How are X&Y chromosome variations treated?
The eXtraordinarY Kids Clinic at Children's Hospital Colorado is a unique interdisciplinary clinic that evaluates and treats children with X&Y chromosome variations. Treatment options for X&Y chromosome variations are designed specific to your child's unique needs. Based on your concerns and your child's symptoms, treatment may involve developmental, psychological or educational interventions like therapies, special education, counseling or medications, which may help children with behavioral, emotional or social issues.
Children with X&Y chromosome variations can often benefit from early interventions for speech delays, gross and fine motor delays, learning disabilities, behavioral issues and social deficits. Therefore, we highly recommend that children with X&Y chromosome variations be seen for a developmental, psychological and medical evaluation shortly after receiving a diagnosis. For infants diagnosed before birth, we recommend consultation with a genetic counselor during pregnancy when the diagnosis is received, and neurodevelopmental evaluations after birth.
Males with an extra X chromosome (XXY/Klinefelter Syndrome, XXYY, XXXY, etc) need care from an endocrinologist, a specialist in hormones, who will monitor for the need for testosterone treatment starting in puberty. This is because the extra X chromosomes usually lead to small testicles and a testosterone deficiency that delays or prevents full pubertal development.
Girls with Turner syndrome should be evaluated by both a cardiologist and an endocrinologist as soon as a diagnosis is made to determine if there are differences in the heart and if growth hormone and other hormone therapies are needed. Consultation with a genetic counselor and geneticist is also important.
Why choose Children's Colorado for sex chromosome variations?
The eXtraordinarY Kids Clinic at Children's Colorado was established in 2007 and is a leading interdisciplinary clinic for children with X&Y chromosome variations. Children and their parents have the opportunity to meet with professionals who have significant experience with these conditions including a developmental pediatrician (Dr. Nicole Tartaglia), endocrinologist (Dr. Shanlee Davis), speech therapist, occupational therapist, clinical psychologist, neuropsychologist and a genetic counselor. Additional specialists for Turner syndrome include genetics (Dr. Laura Pickler), cardiology and adolescent gynecology.
After a clinical evaluation, your family will receive a report summarizing the evaluation and providing specific recommendations for your child based on his or her condition and assessment in order to support your child’s development, academic and emotional needs as well as necessary medical management.
The clinic also provides developmental follow-up for children with X&Y chromosome variations who were diagnosed prenatally or in infancy to help enhance development, evaluate for the need for early intervention therapies, and monitor for medical and neurodevelopmental problems that are commonly associated with the specific sex chromosome variation.