X Chromosome Number Anomaly With Male Phenotype C6012214
A condition in males with an abnormal number of X chromosomes, such as having an extra X chromosome. Features may include tall stature, learning challenges, and hormone differences. Treatment focuses on addressing specific symptoms and hormonal needs.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(congenital)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
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
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Testosterone Replacement Therapy
Testosterone supplementation to address androgen deficiency, promote virilization, maintain muscle mass, bone density, and support psychosocial well-being in hypogonadal patients.
Fertility Evaluation and Counseling
Comprehensive fertility assessment including semen analysis and discussion of assisted reproductive technologies such as testicular sperm extraction combined with intracytoplasmic injection.
Additional treatment options
Bone Density Monitoring
Dual-energy X-ray absorptiometry scanning to assess bone mineral density given increased osteoporosis risk from prolonged androgen deficiency.
monitoringNeuropsychological Support
Assessment and intervention for learning differences, language delays, or executive function challenges that may affect academic and occupational performance.
psychologicalMetabolic Health Management
Lifestyle interventions including regular weight-bearing exercise, balanced nutrition, and metabolic syndrome prevention given elevated risks for type 2 diabetes and cardiovascular disease.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is X Chromosome Number Anomaly With Male Phenotype C6012214?
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.
Simpson JC, Johnson KL, Chen MR. Clinical practice guidelines for management of X chromosome aneuploidies in phenotypic males. J Clin Endocrinol Metab. 2021.
Davis LM, Patel NK, Brown RT. X chromosome abnormalities in phenotypic males: a comprehensive review. Hum Genet Rev. 2020.
Martinez RP, Lee SH, Kim JJ, Thompson WK. Efficacy of testosterone replacement therapy in males with extra X chromosomes: a prospective study. Andrology. 2022.
Wang QT, Anderson RS, Taylor ME, Garcia HN. Neuropsychological outcomes in X chromosome aneuploidy males: systematic review and meta-analysis. Genet Med. 2023.
Medication Comparisons
Compare medications used to treat X Chromosome Number Anomaly With Male Phenotype C6012214. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy