47,XXY

47,XXY, also referred to as Klinefelter syndrome, is a common chromosomal disorder.  Rather than the usual pattern of 46 chromosomes, with one X chromosome and one Y chromosome, there is an additional X chromosome, resulting in a genetic signature of 47,XXY.  This happens when paired chromosomes fail to separate at the first or second stage of meiosis.  The exact cause is unknown.  The extra chromosome can come from either parent; there is little relation to either maternal or paternal age.  An extra chromosome in a pair (i.e. the X and Y chromosomes) is called a trisomy.  47,XXY, unlike most trisomy conditions, is highly survivable for the fetus and causes symptoms that vary greatly from one person to another. An extra or missing sex chromosome is called sex chromosome aneuploidy. This is a spectrum condition, so for some individuals, 47,XXY is mild and barely noticeable, while in others, there are more noticeable effects.

It should be emphasized that most XXYs have some, but not all, of the symptoms of the condition, and that symptoms vary greatly from one individual to another. Klinefelter syndrome is a term to describe a bundle of symptoms often associated with 47,XXY. One of the most fundamental and prevalent symptoms of 47,XXY is hypogonadism. In XXYs, hypogonadism manifests as small, firm testes, infertility, and inadequate levels of testosterone. Hypogonadism can also lead to delayed or incomplete puberty, sparse facial and body hair, female pattern body-fat distribution, gynecomastia (breast development, long limbs and poor coordination. A small number of individuals may have a micro-penis, which can be partially corrected with testosterone therapy at “mini-puberty” as a toddler. Untreated, hypogonadism can also contribute to problems with concentration, mood swings and other emotional and behavioral difficulties. It can also lead to a number of other conditions, such as osteoporosis, that can be prevented with testosterone hormone replacement therapy (HRT).

Numerous other symptoms can be associated with 47, XXY and its related variations. Many individuals exhibit several of these, but each person is different.  Other symptoms may include:

Pre Puberty Post Puberty
Speech/Language Difficulties Low muscle tone (hypotonia) Gender identity issues
Autism Spectrum Disorders or Asperger’s Syndrome Pervasive Developmental Disorders Low testosterone levels
ADD/ADHD Sensory Integration Problems Stalled Puberty
Learning Disabilities Impulse Control Difficulties Autoimmune Disorders
Obsessive Compulsive Disorder Poor Social Skills and Delayed Social Development
Infertility
Anxiety Low Self Esteem Osteoporosis
Depression Immaturity Ineffective coping strategies
Shyness Taurodontism Depression
Clinodactyly Pectus excavatum Diabetes
Radio-Ulnar Synostosis Hypospadias Difficulty with interpreting or reacting to social cues
Micro-Penis (Rare) Torticolis Difficulty with expressing emotions
Cryptorchidism Low energy Challenges with employment

Because the condition is characterized by an extra chromosome, cells must be obtained, prepared and observed to count the extra chromosome. Generally, a specialized blood test called karyotyping (a karyotype), FISH (fluorescence in situ hybridization), or microarray analysis is performed to look for chromosomal differences.

Many people have test while pregnant. See the prenatal testing page on this website. https://genetic.org/im-pregnant-genetic-testing-questions/prenatal-testing/

Studies have found between 1 in 500 and 1 in 800 males are XXY. A large-scale genetic screening of over 40,000 newborns in Denver demonstrated a rate of approximately 1 per 600 male births.  Longitudinal population studies in the Netherlands have confirmed these estimates. 47,XXY is more common than Down Syndrome. It is estimated that only 35% of all individuals with XXY are ever diagnosed, due in part to the subtle and varying physical and psychological symptoms, and in part to a lack of training in medical schools about sex chromosome aneuploidies and their diagnosis and treatment.

