48 Xxxy Syndrome C0265498
A chromosomal condition in males with an extra X chromosome, causing intellectual disability, developmental delays, and physical features.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Congenital Heart Defect
Structural heart abnormalities present at birth, which may require surgical intervention depending on severity.
Seek immediate medical care if symptoms of heart failure develop such as difficulty breathing or poor feeding in infants.
Recurrent Infections
Increased susceptibility to respiratory and ear infections due to immune system differences.
Seek prompt medical attention for signs of serious infection such as high fever, difficulty breathing, or persistent illness.
Intellectual Disability
(neurologic)Mild to moderate intellectual disability affecting cognitive functioning, learning abilities, and problem-solving skills.
Frequency: 80-90% of patients
Hypotonia
(neurologic)Low muscle tone present from infancy, leading to delayed motor milestones such as sitting, crawling, and walking.
Frequency: 85-95% of patients
Hypogonadism
(reproductive)Underdeveloped testes producing low testosterone levels, leading to infertility and reduced secondary sexual characteristics.
Frequency: 95-100% of patients
Tall Stature
(constitutional)Excessive growth in height, particularly long limbs, becoming more apparent during childhood and adolescence.
Frequency: 80-90% of patients
Speech and Language Delay
(neurologic)Delayed speech development and difficulties with expressive language, often with better receptive language skills.
Frequency: 85-95% of patients
Clinodactyly
(musculoskeletal)Inward curvature of the fifth finger (pinky finger), a subtle skeletal abnormality of the hands.
Frequency: 50-70% of patients
Dental Abnormalities
(dental)Various dental issues including delayed tooth eruption, small teeth, crowded teeth, or abnormal tooth alignment.
Frequency: 40-60% of patients
Social Anxiety
(psychiatric)Difficulty with social interactions and increased anxiety in social situations, often due to developmental challenges.
Frequency: 40-60% of patients
Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Testosterone replacement therapy
Androgen supplementation to induce male secondary sexual characteristics, increase muscle mass, and support metabolic health in affected individuals.
Early developmental intervention
Structured physical and occupational therapy programs addressing motor delays, hypotonia, and coordination difficulties commonly seen in this syndrome.
Additional treatment options
Neurodevelopmental and behavioral support
Specialized interventions addressing learning disabilities, executive function deficits, and social skills training appropriate to cognitive profile.
psychologicalCardiovascular and metabolic monitoring
Regular assessment of cardiac function, lipid profiles, and glucose metabolism given increased cardiovascular risk associated with hypogonadism.
monitoringEducational support services
Individualized education plans with appropriate accommodations, specialized instruction, and vocational training tailored to cognitive and learning profiles.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is 48 Xxxy Syndrome C0265498?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Tartaglia N, Ayari N, Howell S, D'Epagnier C, Zeitler P. 47,XXY (Klinefelter syndrome) and 48,XXXY: an update. J Dev Behav Pediatr. 2011;32(5):407-414.
Visootsak J, Graham JM Jr. Social function in multiple X and Y chromosome disorders: 47,XXY, 47,XYY, and 48,XXXY. Mol Syndromol. 2012;2(3-5):203-210.
American Academy of Pediatrics, Section on Endocrinology and Committee on Genetics. Clinical report—health supervision for children with sex chromosome abnormalities. Pediatrics. 2015;136(4):e1104-e1116.
Gravholt CH, Viuff MH, Just J, et al. The International Turner Syndrome Consensus Group: health surveillance for girls and women with Turner syndrome. Nat Rev Endocrinol. 2023;19(9):540-554.
Jones KL, Jones MC, del Campo Casanelles M. Smith's Recognizable Patterns of Human Malformation. 8th ed. Elsevier; 2022.
Linden MG, Bender BG, Robinson A. Genetic counseling for sex chromosome abnormalities. Am J Med Genet. 2002;110(1):3-10.
Sex Chromosome Aneuploidy Primary Care Provider Guidelines. Denver, CO: Children's Hospital Colorado; 2019.
Samango-Sprouse C, Counts DR, Thorson L, et al. Neurodevelopmental variability in 48,XXXY syndrome: follow-up outcomes in early childhood. Am J Med Genet C Semin Med Genet. 2019;181(2):225-232.
Genetics Home Reference. 48,XXXY syndrome. U.S. National Library of Medicine. Reviewed 2020.
Marceau K, McMaster MT, Bell MA, et al. The association between sex chromosome genotypes and neurodevelopmental outcomes: a meta-analysis. J Neurodev Disord. 2023;15(1):25.
Medication Comparisons
Compare medications used to treat 48 Xxxy Syndrome C0265498. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy