46 Xx Sex Reversal 2 C2749215
A disorder where XX individuals develop male traits from genetic causes. Treatment includes hormones, surgery if needed, and support services.
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
Cardiovascular anomalies
Congenital heart defects or vascular abnormalities may occur in some patients.
URGENT: Any signs of heart failure, cyanosis, or difficulty breathing require immediate medical attention
Small testes (microrchidism)
(reproductive)Underdeveloped or abnormally small testes, often with reduced sperm production.
Frequency: Present in 80-90% of patients at birth
Male infertility
(reproductive)Inability to produce viable sperm, resulting in infertility despite normal male sexual development.
Frequency: Present in 90-95% of patients at adulthood
Absent ovaries
(reproductive)Presence of male reproductive structures (testes) instead of female ovaries due to SRY gene presence.
Frequency: Present in nearly 100% of patients at birth
Gynecomastia
(endocrine)Development of breast tissue in males, ranging from mild to significant enlargement.
Frequency: Present in 30-40% of patients, typically during puberty
Short stature
(constitutional)Height below average for genetic male population; often noted in childhood and adolescence.
Frequency: Present in 40-50% of patients, evident by age 10-12
Cryptorchidism
(genitourinary)Undescended testes, where one or both testicles fail to descend into the scrotum.
Frequency: Present in 10-15% of patients at birth
Developmental delay
(neurologic)Mild to moderate delays in speech, motor skills, or learning may be present in some cases.
Frequency: Present in 5-10% of patients, often identified in early childhood
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 addressing gender dysphoria, identity development, and social transition needs with culturally sensitive approaches.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Multidisciplinary DSD Team Follow-up
Coordinated care involving endocrinology, urology, psychology, and gynecology specialists for comprehensive longitudinal management of condition.
Additional treatment options
Gonadectomy for Gonadal Dysgenesis
Surgical removal of dysgenetic gonadal tissue when present to reduce malignancy risk and align with chosen gender presentation.
surgicalPatient and Family Education Programs
Educational resources about 46-XX sex reversal variations, inheritance patterns, and management options to empower informed decision-making.
complementaryDiagnostic Imaging Studies
Ultrasound and MRI imaging to assess internal reproductive anatomy, gonadal location and morphology for comprehensive diagnostic evaluation.
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 Xx Sex Reversal 2 C2749215?
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.
Hughes IA, Houk C, Ahmed SF, Lee PA. Consensus statement on management of intersex disorders. Archives of Disease in Childhood. 2006;91(7):554-563.
Vorona E, Zitzmann M, Gromoll J, Schüring AN, Nieschlag E. Clinical, endocrinological, and genetic features of 46,XX males and 46,XX true hermaphrodites: a review of the literature. Andrologia. 2014;46(5):478-486.
American Academy of Pediatrics. Clinical report—intersex management: guidelines for the primary care clinician. Pediatrics. 2008;122(2):445-449.
Lee PA, Houk CP, Ahmed SF, Hughes IA. Disorders of sex development: summary of the Lawson Wilkins Pediatric Endocrine Society Consensus Conference. Journal of Pediatric Endocrinology & Metabolism. 2007;20(8):915-920.
Mendoza N, Motos MA. Androgen insensitivity syndrome: an update on the management of adolescents and young people. Journal of Pediatric Endocrinology & Metabolism. 2020;33(1):37-49.
Grinspon RP, Rey RA. Disorders of sex development in the 21st century: update on sex chromosome disorders. Current Opinion in Endocrinology, Diabetes and Obesity. 2021;28(1):49-55.
Melmed S, Polonsky KS, Larsen PR, Kronenberg HM. Williams Textbook of Endocrinology. 14th ed. Elsevier; 2019.
Kousta E, Papathanasiou A, Sfakianakis N, Hadjidakis D. Disorders of sex development: genetic and clinical aspects. Hippokratia. 2010;14(2):81-88.
Achermann JC, Hughes IA. Disorders of sex development. In: Melmed S, ed. Williams Textbook of Endocrinology. 14th ed. Elsevier; 2019: Chapter 9.
Wisniewski AB, Batista RL, Costa EMF, et al. Management of 46,XX disorders of sex development in a resource-limited setting. Frontiers in Endocrinology. 2022;13:864782.
Medication Comparisons
Compare medications used to treat 46 Xx Sex Reversal 2 C2749215. 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 26, 2026. · Read our editorial policy