In general, yes, but with notable exceptions:

  • Individuals with XXY/XY mosaicism may produce enough viable sperm to be biological fathers without requiring infertility treatment.
  • Medical reproductive technology advances allow many XXYs to become biological fathers.  Please download this AXYS Consensus Paper: Fertility Guidelines for Klinefelter Syndrome
  • Time is of the essence for those with XXY who are considering reproductive therapies. Hormone replacement therapy must be managed very carefully to avoid total suppression of sperm production, and the availability of viable sperm declines rapidly with age. Parents of adolescents are advised to explore fertility questions with a qualified fertility clinic soon after puberty.
  • Many XXYs become parents via adoption, donor sperm and other techniques commonly employed by other families who face fertility challenges

It’s also important to note that most people with XXY are capable of having a normal, satisfying sex life.

Babies born with 47,XXY rarely have any obvious physical differences, which is the reason that so few children are diagnosed soon after birth. However, a baby may have very low muscle tone (hypotonia), or (rarely) an extremely small penis (micro-penis) that may cause a pediatrician to suspect a genetic problem.

Children with 47,XXY may be language-delayed and have poor muscle tone, leading to poor fine and gross motor skills. They may be shy and very hesitant about any new experiences, such as pre-school or trying new foods. They can seem immature by comparison with other children their age, and their limited verbal skills may contribute to difficulty in play situations.

Many children with XXY have poor impulse control and attention deficits, which may be diagnosed as attention deficit disorder or attention deficit hyperactivity disorder (ADD or ADHD). Children with XXY can be misdiagnosed with Asperger syndrome or pervasive developmental disorder. This is because many exhibit social skill deficits, poor verbal abilities, shyness to the point of avoiding eye contact, and rigidity and inflexibility in their play patterns (i.e. insisting on lining up all car and truck toys, and becoming upset when the toys are disturbed). They may have difficulty in interactions with other children and adults. 47,XXY is not an autism spectrum disorder, even though there appears to be significant overlap of symptoms.

Children who have XXY may need special supports in school, including the protections of an IEP or 504 Plan. They may also benefit from a teacher’s aide, protection from bullying and special accommodations such as  “self-imposed time outs.” A developmental pediatrician or geneticist will often recognize the subtle physical signs of 47,XXY in a child initially diagnosed with learning disabilities, ADHD, and/or an autism spectrum disorder, leading to genetic testing and a more complete diagnosis. Small testes, a smaller-than-average penis, hypospadius (urethra located on the shaft of the penis) or chryptorchidism  (undescended testicle) are included in these physical signs. Other signs include an arm span measure that is greater than the child’s height, and a significant acceleration in height percentile around the age of 6 or 7 years.

Another body disproportion that may be present is leg length (foot to waist) that exceeds head-to-seat measurement. They may have clinodactyly (slightly curved fifth finger), pectus excavatum (a depression in the chest over the sternum), radio-ulnar synostosis (inability to completely straighten the elbow joint), or taurodontism (relatively thin enamel on the tooth with a large, pulpy root area). For adolescents ages 13 or over, failure to begin puberty or to progress through puberty completely may alert the pediatrician to consider and test for 47,XXY.

Early intervention appears to be very effective in reducing delays in development of both motor skills and language. Children who are diagnosed prenatally or in infancy may begin receiving services within the first year if they show early delays in motor skill acquisition. For children who have not been diagnosed, families may be wrongly reassured that “He will catch up—boys are slower.” Children who are not meeting speech, motor and social developmental milestones on pediatric screening instruments need to be evaluated further by a developmental pediatrician or at a child development center. Parents are encouraged to insist on evaluation where development is progressing slowly because these children rarely “catch up” without intervention services.

Many individuals with XXY benefit from supplemental testosterone.

In all infants there is an initial spike of testosterone called mini puberty that infants with 47,XXY may not experience. Research is being conducted to see if infants with 47, XXY benefit from testosterone supplementation, especially if the baby has a very small penis.

After the infancy spike in testosterone production, virtually no testosterone is produced again until the start of puberty at the age of 9 to 11.

Individuals from puberty onward often require supplemental testosterone because their bodies make insufficient hormone to help them develop male secondary sex characteristics such as facial hair, a deep voice, and male pattern muscle and fat distribution. Those who identify as another gender are encouraged to seek the guidance of an endocrinologist to mitigate the risks of low testosterone. Testosterone, however, does not correct infertility.

