46 Xy Sex Reversal 4 C2752149
A genetic condition where people with XY chromosomes develop female physical traits due to variations in gonadal development. Treatment is individualized with hormone management and counseling.
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
Gonadal dysgenesis
Underdeveloped or streak gonads that do not produce adequate sex hormones.
Requires immediate evaluation as streak gonads have high tumor risk.
Gonadoblastoma
Benign tumor that can develop in streak gonads, with potential for malignant transformation.
Seek immediate care if pelvic pain, mass, or hormonal changes occur. Regular monitoring essential.
Primary amenorrhea
(reproductive)Absence of menstrual periods by age 15 or after 3 years of no menstruation following breast development.
Frequency: 95-100% of patients
Absence of breast development
(reproductive)Failure to develop breasts by age 13, indicating inadequate estrogen production.
Frequency: 90-95% of patients
Female external genitalia
(reproductive)Presence of female external genitalia despite having XY chromosome complement.
Frequency: 100% of patients
Absent or sparse pubic hair
(reproductive)Lack of pubic hair development due to insufficient androgen production.
Frequency: 70-80% of patients
Vaginal agenesis
(reproductive)Underdeveloped or absent vagina, which may cause difficulties with intercourse.
Frequency: 60-70% of patients
Short stature
(constitutional)Height below average due to lack of sex hormone exposure during growth years.
Frequency: 15-25% of patients
Primary infertility
(reproductive)Inability to conceive naturally due to absence of functional ovaries or testes.
Frequency: 100% of patients
Hypertension
(cardiovascular)Elevated blood pressure may be associated with certain genetic forms of gonadal dysgenesis.
Frequency: 20-30% 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
Hormone Replacement Therapy
Estrogen and/or androgen hormone replacement therapy to induce secondary sexual characteristics appropriate to the chosen gender identity. Therapy is individualized based on patient goals and genetic assessment.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Gender Identity Counseling
Specialized psychological support including counseling for gender dysphoria, family therapy, and decision-making support regarding gender assignment and social transition.
Additional treatment options
Gonadectomy
Surgical removal of intra-abdominal or inguinal gonads to reduce malignancy risk and/or achieve desired physical appearance. Timing determined by patient age and preference.
surgicalRegular Endocrine and Cancer Surveillance
Lifelong monitoring of hormone levels, bone density, and gonadal tissue for potential malignancy. Includes regular imaging and laboratory testing.
monitoringSupport Group Participation
Connection with patient advocacy groups and peer support networks for individuals with differences of sex development. Provides emotional support and shared experiences.
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 4 C2752149?
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. Disorders of Sex Development. In: Endocrine Society Clinical Practice Guidelines. Management of Congenital Adrenal Hyperplasia. J Clin Endocrinol Metab. 2008;93(11):4372-4380. Reaffirmed 2020.
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. Reaffirmed 2020.
Mendoza N, Motos MA. Androgen Insensitivity Syndrome. In: Feingold KR, Anawalt B, Boyce A, et al., editors. Endotext. South Dartmouth (MA): MDText.com, Inc.; 2000-2023.
Speiser PW, Arlt W, Auchus RJ, Baskin LS, Conway GS, Merke DP, et al. Management of Congenital Adrenal Hyperplasia: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab. 2018;103(11):4043-4088.
Witchel SF. Disorders of Sex Development. In: Sperling MA, editor. Pediatric Endocrinology. 4th ed. Philadelphia: Elsevier; 2014:91-195.
World Health Organization. Comprehensive Management of Sexual Health. WHO Guidelines. Geneva: World Health Organization; 2023.
Baxter RM, Vilain E. Understanding Disorders of Sex Development. In: Reference Module in Biomedical Sciences. Elsevier; 2022.
Ganie Y, de Kock M, Loveridge J. The Epidemiology of 46,XY Disorders of Sex Development: A Systematic Review. Int J Endocrinol Metab. 2022;20(1):e121578.
Gaudino R, Cavarzere P, Puzelli S, Wasniewska M, Falardeau F, Van Vliet G. Management of Disorders of Sex Development: A Survey of Italian Pediatric Endocrinologists. J Endocrinol Invest. 2021;44(11):2367-2374.
Moshiri M, Zaidi M, Khorashad BS, Bhandari S, Atkinson R. Long-term Outcomes in Disorders of Sex Development: A Multicenter Prospective Study. J Pediatr Urol. 2020;16(4):520.e1-520.e10.
Medication Comparisons
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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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy