46 Xy Sex Reversal 3 C3489793
A genetic form of differences of sexual development where XY chromosomes are present but female features develop. Hormonal, psychological, and potential surgical support are provided.
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 developing in dysgenetic gonadal tissue, often asymptomatic but can become malignant.
URGENT: Any pelvic pain, mass, or abnormal bleeding requires immediate evaluation for possible gonadoblastoma.
Cardiovascular Malformations
Congenital heart defects including coarctation of the aorta, septal defects, or pulmonary stenosis.
URGENT: Chest pain, shortness of breath, or cyanosis requires immediate cardiac evaluation.
Primary Amenorrhea
(reproductive)Absence of spontaneous menstrual periods by age 15-16 in individuals with XY karyotype.
Frequency: 90-100% of patients with complete gonadal dysgenesis
Absence of Secondary Sexual Characteristics
(reproductive)Failure to develop breasts, body hair, or other pubertal changes by expected age.
Frequency: 85-95% of patients
Primary Infertility
(reproductive)Inability to conceive naturally due to absent or non-functional gonadal tissue.
Frequency: 95-100% of patients
Ambiguous Genitalia
(reproductive)Presence of both male and female genital characteristics at birth or in infancy.
Frequency: 60-70% of patients with partial forms
Renal Anomalies
(genitourinary)Kidney abnormalities including horseshoe kidney, renal agenesis, or collecting system defects.
Frequency: 10-15% of patients
Short Stature
(endocrine)Height below expected genetic potential, often becoming apparent in childhood.
Frequency: 20-30% of patients
Streak Gonads
(reproductive)Presence of fibrous, non-functional gonadal tissue identified on imaging or surgery.
Frequency: 80-90% of patients with complete gonadal dysgenesis
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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Family-centered counseling
Family therapy focusing on processing diagnosis, improving communication, building support networks, and addressing parental concerns about the child's condition and future. Helps families navigate complex medical decisions.
Long-term endocrine and metabolic monitoring
Comprehensive lifelong monitoring including growth patterns, bone density assessment, metabolic syndrome screening, and cardiovascular risk evaluation. Adapts monitoring frequency based on treatment choices and clinical status.
Additional treatment options
Gonadectomy with hormone replacement
Removal of gonadal tissue with malignancy risk combined with lifelong hormone replacement therapy to maintain metabolic health, bone density, and quality of life.
surgicalFertility preservation consultation
Early consultation with reproductive specialists to discuss fertility preservation options including sperm banking, experimental techniques, and future assisted reproductive possibilities. Appropriate timing based on pubertal development.
procedurePatient education and self-advocacy training
Education program helping patients understand their diagnosis, treatment options, and health monitoring needs. Empowers patients to communicate effectively with healthcare providers and make informed decisions.
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 46 Xy Sex Reversal 3 C3489793?
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.
Lee PA, Houk CP, Ahmed SF, Hughes IA. Consensus statement on management of intersex disorders. Pediatrics. 2006;118(2):e488-e500.
Achermann JC, Domenice S, Bachega TA, Nishi MY, Mendonca BB. Disorders of sex development: effect of cross-sex hormone therapy on the brain. Curr Opin Endocrinol Diabetes Obes. 2022;29(1):46-56.
Hughes IA, Houk C, Ahmed SF, Lee PA. Consensus statement on management of intersex disorders. J Pediatr Urol. 2006;2(4):148-162.
Mendonca BB, Batista RL, Domenice S, et al. Disorders of sex development (DSD): organizational effects of a complex condition. Nat Rev Endocrinol. 2020;16(7):399-413.
Kreukels BP, Cohen-Kettenis PT. Gender development in individuals with DSD: a review. Curr Opin Endocrinol Diabetes Obes. 2021;28(5):491-499.
Bertalan R, Lucaccioni L, Guizzardi F, et al. Clinical management and molecular characterization of 46,XY DSD patients: a 10-year experience from a single center. J Clin Endocrinol Metab. 2023;108(8):1981-1992.
Speiser PW, Arlt W, Auchus RJ, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2018;103(11):4043-4088.
Witchel SF. Disorders of sex development. Ann Clin Lab Res. 2018;6(2):247.
Medication Comparisons
Compare medications used to treat 46 Xy Sex Reversal 3 C3489793. 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