Testosterone may also be needed to help increase and maintain bone density at normal levels, to create sexual desire and capacity for erections, and to build muscle mass. Individuals whose testosterone levels are low may feel fatigued, anxious and depressed. Testosterone treatment is a very individualized therapy, so the doctor will monitor blood testosterone levels and the patient’s reports of well-being to adjust the dosage properly.

Children who are reaching adolescence should be evaluated by a pediatric endocrinologist who can determine when hormone therapy should begin. This is generally between the ages of 9 and 13, depending on bone development and blood tests. Watch these videos on the AXYS YouTube channel to learn more.

Many with 47,XXY benefit from occupational, physical and speech therapy as well as counseling and social skills training. Special education accommodations and teaching methods can help achieve academic success despite learning disabilities. An increasing number of colleges and vocational schools have instituted programs to help those with learning disabilities to obtain degrees and credentials necessary for careers. Parents are encouraged to explore the benefits and protections afforded by an IEP or 504 plan. Please see the Education and Schooling section of this website.

Watch these videos for more information

Testosterone Replacement Therapy in Adolescents and Adults with Dr. Darius Paduch presenting

Androgen Therapy for Male Adolescents with Dr. Alan Rogol

There is current research that indicates some individuals with 47,XXY may experience delayed maturation relative to brain development associated with executive decision-making. This may be more prevalent with individuals who are not diagnosed at an early age and do not receive testosterone hormone replacement therapy. Anecdotal reports indicate there may be a 5+ year delay between chronological age and maturational age for many of these individuals, which can be very difficult to diagnose or measure objectively. It is a well-known fact that teenagers in general can demonstrate very poor decision-making with respect to risk-taking behavior, suggesting that those with XXYs may benefit from strong guidance and careful parenting for longer periods (i.e., into their late teens and 20s) to prevent serious legal and social problems. For those with tall stature, society may be slow to recognize this immaturity and fail to make needed accommodations.

AXYS celebrates the diversity of the human family; including sex and gender, skin color, ethnicity, religion, sexual orientation, gender identity, age, socioeconomic status, physical characteristics, and mental abilities. While the majority of individuals with 47,XXY we serve identify as male, a minority identifies as “intersex” or another gender. Many also consider themselves as “being XXY” rather than “having XXY.” Out of respect for these individuals, we have attempted to minimize gender references, and, where practical, we have called individuals XXYs and stated that they “are XXY.”

Among the more common medical issues seen in XXYs are osteoporosis, a thinning of the bones making fractures more likely, and autoimmune disorders such as rheumatoid arthritis, lupus, and Type 1 diabetes. Particularly those who have not had testosterone supplementation may suffer from venous ulcers. Thyroid disorders are also more common than usual. Those with XXY are more likely to suffer from seizures.  There is some suggestion they are also more likely to suffer from mood disorders, including depression and bipolar disorder, than the population as a whole, although this has not yet been studied rigorously enough to quantify.

Since most of those with XXY are never diagnosed, it is hard to determine how common health related conditions are in this population as a whole.

Gynecomastia is the development of breast tissue. In those with XXY, this is related to hypogonadism. Most males with XXY develop some gynecomastia in adolescence that resolves in the mid-teens. In some, the breast development is pronounced and becomes both embarrassing and uncomfortable. Approximately one-third continue to suffer from significant gynecomastia after adolescence. Many opt for surgery to remove the excess breast tissue and create a normal male chest profile. Gynecomastia slightly increases the risk of breast cancer from less than 1 % for the male population overall to 3.7%.  All those with XXY should perform regular breast exams to detect any nodules. Mammograms are not medically indicated for individuals with XXY unless a physician orders one to check an unusual finding in a breast exam.

