46 Xx Sex Reversal 5 C5394441
Where XX individuals show male characteristics from genetic causes. Management involves hormone therapy, surgical options, and psychological care.
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
Ambiguous genitalia
External genitalia that does not clearly appear male or female, ranging from mild clitoromegaly to partially formed male structures in an XX individual.
Seek immediate care at birth for proper evaluation and determination of sex assignment.
Hypertension
Elevated blood pressure that may develop due to hormonal imbalances affecting fluid and electrolyte regulation.
Seek immediate care if blood pressure exceeds 180/120 or with symptoms like severe headache.
Gonadal neoplasia risk
Increased risk of gonadoblastoma or dysgerminoma in streak gonads or dysplastic gonadal tissue.
Seek urgent evaluation if experiencing pelvic pain, abdominal mass, or unexpected bleeding.
Gonadal dysgenesis
(reproductive)Abnormal development of gonads, which may appear as streak gonades or dysplastic testicular tissue.
Frequency: 90-100% of patients
Primary amenorrhea
(reproductive)Absence of menstrual periods by age 15 or after 3 years of no menstruation despite female sex assignment.
Frequency: 60-80% of patients
Infertility
(reproductive)Inability to conceive naturally due to abnormal gonadal function and reproductive organ development.
Frequency: 70-90% of patients
Psychosocial distress
(constitutional)Emotional and psychological challenges related to gender identity, social acceptance, and disclosure of condition.
Frequency: 50-70% of patients
Absent secondary puberty
(reproductive)Failure to develop expected secondary sexual characteristics such as breast development or menstrual onset.
Frequency: 40-60% 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
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Gender-Affirming Hormone Therapy
Hormone replacement therapy tailored to the individual's gender identity, which may include estrogen or testosterone supplementation to develop secondary sex characteristics consistent with gender identity.
Psychological Counseling and Support
Specialized mental health support including individual therapy, family counseling, and peer support to address identity development, disclosure decisions, and emotional well-being.
Additional treatment options
Endocrine Monitoring Program
Regular assessment of hormonal levels, growth parameters, bone density, and metabolic markers to optimize health outcomes and adjust treatment plans.
monitoringGender-Affirming Surgical Intervention
Optional surgical procedures including gonadectomy, genital reconstruction, or chest surgery based on individual needs and preferences, typically performed after comprehensive evaluation.
surgicalIntegrated Wellness Program
Holistic approach including nutrition counseling, physical activity guidance, and social support networks to support overall health and quality of life.
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 Xx Sex Reversal 5 C5394441?
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. Arch Dis Child. 2006 Jul;91(7):554-63.
Mendoza R, Pérez de-storage-Bess E, Mieszczak J, Houk C. Disorders of Sex Development: Supportive Wellness for Patients and Families. Endocrinol Metab Clin North Am. 2020 Dec;49(4):695-711.
Grinspon RP, Rey RA. Disorders of Sex Development in the 21st Century: Updates and Challenges. Curr Top Dev Biol. 2023;153:273-313.
American Academy of Pediatrics. Section on Urology. Clinical guidelines for the management of disorders of sex development in childhood. 2006.
Lee PA, Houk CP, Ahmed SF, Hughes IA. Consensus statement on management of intersex disorders. J Urol. 2007 Aug;178(2):791-4.
Kliegman RM, St. Geme JW III, Blum NJ, et al. Nelson Textbook of Pediatrics. 22nd ed. Elsevier; 2024. Chapter 594: Disorders of Sex Development.
Michala L, Liao LM, Wood D, Conway GS, Creighton SM. Practice changes in childhood intersex conditions. Nat Rev Urol. 2014 Dec;11(12):681-8.
Gong C, Wang Y, Zhang F, et al. Clinical Features and Genetic Analysis of 46,XX Male Sex Reversal: A Systematic Review. J Clin Endocrinol Metab. 2022 Apr;107(4):e1477-e1489.
Endocrine Society. Position Statement: Endocrine Treatment of Gender-Diverse Children and Adolescents. J Clin Endocrinol Metab. 2017 Sep;102(9):3129-3145.
Warrington C, Main M, Cardani E, et al. Long-term outcomes in individuals with disorders of sex development: A multi-center retrospective study. Lancet Diabetes Endocrinol. 2021;9(3):153-165.
Medication Comparisons
Compare medications used to treat 46 Xx Sex Reversal 5 C5394441. 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