The clinical course of trisomy X syndrome is variable, with many girls and women being asymptomatic from birth and throughout childhood [1] [2]. This may be one of the reasons why estimates suggest that only 10% of individuals having this mutation are clinically diagnosed [2]. However, numerous features are encountered in different age periods [1] [2] [3] [4]:

• Physical changes - Many neonates exhibit a lower birth weight than normal, accompanied by a normal or reduced head circumference [3]. On the other hand, increased height that is noted from birth, and accelerated growth throughout childhood and puberty, is one of the most common symptoms encountered in trisomy X syndrome [1] [2] [3]. Additional findings include the presence of epicanthal folds, hypertelorism, pes planus, pectus excavatum, clinodactyly and mandibular defects (prognathism and retrognathism) in rare cases [2] [3]. Hypotonia, as a result of mildly affected motor development, is also an important finding.
• Sexual and reproductive phenomena - Most patients have a normal pubertal development, but either precocious or delayed puberty, as well as recurrent miscarriages, ovarian or uterine dysgenesis and premature ovarian failure (POF), have been documented [1] [2].
• Cognitive and intellectual abnormalities - A variable degree of intellectual impairment, in addition to tall stature, is another key feature of trisomy X syndrome. Both verbal and performance IQ can be reduced in older children and teenage girls [3]. Difficulties in language skills are encountered as well [3]. In fact, children who experience learning difficulties, often require special education and early recognition of the disorder may significantly aid in reducing the IQ deficit [3].
• Psychological symptoms - Attention deficit accompanied by anxiety, mood changes, various adjustment disorders, and even psychotic disorders distinguished by paranoia are not uncommon, while social immaturity due to cognitive and intellectual impairment often leads to difficulties in forming relationships, irritability, and even aggression.

It is important to mention that structural organ abnormalities of the kidney (unilateral kidney and renal dysplasia) and the heart (atrial or ventricular septal defects, coarctation of the aorta and pulmonic stenosis) have been observed in a small, but a significant portion of patients [2] [3].

• Developmental Delay

  This would help ensure that any developmental delays or learning disabilities that may occur receive prompt treatment. [pharmacypedia.org]

  If any developmental delays, learning disabilities or health problems occur, prompt treatment can be provided. Early intervention services. [drugs.com]

  Developmental delays and behavioral problems are also possible, but these characteristics vary widely among affected girls and women. Most females with triple X syndrome have normal sexual development and are able to conceive children. [humpath.com]

  The developmental delays can sometimes lead to problems in school and difficulty with friendships and social functioning. [disability-benefits-help.org]

  What i know is that its supposed to affect about 1 in 1000 women and can go virtually undetected but can result in symptoms like increased height, higher chance of seizures / kidney problems, and possibility of developmental delays in speech etc. [rollercoaster.ie]

• Infertility

  Sometimes the syndrome causes menstrual irregularities and infertility. However, some women with triple X syndrome have given birth to physically normal children who have normal chromosomes. [merckmanuals.com]

  Introvert Enamel Hypoplasia Kyphosis Small mandible Low weight in comparison with their height Lordosis Mental retardation Ovarian failure Posteriorly rotated ears Weak muscle tone Menstrual irregularities Having difficulty with interpersonal relationships Infertility [syndromespedia.com]

  It does not always cause symptoms but sometimes it can result in certain physical characteristics/problems, such as taller than average height, a small head, poor motor skills, learning disabilities or behavioral problems and infertility. [healthpedian.org]

  This could mean that it inhibits Jennie's ability to develop physically (causing her to be short or infertile or to have issues with heart or immune system functions) and her ability to develop psychologically (causing her to have a learning disability [study.com]

  Delayed motor skills, such as sitting and walking Problems processing sound Behavioral and emotional problems, including attention deficit hyperactivity disorder (ADHD), anxiety, and depression Premature ovarian failure or ovary malformations (though infertility [everydayhealth.com]

• Pain

  We ask about general symptoms (anxious mood, depressed mood, fatigue, pain, and stress) regardless of condition. Last updated: January 31, 2019 [patientslikeme.com]

  If the child has any physical symptoms, including abdominal pain, the child’s ability to move about or manipulate objects could also be effected. [disabilitysecrets.com]

  […] include presence of extra skin fold covering the inner part of the eyes (epicanthal folds), weak, flaccid muscle due to poor muscle tone, small size of head in contrast to whole body size, sideways bending of the back bone (scoliosis), constipation and pain [phaa.com]

  We already lost our LO so didn't have to make any painful decisions. [babyandbump.momtastic.com]

  […] sound Behavioral and emotional problems, including attention deficit hyperactivity disorder (ADHD), anxiety, and depression Premature ovarian failure or ovary malformations (though infertility is rare) Menstrual irregularities Constipation or abdominal pains [everydayhealth.com]

• Short Stature

  Estimated Incidence of Triple X Syndrome: 1 in 1,000 (females) REFERENCES Li M, Zou C, Zhao Z. (2012) Triple x syndrome with short stature: case report and literature review. Iran J Pediatr. 22: 269-273. [evolvegene.com]

  Physical symptoms of Turner syndrome include short stature, wide neck, unusually short fingers and toes, small jaw, fertility issues, and arms that turn outward at the elbows, among others. [study.com]