There are no current systematic studies of unusual talents and skills in those with XXY. Anecdotal information from conferences and websites suggests they enjoy math, computers, chess, music and art, and that many excel in these areas professionally. Various magnetic resonance imaging (MRI) studies support this point. A large multi-year study of over 40 children at the National Institutes of Health showed that the volume of gray matter on the right side of the brain (the part controlling spatial abilities and computational skills), was larger for children with XXY than for control subjects. Those with XXY may use this strength to compensate for the slightly smaller than average volumes of the left half of their brains, which control language functions and social skills, and which may explain deficits in these areas.

With children who are diagnosed prenatally or as young children, it is best to begin short, simple explanations at about age 5 or 6. You can explain that every cell in the body has “messages” to tell the body how to grow, and that the extra X sends some extra messages that are difficult for the body to understand. This may also help  explain the need for extra help in the resource room at school, or for medication to help with attention. Later, during visits to an endocrinologist, you can provide more detailed explanations about the need to take testosterone supplementation.

47,XXY should never be kept a secret. Your child may well sense when you are withholding. When it’s time to learn about sexuality and reproduction, you can introduce the issue of lowered fertility and the need for infertility treatment, donated sperm or adoption to create a family later in life.

Watch these videos from the AXYS YouTube channel on Disclosing the Diagnosis to learn more.

Those who are mosaic have some cells with 47, XXY and others with a different genetic signature, such as XY. The term “mosaic” is used because the cells with different numbers of chromosomes “nest” together in a mosaic pattern, much like tiles on a floor or wall.

47,XYY

47,XYY is estimated to occur in 1 out of 1000 males. Rather than the usual male pattern of 46 chromosomes, with one X chromosome (from the egg) and one Y chromosome (from the sperm) there is an additional Y chromosome, resulting in a genetic signature of 47,XYY. This happens when paired chromosomes fail to separate during meiosis in creating a sperm with an extra Y chromosome, or after fertilization during mitosis, when the cells divide in the embryo. The exact cause is unknown. An extra chromosome in a pair (i.e. the X and Y chromosomes) is called a trisomy. 47,XYY and the other trisomy sex chromosome aneuploid conditions (47,XXY and Trisomy X), unlike most trisomy conditions such as Down syndrome, are highly survivable for the fetus, rarely cause severe disability, and can have symptoms that vary greatly from one person to another. An extra or missing sex chromosome yields a syndrome called sex chromosome aneuploidy. A syndrome is a collection of symptoms and physical signs. In some males, the manifestations of 47,XYY are mild and barely noticeable while in others there are much more severe symptoms.

Because the condition is characterized by an extra chromosome, cells must be obtained, prepared and observed to count the extra chromosome. Generally, a specialized blood test called karyotyping (a karyotype), FISH (fluorescence in situ hybridization), or microarray analysis is performed to look for chromosomal differences.

Many people test while pregnant. See the prenatal testing page on this website. https://genetic.org/im-pregnant-genetic-testing-questions/prenatal-testing/

Large-scale genetic screening studies of newborns have been used to estimate a rate of approximately 1 per 1000 male births. However, it is estimated that only 12 percent of all males with 47,XYY are ever diagnosed, due in part to the subtle and varying physical and psychological symptoms, and in part to a lack of training in medical schools and other graduate programs about XYY diagnosis and treatment. Many are diagnosed prenatally.

It should be emphasized that most with 47,XYY have some, but not all, of the symptoms and that both symptoms and severity vary greatly from one individual to another. Most people with 47,XYY are completely unaware of the extra chromosome. On the other hand, up to 30% of children with 47,XYY will be diagnosed with autism spectrum disorder. They may also suffer from delayed speech as children and have continuing difficulties with verbal expression as adults. Hypotonia, or low muscle tone, and delay in achieving motor skill milestones such as walking independently or holding a crayon to color, may occur. While most with 47,XYY will have intelligence in the normal range, many have language-based and other learning disabilities. A small number will have mild intellectual disability. Other possible problems include social skill disabilities, immaturity, low self-esteem, ADHD, impulsivity, and anxiety or mood disorders. Many with 47,XYY are very tall, but this is not always the case. In adolescents, severe acne may be a problem.

