. Aaa syndrome, case report of a rare disease ncbi nih.
In addition to genetic testing, genetic counseling can help you gain comprehensive information about triple x syndrome. Triple x syndrome is listed as a rare disease by the office of rare diseases ord of the national institutes of health nih. Homozygous deletion of the entire aaas gene in a triple a. Triple x syndrome is a genetic condition found in females only. The syndrome is associated with variable and progressive neurological impairment involving the central, peripheral and autonomic nervous systems, suggesting.
Triple a syndrome is a human autosomal recessive disorder characterized by an unusual array of tissuespecific defects. Triple a or allgrove syndrome is a rare diagnosis characterized by autosomal recessive inheritance with symptoms of acthresistant adrenal insufficiency, alacrima, and achalasia. In triple x syndrome, a female has three x chromosomes. Although females with this condition may be taller than average, this chromosomal change typically causes no unusual physical features. Two larger alterations within the gene responsible for triple a syndrome have. 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. 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. Jun 11, 2018 triple x syndrome, also referred to as 47, xxx or trisomy x, is a condition that is characterized by the presence of an additional x chromosome in each of a females cells. Pdf autism in association with triple x syndrome nollaig. The major components of the this disease which has a hereditarily. In contrast to other trisomies, triple x syndrome does not have a. In 1978, allgrove and colleagues described two unrelated pairs of siblings with isolated glucocorticoid deficiency and achalasia of the.
Several authors published descriptions of a more global autonomic disturbance associated with the original three. Triple a syndrome or allgroves syndrome is a rare autosomal recessive disorder usually manifested with three main clinical features, i. Incredibles wannabe sidekick turned bad guy, from the incredibles 2004. Enable javascript to view the expandcollapse boxes. In most patients, the symptomatic skin is abnormally cold. We document the case of a girl with triple x syndrome who. 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.
Triple a syndrome allgrove syndrome is an autosomal recessive disorder characterized by adrenal insufficiency, alacrima, achalasia, and occasionally autonomic instability. The triple a syndrome, also known as allgrove syndrome mim 231550, is characterized by the clinical triad of adrenocorticotropic hormone acthresistant adrenal failure, achalasia of the cardia and alacrima. 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. The first published report of a woman with a 47,xxx karyotype was by patricia a. We are reporting a case of 20 years old female who presented with dysphagia and dryness of eyes to general medicine outpatient department. Triple x syndrome, also known as 47, xxx, triple x, triplox, or trisomy x is a sex chromosome aneuploidy, or chromosome abnormality, in which females have an additional x chromosome. Mutations in the aaas gene on chromosome 12q encoding the nuclear pore protein aladin have been reported in these patients. Girls with triple x syndrome also known as xxx syndrome, trisomy x, and 47,xxx, might be taller than other girls. Pdf triple a syndrome is a rarely seen autosomal recessive disease characterized by achalasia, adrenal failure and alacrima. Full text full text is available as a scanned copy of the original print version. Triple x syndrome, also referred to as 47, xxx or trisomy x, is a condition that is characterized by the presence of an additional x chromosome in each of a females cells. Triple x syndrome japan pdf ppt case reports symptoms. Triple a syndrome definition of triple a syndrome by.
1096 754 1061 1453 1327 1486 1060 1086 1204 340 568 215 437 234 689 935 1527 1532 848 389 754 1158 159 1388 1316 1421 106 428 30 1151 1278 15 865 372 1117 1470 1209