XY Chromosome Abnormalities

Comprehensive Care for Kids With XY Chromosome Abnormalities 

The Nemours eXtraordinarY Kids Program offers expert, comprehensive, integrated medical care and support services for children with XY chromosome abnormalities (variations of the X and Y chromosomes, which determine a child’s sex — male or female). Normally, a child will be a male if he inherits one X chromosome from his mother and one Y chromosome from his father. A child will be a female if she inherits a double dose of X (one from each parent) and no Y. Sometimes, though, children are born with only one sex chromosome (usually a single X) or with an extra X or Y.

At Nemours, our eXtraordinarY Kids team will give your child a thorough evaluation and create a treatment plan tailored to your child’s medical care, development, academic, social and emotional needs. Our program was created to help families identify needs and resources — and to provide coordinated care, all in one place. Our goal: to help all children reach their full potential.

Conditions we see include:

  • Klinefelter syndrome
  • Turner syndrome 
  • XXX syndrome
  • XYY syndrome
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Nemours/Alfred I. duPont Hospital for Children, Wilmington

1600 Rockland Road
Wilmington, DE 19803
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For Appointments: (215) 955-9008 

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Clinic Coordinator
Karen Kowal, PA

What to Bring
  • photo ID
  • medical and pharmacy insurance cards
  • preferred pharmacy name and phone number
  • names and dosage of all medications, including over-the-counter medication, your child is currently taking
  • guardianship and custody papers, if a legal guardian rather than a parent accompanies your child
Returning Patients
  • Patient Presents Without Legal Guardian (PDF)
    English | Spanish
    Note: A parent or legal guardian must be with a child for a first visit.
Forms & Resources
Returning Patients
  • Patient Presents Without Legal Guardian (PDF)
    English | Spanish
    Note: A parent or legal guardian must be with a child for a first visit.
Resources for Patients & Families

Why Choose Us 

XY chromosome abnormalities are common but frequently undiagnosed genetic conditions that can impact a child’s development and physical characteristics. Symptoms vary from mild to severe (e.g., physical, hormonal, neurocognitive, psychiatric and social issues such as delayed pubertal development, speech delays, low muscle tone, attention deficits and social immaturity). With proper diagnosis and care, children with X and Y chromosome variations can succeed academically, physically and socially, and lead independent, productive lives. Our team has the expertise to give an accurate diagnosis and recommend proper treatments (such as medications and speech and occupational/physical therapy).

At Nemours eXtraordinarY Kids Program, we include parents and family members as integral members of the care team. We involve you in treatment plan decisions and make sure you understand your child’s condition and care. 

Our team is also very active in research and clinical trials. We study the medical problems, genetic factors, development, learning, behavior and motor skills in children and young adults with XY chromosome abnormalities. We’re always seeking better treatments and diagnostic methods.

We’re currently recruiting patients and families for an active clinical trial in this area. Learn More About Our Clinical Trial »

Our Team

The Nemours eXtraordinarY kids team combines the efforts of multiple health professionals from various fields, all working together to give your child the best care possible. 

Our team is led by Dr. Judith Ross, pediatric endocrinologist, who has devoted the greater part of her career to the study and treatment of X and Y chromosome variations. She provides overall guidance about physical features, hormonal/endocrine issues and treatment, neurodevelopmental and genetic aspects, and any related medical concern. Kids’ comprehensive care is coordinated by our physician assistant (PA), who has more than 25 years of experience working with families of children with XY chromosome abnormalities.

The team also includes:

  • a pediatric geneticist and certified genetic counselor to provide genetic counseling, testing, diagnosis and family support
  • a pediatric developmental medicine physician to evaluate and monitor development, and manage medication for ADHD, anxiety and/or other behavior disorders
  • pediatric psychologists, neuropsychologists and a psychiatrist to diagnose and address behavioral and emotional concerns, cognitive functioning, social skills, learning differences and school strategies
  • physical and occupational therapists to address motor skill deficits and daily living skills
  • a speech pathologist to address difficulties with speech, language and expression
  • a social worker to identify resources, help manage complex cases and offer transition planning
  • a nursing navigator to coordinate needed services and facilitate appointments

Learn More About the Nemours eXtraordinarY Kids Program »