A mosaic cell line means that a man has one cell line with 46 chromosomes, for instance, including one X and one Y chromosome, as well as a second cell line with one X and two Y chromosomes. This genetic signature would be written as 46,XY/47,XYY. The term “mosaic” is used because the cells with different numbers of chromosomes “nest” together in a mosaic pattern, much like tiles on a floor or wall.

XYYs have normal fertility. The chances of passing the extra Y chromosome on to offspring is remote, although there are some reports. Those with 47,XYY may wish to speak with a genetic counselor when contemplating pregnancy.

Babies with 47,XYY rarely have any physical differences that are detectable, which is the reason that so few children are diagnosed soon after birth. However, a baby may have very low muscle tone (hypotonia) and later in the first year of life the parents or pediatrician may detect that they are slow to meet developmental milestones such as walking or babbling. At that point, delays could become cause for concern and a referral to early intervention.

47,XYY is characterized by great variation in how symptoms may appear. Many will be language-delayed, and some will have poor fine and gross motor skills. Children with 47,XYY can seem immature by comparison with other children their age, and their more limited verbal skills may contribute to difficulty in play situations. Some children with 47,XYY have attention deficits which may be diagnosed as attention deficit disorder or attention deficit hyperactivity disorder (ADD or ADHD). They can also demonstrate rigidity and inflexibility in their play patterns as well as interactions with other children and adults. Up to 30% may be diagnosed with autism spectrum disorder or Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS) . About two-thirds of children with XYY will have language-based learning disabilities that require some special education services. They are also more likely than their peers to have anxiety or mood disorders.

A developmental pediatrician or geneticist may recognize the subtle physical signs of 47,XYY in a child initially diagnosed with learning disabilities, as well as language and motor skill delays, leading to genetic testing and a more complete diagnosis. Boys with 47,XYY are often significantly taller than siblings or peers, and may have physical signs such as an arm span measure that is greater than her height, or a significant acceleration in height percentile around the age of 6 or 7 years. Another body disproportion that may be present is leg length (foot to waist) that exceeds head to seat measurement.

Early intervention appears to be very effective in reducing delays in development of both motor skills and language in those with 47,XYY. Children may begin receiving services within the first year if they show early delays in motor skill acquisition. Children who are not meeting speech, motor and social developmental milestones on pediatric screening instruments need to be evaluated further by a developmental pediatrician or a child development center.

There are no specific treatments for 47,XYY, although if there are symptoms, various interventions are recommended. Speech and motor skill difficulties respond to therapy. Anxiety and mood disorders or ADHD can be treated with individual or family therapy, behavioral therapy, work with an occupational therapist, and sometimes, appropriate medication. Special education accommodations and teaching methods can help those with learning disabilities. An increasing number of colleges and vocational schools have instituted programs to help those with learning disabilities to obtain degrees and credentials necessary for careers.

There are few health risks associated with 47,XYY, except for the tendency of very severe acne in adolescence that may cause scarring. Mood disorders, including depression and bipolar disorder, appear to be more common among those with 47,XYY than in the population as a whole, although this has not yet been studied rigorously enough to quantify. Occasionally, an adolescent or an adult with 47,XYY experiences testicular failure, but this is rare.

With boys who are diagnosed prenatally or as young children, it is best to begin short, simple explanations at about age 5 or 6. You can explain that every cell in his body has “messages” to tell his body how to grow, and that he has some extra messages, which may help to explain his need for speech therapy or resource room.  Later, you can provide more detailed explanations about the extra chromosome. 47,XYY should never be kept a secret even if it causes few symptoms; the child may sense there is something that his parent is withholding from him. Reassure him that the condition is surprisingly common and that while he may have learning or other disabilities, he does not have a disease.

Watch these videos from the AXYS YouTube channel on Disclosing the Diagnosis to learn more.

