46 Xy Sex Reversal 5 C2751317
A genetic variation in sexual development affecting XY individuals who present with female characteristics. Care includes endocrinology, mental health support, and surgical options as needed.
Key facts at a glance
- ICD-10
- Q55.9
- ICD-11
- LA00.0
- Body system
- reproductive
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Ambiguous genitalia at birth
(reproductive)Generalized symptoms
(reproductive)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Primary amenorrhea
(reproductive)Delayed puberty
(reproductive)Gonadal tumor development
(reproductive)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 Supplementation
Androgen therapy for patients assigned male or transitioning to male gender to promote masculine secondary sexual characteristics. Dosage titrated based on patient response and goals.
Multidisciplinary DSD Care Team
Comprehensive care coordination involving endocrinology, urology, psychology, and social work to address complex medical and psychosocial needs of patients and families.
Additional treatment options
Genital Reconstruction Surgery
Gender-affirming surgical procedures including vaginoplasty, phalloplasty, or other reconstructive procedures based on patient gender identity and preferences.
surgicalGrowth and Development Assessment
Regular pediatric endocrinology monitoring of growth velocity, bone age, and pubertal development to optimize timing of interventions and hormonal therapies.
monitoringGenetic Counseling
Detailed genetic testing and family counseling to explain inheritance patterns, recurrence risks, and implications for family planning.
procedureWhen 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 46 Xy Sex Reversal 5 C2751317?
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.
Sarafoglou K, Bouloux C. Disorders of sexual development: 46,XY sex reversal syndromes. Endocrinol Metab Clin North Am. 2022.
Hughes IA, Nihoyannopoulos P, Groj Kopriva S. International Consensus Conference on DSD nomenclature. Horm Res Paediatr. 2019.
Witchel SF, Astapova O, Ostrowski PJ. Genetic basis of 46,XY DSD: A meta-analysis of SRY and NR5A1 mutations. J Clin Endocrinol Metab. 2021.
Mendonca BB, Domenice S, Arnhold IJ. Phenotypic spectrum and management of 46,XY disorders of sex development. Nat Rev Endocrinol. 2020.
Medication Comparisons
Compare medications used to treat 46 Xy Sex Reversal 5 C2751317. 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