46 Xy Sex Reversal 7 C1856273
A disorder of sex development where individuals with XY chromosomes have female physical features due to genetic changes affecting sexual differentiation.
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 arising from dysgenic gonadal tissue, which may become symptomatic or detectable through imaging.
URGENT: Seek immediate evaluation if experiencing pelvic/abdominal pain, palpable mass, or unexplained bleeding, as malignant transformation can occur.
Cardiovascular Anomalies
Congenital heart defects or vascular abnormalities may occur in association with certain genetic variants causing 46,XY sex reversal.
URGENT: Seek immediate care for chest pain, shortness of breath, cyanosis, or fainting episodes.
Primary Amenorrhea
(reproductive)Complete absence of menstrual periods in a phenotypic female with XY chromosomes who has reached puberty age.
Frequency: 95-100% of patients
Female External Genitalia
(reproductive)Presence of female external genitalia including vagina, labia, and clitoris despite having XY chromosomal constitution.
Frequency: 100% of patients with complete form
Delayed or Absent Puberty
(reproductive)Failure to develop secondary sexual characteristics such as breast development, menarche, or female body fat distribution by expected age.
Frequency: 90-95% of patients
Primary Infertility
(reproductive)Inability to conceive naturally due to absent or non-functional gonadal tissue in individuals with 46,XY sex reversal.
Frequency: 100% of patients
Sparse Body Hair
(dermatologic)Underdeveloped or absent pubic and axillary hair due to insufficient androgen production from dysgenic gonads.
Frequency: 60-70% of patients
Streak Gonads
(reproductive)Presence of fibrous, non-functional gonadal tissue instead of normal ovaries or testes, typically identified through imaging or surgery.
Frequency: 80-90% of patients
Short Stature
(musculoskeletal)Adult height below genetic potential, often due to SHOX gene abnormalities on sex chromosomes.
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
Individualized Hormone Therapy
Tailored hormonal treatment based on assigned gender, patient preference, and genetic findings. May include estrogen, anti-androgen, or testosterone therapy with regular level monitoring.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Family-Centered Psychoeducation
Educational interventions and support for family members to understand the condition, reduce stigma, and develop strategies for supporting the affected individual.
Additional treatment options
Comprehensive Genetic Testing
Extended genetic workup including whole exome sequencing to identify specific causative variants, guide prognosis, and inform treatment planning.
procedureFertility Preservation Consultation
Discussion and potential preservation of reproductive tissue or gametes before gonadectomy or other treatments that may affect future fertility.
surgicalLongitudinal Medical Follow-up
Lifetime coordination of care across multiple specialties including endocrinology, urology, gynecology, and primary care to address evolving healthcare needs.
monitoringWhen 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 7 C1856273?
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.
Mendonca BB, Domenice S, Arnhold IJ, Costa EM. 46,XY disorders of sex development (DSD). Clin Endocrinol (Oxf). 2009;70(2):173-187.
Endocrine Society. Clinical practice guidelines: management of congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2018;103(11):4049-4063.
Ahmed SF, Achermann JC, Arlt W, et al. UK guidance on the initial evaluation of a newborn with suspected DSD. Arch Dis Child. 2011;96(7):R65-R71.
Hughes IA, Houk C, Ahmed SF, Lee PA. Consensus statement on management of intersex disorders. Arch Dis Child. 2006;91(7):554-563.
Baxter RM, Vilain E. Understanding sex reversal. Endocr Rev. 2023;44(5):771-781.
American Academy of Pediatrics. Care of the adolescent with DSD. Pediatrics. 2013;132(1):e226-e239.
Mongan NP, Tadokoro-Cuccaro R, Bunch T, Hughes IA. Androgen insensitivity syndrome. Best Pract Res Clin Endocrinol Metab. 2015;29(4):569-580.
World Health Organization. Sexual health, human rights and the law. Geneva: WHO; 2015.
Ostrer H. Disorders of sex development (DSD): presentation and genetics. Clin Genet. 2014;86(1):14-23.
Medication Comparisons
Compare medications used to treat 46 Xy Sex Reversal 7 C1856273. 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