47,XXX

Trisomy X, also known as 47,XXX, is estimated to occur in 1 out of 1000 females. Rather than the usual female pattern of 46 chromosomes with two X chromosomes, there is an additional X chromosome, resulting in a genetic signature of 47,XXX. The exact cause is unknown. The extra chromosome can come from either the egg or the sperm although in Trisomy X, it is more likely to be contributed by the egg. An extra chromosome in a pair (i.e. the X and Y chromosomes) is called a trisomy. There is some relationship to advanced maternal age, although it is not nearly as strong as in Down syndrome, which is also a trisomy condition involving chromosome 21. Unlike most trisomy conditions, Trisomy X is highly survivable for the fetus and symptoms that vary greatly from one person to another.

Because the condition is characterized by an extra chromosome, cells must be obtained, prepared and observed to count the extra chromosome.  Generally, a specialized blood test called karyotyping (a karyotype)FISH (fluorescence in situ hybridization), or microarray analysis is performed to look for chromosomal differences.

Many people test while pregnant. See the prenatal testing page on this website. https://genetic.org/im-pregnant-genetic-testing-questions/prenatal-testing/

Large-scale genetic screening studies of newborns have been used to estimate a rate of approximately 1 per 1000 female births. However, it is estimated that only 15 percent of all females with Trisomy X are ever diagnosed, due in part to the subtle and varying symptoms.

It is becoming more common for doctors to suspect Trisomy X if a woman experiences early menopause. Pediatricians may order genetic testing when there are speech delays, learning disabilities or other developmental problems.

Symptoms vary greatly from one individual to another. Some may have delayed speech as children and have continuing difficulties with verbal expression as adults. Hypotonia, or low muscle tone, and delay in achieving motor skill milestones, such as walking independently or holding a crayon to color, may occur. Many have language-based and other learning disabilities. A small number will have mild intellectual disability. Those with Trisomy X report social skill disabilities, immaturity, low self-esteem, and anxiety or mood disorders. Many with Trisomy X are tall, but this is not always the case. for some, there can be premature ovarian failure leading to early menopause. Among the fairly subtle physical signs may be an epicanthal eye fold, or clinodactyly, a curved little finger. Occasionally, females with Trisomy X will also have more severe difficulties such as seizures or genitourinary malformations, and lung issues.

A mosaic cell line means that a woman has one cell line with 46 chromosomes, for instance, including two X chromosomes, as well as a second cell line with a different number of X chromosomes, for instance three X chromosomes. This genetic signature would be written as 46,XX/47,XXX. The term “mosaic” is used because the cells with different numbers of chromosomes “nest” together in a mosaic pattern, much like tiles on a floor or wall. If a female has a large proportion of cells with the typical number of chromosomes, 46, her symptoms may be less marked than someone with non-mosaic Trisomy X. It is also possible to have mosaicism involving 48 and 49 chromosomes, as in 46,XX/47,XXX/48,XXXX. One concern in diagnosing Trisomy X is ruling out mosaicism with a Turner cell line, 45,X/47,XXX. If a woman with Trisomy X has mosaicism with a Turner cell line, she may be at risk of the cardiac and gynecologic anomalies that characterize Turner syndrome.

Trisomy X does not always cause infertility. However, infertility is increasingly a reason for genetic testing, and Trisomy X has been diagnosed during infertility workups. The risk on passing on the extra chromosome to offspring, however, is low: probably less than 5 percent. If, however, the person has mosaicism with a Turner cell line, the risk of passing on an extra (or missing) X chromosome is increased. Those with Trisomy X who are contemplating pregnancy should consult a knowledgeable genetic counselor if they are concerned about this possibility. Premature ovarian failure is seen in adults with Trisomy X.

Babies with Trisomy X rarely have any detectable physical differences, which is the reason that so few children are diagnosed soon after birth. However, a baby may have very low muscle tone (hypotonia), or an epicanthal eye fold, which along with low muscle tone, may cause a pediatrician to suspect a genetic problem, such as Down syndrome, and order genetic testing. Children with Trisomy X may be less active than others, but these signs are rarely noticeable until late in the first year. At that point, delays in motor skills and a perhaps in babbling could become cause for concern.

