EHT (babies)

Early Hormonal Treatment (EHT) is treatment for boys with 47,XXY who are between the ages of 4 months and 12 months ideally.

Boys with XXY are believed to deficient in Testosterone throughout their lives based recent research literature. For this reason, supplementation of their hormonal deficiency is necessary and important to normalize their neurodevelopmental progression. Early Hormonal Treatment (EHT) fosters improved brain development, motor skills and behavioral issues. There have been no known side effects in more than 16 years which is very encouraging regarding this treatment.

More recent research has investigated the possible benefits of hormonal treatment at other critical periods, including hormonal booster treatment (HBT) between 5 and 8 years of age. HBT has been shown to possibly improve areas of working memory and executive function and reduce anxiety symptoms. Further research is underway to determine the most effective timing and dosage of testosterone replacement in boys with extra X chromosomes.

The following questions and answers address the typical concerns and queries of patients. The link to the scientific articles are provided so you can download them if you wish and take them to your medical provider.

EHT (babies)

Testostereone (11+)

Several research studies (see below) have shown that testosterone treatment is beneficial for boys with extra X chromosomes.

However, it is critical to provide the appropriate form of testosterone treatment to these boys on a targeted, individualized basis. In the adolescent stage, a topical gel called Androgel is commonly used instead of testosterone shots (T-Shots). This topical gel is usually applied to the chest or shoulders. For pre-adolescents, a typical dosage is one pump of Androgel per day for 6-12 months while a specialist monitors testosterone levels. Then, as an adolescent, it may increase to 2 or 3 pumps/day with a possible increase in concentration and/or decrease in frequency. Similar treatment methods can also be used such as transdermal patches and small implanted pellets. These treatment options are highly preferred for adolescents compared to T-Shots due to the very large bolus of testosterone with the shots. This causes a more uneven effect, with a large input of testosterone initially and a trough effect two or three days before the next shot. We believe this is hard on the child, his body, and his well-being—especially in adolescents who already have so much change going on in their lives. Therefore, we support mimicking the body’s natural pattern with Androgel and other “slow release” treatments. The following research articles can provide more information on testosterone treatment:


Wosnitzer, M. S. and Paduch, D. A. (2013), Endocrinological issues and hormonal manipulation in children and men with Klinefelter syndrome. Am. J. Med. Genet., 163: 16–26. doi:10.1002/ajmg.c.31350

Mehta, A., & Paduch, D. A. (2012). Klinefelter syndrome: an argument for early aggressive hormonal and fertility management. Fertility and sterility, 98(2), 274-283.

Hellstrom, W. J., Paduch, D., & Donatucci, C. F. (2012). Importance of hypogonadism and testosterone replacement therapy in current urologic practice: a review. International urology and nephrology, 44(1), 61-70.

Testostereone (11+)

Physical Therapy (PT)

Why Physical Therapy?

Physical therapy services are sometimes necessary in children with low muscle tone, developmental motor issues, and dyspraxia. For children with an X & Y chromosomal variation, physical therapy needs to address musculoskeletal and neurological systems. This includes an evaluation of symmetry, range of motion, strength, large coordinated movements (balance, gait, locomotion, transfers and transitions), motor function (motor control and motor learning), as well as height and weight.

What to expect in XY Disorders?

Typically, children with an X & Y chromosomal disorder need physical therapy in infancy from 9 to 18 months of age, but this may vary depending on EHT and motor patterns in the family.

If a child with 47, XXY has received Early Hormonal Treatment (EHT) then they may not require physical therapy services.

These children need to see physical therapists who are pediatric and have been trained in neurodevelopmental treatment. Search for a therapist at

Boys with 47, XXY often do not require physical therapy services after 3 years of age, however, continuing physical therapy services is very common for variant disorders 48, XXXY, 48, XXYY, and 49, XXXXY.

Boy Megaphone

Occupational Therapy (OT)

Several research studies (see below) have shown that testosterone treatment is beneficial for boys with extra X chromosomes.

Why Occupational Therapy?

Occupational therapy can help children who struggle with organization, planning, and physical coordination to become more independent and to participate more easily in school and social situations. This is achieved through an initial evaluation with an occupational therapist to identify the child’s specific goal(s), customized intervention to reach identified goal(s), and an outcome evaluation to see if the goal(s) were met.

What to expect in XY Disorders?

Graphomotor Dysfunction – may also be called writing or handwriting dysfunction and represents a disconnect between a child’s thoughts and their ability to write them down.

Oculomotor Coordination – can occur when the muscles around the eye are not properly coordinated and essential eye movements (smooth pursuits, saccades, and convergence/divergence) cannot be successfully achieved.

Organization and Attentional Difficulty – occupational therapy can help to identify and implement effective and less tiring ways to complete certain tasks, such as proper handwriting skills, fastening buttons, or zipping zippers.

Motor Planning Issues – Some children with X & Y chromosomal variants have difficulty processing sensory information from tactile, vestibular, visual and auditory systems. This can make it harder to execute non-habitual motor acts.

XY Variations diagnosis Occupational Therapy (OT)

Speech & Language Therapy

Speech and language services are often required for children with X & Y chromosomal disorders.

