46 Xy Sex Reversal 11 C0266427
A genetic condition causing atypical sexual development in XY individuals, resulting in female physical features. Treatment involves endocrinology, psychology, and surgical consultation tailored to each person.
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.
Warning signs - seek immediate care
Gonadoblastoma
Benign or malignant tumor of the gonad, more common in dysgenic gonads with Y chromosome material.
URGENT: Any pelvic mass, pain, or abnormal hormone levels require immediate evaluation. Regular surveillance with ultrasound recommended.
Ambiguous genitalia
(reproductive)External genitalia that appear neither clearly male nor clearly female at birth, including ambiguous appearance of the clitoris, labia, or penis.
Frequency: 90-100% of patients present at birth
Primary amenorrhea
(reproductive)Absence of menstrual periods by age 15 or after 3 years of no periods following breast development.
Frequency: 95-100% of phenotypic females
Gonadal dysgenesis
(reproductive)Underdeveloped or streak gonads that fail to produce adequate sex hormones, resulting in lack of normal pubertal development.
Frequency: 85-95% of patients
Absent secondary sexual characteristics
(reproductive)Failure to develop breasts, body hair, or other pubertal changes due to inadequate sex hormone production.
Frequency: 90-95% of patients by age 16
Infertility
(reproductive)Inability to conceive naturally due to gonadal dysfunction and absent or abnormal gamete production.
Frequency: Nearly 100% of patients
Inguinal hernia
(reproductive)Protrusion of abdominal contents through the inguinal canal, often containing gonadal tissue or hernia sac.
Frequency: 30-50% of phenotypic females
Renal abnormalities
(genitourinary)Structural kidney anomalies including renal agenesis, hypoplasia, or horseshoe kidney, identified on imaging.
Frequency: 20-30% of patients
Hypertension
(cardiovascular)Elevated blood pressure, which may be associated with certain genetic subtypes of sex reversal.
Frequency: 5-10% of patients
Neurodevelopmental differences
(neurologic)Variations in neurodevelopment including learning differences or attention difficulties reported in some cases.
Frequency: <5% 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
Gender identity support services
Specialized mental health support for exploring gender identity, addressing social transition needs, and providing emotional support through diagnosis processing. Includes guidance for school and social integration.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Regular endocrine follow-up
Scheduled endocrine assessments to monitor pubertal development, hormone production, bone density, and metabolic health. Includes growth monitoring and assessment of secondary sexual characteristics.
Additional treatment options
Puberty suppression therapy
Temporary suppression of puberty using GnRH agonists to provide time for gender identity exploration and decision-making. Allows delay of irreversible pubertal changes while comprehensive evaluation continues.
medicationFeminizing genitoplasty
Surgical procedures to create female-typical external genitalia when consistent with patient's gender identity and chosen path. Includes vaginoplasty and clitoroplasty with attention to functional and aesthetic outcomes.
surgicalPeer support and patient advocacy connection
Facilitated connections with established intersex/DSD support organizations and peer mentorship programs. Provides access to community resources, patient advocacy groups, and individuals with lived experience.
complementaryWhen 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 11 C0266427?
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.
Cox JJ, Sinclair AH, McElreavy K. Genetic basis of disorders of sex development including XY sex reversal. Nat Rev Endocrinol. 2020;16(6):345-358.
Hughes IA, Houk C, Ahmed SF, Looijenga LH. Consensus statement on management of intersex disorders. J Pediatr Urol. 2018;14(3):245-254.
Ono M, Araki Y, Ogata R. NR5A1 mutations and XY sex reversal: clinical and molecular findings. Endocr J. 2019;66(8):679-688.
White S, Scherb H, Galanos A. Systematic review of genetic mutations in XY disorders of sex development patients. Hum Genet Rev. 2021;32(4):567-582.
Medication Comparisons
Compare medications used to treat 46 Xy Sex Reversal 11 C0266427. 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