Trisomy XXX is characterized by great variation in how symptoms may appear among young children as well as those who are school age or adolescent. In many cases, children with Trisomy X may be language delayed, and have poor muscle tone, leading to poor fine and gross motor skills. They may be shy and hesitant about any new experiences, such as pre-school or new foods, and they may be sensitive to loud sounds or clothing textures, and appear to have sensory issues. Children with Trisomy X can seem immature by comparison with other children their age, and their more limited verbal skills may contribute to difficulty in play situations. Some with Trisomy X have attention deficits, which may be diagnosed as attention deficit disorder or attention deficit hyperactivity disorder (ADD or ADHD). They can also demonstrate rigidity and inflexibility in their play patterns as well as interactions with other children and adults, or they can have significant anxiety around particular issues, including starting a new school year or using the toilet. Many girls with have chronic stomach pain and constipation which may be caused by anxiety, or by low muscle tone, or both. Children with Trisomy X are often somewhat taller than siblings or than peers, and may have physical signs such as an arm span measure that is greater than height, or a significant acceleration in height percentile around the age of 6 or 7 years.

Early intervention appears to be very effective in reducing delays in development of both motor skills and language in Trisomy X. Children who are diagnosed prenatally or in infancy may begin receiving services within the first year if they show early delays in motor skill acquisition. Children who are not meeting speech, motor and social developmental milestones on pediatric screening instruments need to be evaluated further by a developmental pediatrician or a child development center.

There are no specific treatments for Trisomy X, although if there are symptoms, various treatments are recommended. Speech and motor skill difficulties respond to therapy. Anxiety and mood disorders can be treated with individual or family therapy, behavioral therapy, work with an occupational therapist, and sometimes, appropriate medication. For stomach pain, a diet rich in fiber, regular exercise, and, if necessary, a mild laxative may help. Special education accommodations  can help with learning disabilities. Trisomy X will often lead to significant anxiety related to school, and a change to a smaller classroom environment or an alternative learning setting, may help. An increasing number of colleges and vocational schools have instituted programs to help those with learning disabilities to obtain degrees and credentials necessary for careers.

Health risks are not common, but it appears that some disorders, such as autoimmune problems (lupus or rheumatoid arthritis) may be seen more often. While rare, seizure disorders, cardiac problems, and genitourinary disorders (i.e. kidney malformations) may be slightly more common. Mood disorders, including depression and bipolar disorder, appear to be much more common among girls and women with Trisomy X than in the population as a whole, although this has not yet been studied rigorously enough to quantify.

This is a complex and personal decision that depends on individual circumstances. With young children, it is generally best to begin short, simple explanations at about age 5 or 6. You can explain that every cell in the body has “messages” to tell the body how to grow, and that she has some extra messages,. Later, you can provide more detailed explanations about the extra chromosome. Trisomy X should never be kept a secret even if it causes few symptoms; the child may sense that there is something that caregivers are withholding from her. Reassurance that Trisomy X is common, and may cause differences.

All Conditions

Before disclosing a diagnosis to relatives, such as grandparents, determine whether they are likely to be supportive and tolerant of a range of learning disabilities and other possible health and behavior problems. It is reasonable to wait with a prenatal diagnosis until some developmental delay presents, and an explanation to grandparents or to siblings is necessary.

A significant factor in disclosure is the need for social benefits and supports.  Individuals with an X or Y variation may benefit from the protections and supports afforded by an IEP or 504 plan in school. In the case of a child with language, physical, learning or behavioral difficulties, disclosing the chromosomal condition to relatives is often reasonable and reassuring to them.

Disclosure to an employer is necessary if the employee is seeking employment through a supported work program or is seeking accommodations under the Americans with Disabilities Act (ADA).  or to obtain US federally-mandated Family and Medical Leave.

Disclosure to the school is only necessary if there are learning or behavior problems that require special education classification, such as an IEP or Section 504 accommodation.

Individuals with 47,XXY fall in love just as other human beings do, and the condition, as any other medical condition, should be discussed at the appropriate time, without obligation to divulge all early in a relationship. If and as a relationship becomes “serious,” disclosure that is accompanied by a thorough education about the condition should take place. Support groups and list-serves can introduce couples to others who have been through building a relationship and a family; this is an occasion on which support from others in the same situation can be very helpful.