These services are individualized and therefore vary greatly from child to child. However, several common areas of concern that may be addressed are:


Articulation: Speech sounds are acquired at different ages. Some children may demonstrate irregular speech patterns

Fluency: This is also known as stuttering or dysfluency. Strategies and speech counseling can help children learn to speak more fluently and cope with dysfluent behaviors.

Voice: This includes vocal quality, pitch, intensity, volume resonance, and prosody

Oral Motor: Oral motor skills are imperative in both speaking and feeding by increasing strength and endurance


Receptive Language: This includes one’s ability to understand what is being said or being asked to them, as well as the ability to follow directions.

Expressive Language: This includes a wide variety of skills including social skills, use of appropriate vocabulary and grammar, word finding abilities, asking and answering questions, and retelling and sequencing information.

Specific problems that are common for boys with 47, XXY, 47, XYY and 47, XXX can vary by age. These problems can be more severe in those with rare variant disorders and often require speech and language services through high school. Characteristics are described by ages and stages:

Early Infancy to 36 Months

Praxis deficits- Children have trouble with the motor planning aspect of speech, which can manifest in difficulties with sucking/swallowing, particularly with breastfeeding

Delayed Speech- Rarely babbling between 6 and 12 months, or producing no sounds; a “quiet baby”

Challenges with transitioning to textures may be evident as early as 9 months of age.

3 - 6 Years

Difficulties with peer to peer interactions due to social pragmatic issues are common to all children with X and Y chromosomal disorders.

Articulation- Begin receiving services for speech and language delay

Language formation- few 3 word combinations by 3 years of age which may indicate language formulation and praxis deficits in children with X and Y disorders; this is very common in children with rare variant disorders and less common in children with one additive X or Y

6 - 11 Years

Social Pragmatic issues

This involves the concept of “Social Thinking” that was coined by Michelle Garcia Winner

Many children struggle with the process of understanding what others are thinking in social situations

Can cause social disconnect with parents, teachers, and peers

A common misconception is that problems with social pragmatics are indicative of low intelligence, but this is not true in many cases

Professional treatment for social pragmatic issues at that age can be beneficial for these children to reach their full potential


Language-based Learning Disorder (LLD) – persistent difficulty with language-based learning, particularly reading and/or expressive vocabulary

Speech and language services may address multiple areas of focus at this stage in development and are highly effective

Speech & Language Therapy

Individual Education Plan (IEP)

The IEP is a part of the federal law called Individuals with Disabilities Education Act (IDEA). It requires that public schools create an IEP for children receiving special education services. Children from age 3 to graduation (or age 22) with disabilities are eligible for an IEP.

IEP identifies your child’s needs, what services the school will provide, and how progress will be measured. It must include the child’s present level of performance and monitor his or her progress. Goals and objectives are listed along with the ancillary support services that the school will provide to meet these goals. Modifications and accommodations will be created to further support your child reaching these goals. The process of qualifying for an IEP is complex but children with genetic disorders typically receive services. However children with X and Y chromosomal disorders often may not need an IEP to be successful in school if they receive targeted treatment and syndrome-specific goals.

Individual Family Service Plan (IFSP)

An Individual Family Service Plan (IFSP) is a process for the young child between birth to three years of age to receive services. It is designed to support families of the young child with disabilities. Early intervention is supported by IDEA 2004, a federal law.

A child with 47, XXY often may need an IFSP for speech-language therapy to improve how a child communicates, expressing his or her wants and needs. This may be through speech, an augmentative device, or sign language. The speech and language pathologist may also assist with oral motor and feeding therapy, through coordination of the jaw, throat, lips and tongue to improve feeding skills. Physical therapy services are often needed to improve skills in gross motor development, balance, motor planning and movement patterns. Typically these two disciplines are most commonly needed for children with 47, XXY, 47, XYY and 47, XXX. Children with variant disorders of 48, XXXY and 48, XXYY and 49, XXXXY then a variety of services may be needed. Because the majority of the children with X and Y disorders, have praxis deficits, early intervention must focus on motor planning skills through repetition, as well as a sequenced and hierarchal skill development.

Individual Education Plan (IEP)

Fast ForWord

Fast ForWord is a computer-based language and literacy program developed by neuroscientists to promote academic progress in students who may be struggling to acquire reading skills.

Fast ForWord offers a “suite” of products designed to target memory, attentional, processing, and sequencing development in order to quickly boost reading proficiency. This is accomplished utilizing patented speech processing technology. Please visit for details on how this technology works. Fast ForWord is often available through your school or you can arrange to use the program through our office.

Fast ForWord is accessible on a device of your choosing, be it desktop PC, laptop, or iPad. Each product is set to a specific schedule that determines which exercises are worked in, how often and for what length of time. These schedules have been proven to maximize the effectiveness of Fast ForWord. There have been over 120 publications on the effectiveness of the Fast ForWord program. Typically, the schedule will present 2 to 3 activities each day for a total of 30 minutes, 5 days a week. However, this schedule can be modified to better accommodate the student.

Fast ForWord

Our Statistics

Research, support, treatment and findings

15 years of Research & Support
2000+ Boys Treated
125 Boys with 49,XXXXY
300+ Children with Dyspraxia