  The most common feature of Turner syndrome is short stature, which becomes evident by about age 5. An early loss of ovarian function is also very common. [igeneprenataltest.com]

• Atrial Septal Defect

  With that being said, more than half of babies with mosaic trisomy 16 will have fetal abnormalities, including musculoskeletal defects, distinctive facial features, undersized lungs, and an atrial septal defect (a hole between the upper chambers of the [verywell.com]

The diagnosis of trisomy X syndrome can be difficult to make if symptoms are mild or even absent, which is commonly the case. However, the physician must develop clinical suspicion toward this frequently undiagnosed syndrome in the setting of tall stature that is not supported by parental height, intellectual or psychosocial symptoms, and the presence of other typical features. For this reason, a detailed patient history, and physical examination are the most important parts of workup that will enable the physician to make a presumptive diagnosis. Increased maternal age (estimated around 33 years) is commonly observed in children who subsequently develop trisomy X syndrome, and further information regarding birth weight, as well as growth and development of girls throughout childhood by parents can be of essential importance [3]. Because several genitourinary and cardiac structural diseases have been diagnosed in trisomy X patients, ultrasonography of the abdomen and heart, respectively, should be performed. Moreover, magnetic resonance imaging (MRI) of the brain and electroencephalography (EEG) are recommended during workup, but apart from a reduced brain volume, they yield normal findings in virtually all patients [2] [3]. Genetic studies are necessary to make the diagnosis [1]. Analysis of the karyotype in cells will show an additional X chromosome, and the same finding can be identified prenatally when chorionic villus sampling (CVS) or amniocentesis can detect changes in the number of chromosomes [1] [2].

• Karyotype Abnormal

  Triple X can be diagnosed by a blood test which is able to look at a person’s chromosomes (karyotype). Abnormalities on the electroencephalography may be present. [reliawire.com]

Treatment There is no specific treatment for triple X syndrome; many doctors do not consider it a major disability. [encyclopedia.com]

Treatment Options for Triple X Syndrome There is no treatment for triple X syndrome itself because it’s not possible to remove the “spare” X chromosome. [healthpedian.org]

Depending on which symptoms a girl has and how severe they are, doctors may recommend various treatments. What Causes Triple X Syndrome? Girls who have triple X syndrome are born with it. [m.kidshealth.org]

TRIPLE X SYNDROME TREATMENT Treatment for Triple X Syndrome is symptomatic depending on the features of an individual. [evolvegene.com]

The prognosis of persons diagnosed with triple x syndrome is good if they have parents who support them and love them unconditionally. [syndromespedia.com]

ADHD) Weak muscle tone Anxiety or mood disorders Normal sexual development TRIPLE X SYNDROME PROGNOSIS Triple X Syndrome has a favorable prognosis. Most individuals with Triple X Syndrome have mild features of the disorder. [evolvegene.com]

Prognosis The prognosis for girls with triple X syndrome is generally good, particularly if their parents are loving and supportive. They are not at increased risk of other diseases as far as is known and have a normal life expectancy. [encyclopedia.com]

[…] the condition, then genetic counseling will help assess risks, before planning for a child Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders What is the Prognosis [dovemed.com]

Each chapter addresses signs and symptoms (including onset and developmental course); epidemiology and etiology (including known genetic and environmental contributors, biological mechanisms and relevant animal models); diagnostic criteria; differential [books.google.de]

(Etiology) Normally, the female sex has XX chromosome, with a single X chromosome being obtained from each parent. [dovemed.com]

Each chapter addresses signs and symptoms (including onset and developmental course); epidemiology and etiology (including known genetic and environmental contributors, biological mechanisms and relevant animal models); diagnostic criteria; differential [books.google.de]

Pathophysiology Cognitive, behavioral, and neuropsychological difficulties characterize the syndrome. [1] These signs are especially important in alerting physicians, parents, and teachers to deficits exhibited by preschool-aged children and elementary [emedicine.medscape.com]

Your Trisomy X Syndrome Disability Case If you are disabled because of Trisomy X Syndrome that is so severe it prevents you from working, you may well be entitled to Social Security Disability benefits. [disability-benefits-help.org]

The SSA awards disability benefits to help people whose medical impairments prevent them from working. To speed up their evaluation process, the SSA maintains a list of the medical conditions it considers disabling. [socialsecuritylawcenter.info]

Prevention of Triple X Syndrome Since triple X syndrome is caused by a random chromosomal abnormality, it is not possible to prevent it. [healthpedian.org]

Assistance and support: If the patient is suffering from slow development due to this syndrome, then she should be provided with assistance and support to carry out daily activities. 7 Prevention No preventive measure are available for triple X syndrome [findatopdoc.com]

1. Afshan A. Triple X syndrome. J Pak Med Assoc. 2012;62(4):392-394.
2. Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L. A review of trisomy X (47,XXX). Orphanet J Rare Dis. 2010;5:8.
3. Otter M, Schrander-Stumpel CT, Curfs LM. Triple X syndrome: a review of the literature. Eur J Hum Genet. 2010;18(3):265-271.
4. Otter M, Schrander-Stumpel CT, Didden R, Curfs LMG. The psychiatric phenotype in triple X syndrome: New hypotheses illustrated in two cases. Dev Neurorehabil. 2012;15(3):233-238.