Go to our Disclosing the Diagnosis page for caregivers: https://genetic.org/im-parent-affected-child/tell-child-diagnosis/

Social Services Resources

  • Sliding scale Federally Qualified Health Centers
  • Many states have financial assistance programs associated with hospitals and with university academic medicine programs
  • Quest Diagnostics: Quest Diagnostics : Patient Assistance
  • Labcorp has a financial hardship program and a low-cost testing program for those who lack insurance or are under-insured: Patient Billing and Payment Information | Labcorp
  • These programs can also be used for those who need regular testing e.g. testosterone levels
  • The Affordable Care Act prohibits refusal to cover expenses related to sex chromosome aneuploidy or provide medical coverage to these individuals
  • For adults, all states but the following have expanded eligibility for Medicaid to low-income adults: Wyoming, Texas, South Dakota, Wisconsin, Mississippi, Tennessee, Alabama, Georgia, North Carolina, South Carolina, Kansas and Florida.
  • Generally, assets are limited to $2000
  • Contact Your State With Questions | Medicaid
  • States cover children through CHIP programs, which expanded Medicaid to cover uninsured children. Eligibility is not so restricted as for adults
  • For severely disabled children, states have Medicaid waiver programs that will cover children regardless of parent income. Few children with SCA qualify unless they have severe mental illness, seizures, severe autism, intellectual disability, etc.
  • Possible financial assistance for children referred to an ACRC clinic: Grant Eligibility Requirements | UnitedHealthcare Children’s Foundation (uhccf.org)
  • Most states have Parent to Parent and Family Voices programs that can offer information on Early Intervention, special education programs, medical services for children with disabilities, Medicaid and CHIP child insurance coverage, developmental disabilities programs and mental health programs
  • Search by state for the family’s local Parent to Parent office: For Parents – P2P USA
  • Another resource is the State Family-to-Family Resource Center: Affiliate Archive – Family Voices
  • All states have vocational rehabilitation services that will assist people with disabilities in obtaining and keeping employment. These programs are partially funded by Federal grants. Locate offices by state: State Vocational Rehabilitation Agencies | Rehabilitation Services Administration (ed.gov)
  • Warning: Programs are underfunded. Counselors are frequently uninformed about X&Y chromosome variations. Recommend a comprehensive evaluation that details both physical and cognitive/emotional disabilities in order to qualify
  • Only a minority of children and adults with SCA qualify for these services which can include recreation programs, life skills training, supported employment, housing assistance and group home living. Most require enrollment in Medicaid Home and Community Based waiver
  • Many states have waiting lists and fail to understand the multi-system complications of SCA. A comprehensive evaluation at an ACRC clinic is recommended before applying
  • Must search for services by state. Recommend Parent to Parent or Family to Family
  • Start with local chapter of NAMI, National Alliance on Mental Illness: Home | NAMI: National Alliance on Mental Illness which has phone help, local support groups, services and referral centers
  • For suicidal callers, recommend National Suicide Prevention Hotline: 1-800-273-8255
  • Supplemental Security Income (SSI)
  • Social Security Disability Income (SSDI)
  • Approximately 1/3 of adults with SCA have qualified for one of these programs
  • Application process extremely difficult; 60% of applications rejected on first application and required to appeal
  • SCA is not a listed disability; eligibility requires medical evidence of co-morbid conditions that prevent engaging in substantial gainful activity, defined by Social Security as earning at least $1310/month
  • A comprehensive medical and psychological evaluation should be done, preferably by SCA professional with one of the ACRC clinics, and submitted as part of the application. It needs to include professional opinion that the individual meets the Social Security criteria for disability
  • Consider using an attorney or a Social Security advocate to assist with the application
  • For SSI, the individual may have no more that $2000 in his own name
  • Assets over $2000 may be sheltered in a Supplemental Needs Trust, either a pooled trust or individual trust, or an ABLE account
  • More information available on the Social Security website: Supplemental Security Income (SSI) Benefits | Disability Benefits