46 Xy Sex Reversal 1 C2748896
A genetic variation where people with XY chromosomes develop female physical characteristics due to differences in sexual development. Treatment is personalized, including hormonal and psychological support.
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 streak gonads, with potential for malignant transformation into dysgerminoma.
URGENT: Any pelvic pain, abdominal mass, or rapid abdominal enlargement requires immediate medical evaluation as these may indicate tumor development.
Primary amenorrhea
(reproductive)Complete absence of menstrual periods by age 15-16, due to non-functional streak gonads that cannot produce estrogen.
Frequency: 95-100% of patients
Absent breast development
(reproductive)Failure to develop breasts at puberty due to insufficient estrogen production from dysgenetic gonads.
Frequency: 95-100% of patients
Female external genitalia
(reproductive)Normal-appearing female external genitalia despite XY chromosomal sex, including vagina, cervix, and uterus.
Frequency: 100% of patients
Infertility
(reproductive)Complete inability to conceive due to absent or non-functional gonads and lack of oocytes.
Frequency: 100% of patients
Tall stature
(constitutional)Excessive adult height due to delayed epiphyseal closure from estrogen deficiency, allowing continued long bone growth.
Frequency: 70-80% of patients
Streak gonads on imaging
(reproductive)Gonads appear as thin, fibrous tissue bands on ultrasound or MRI rather than normal ovarian or testicular tissue.
Frequency: Detected in 80-90% when imaging performed
Hypertension
(cardiovascular)Elevated blood pressure that may be associated with underlying gonadal dysgenesis in some patients.
Frequency: 10-20% of patients
Mixed gonadal dysgenesis features
(reproductive)Some patients may have ambiguous genitalia or partial gonadal function, representing phenotypic variation within the condition.
Frequency: 5-10% 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
Lifelong sex hormone replacement to compensate for gonadal dysgenesis and maintain secondary sexual characteristics, bone health, and metabolic function.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Malignancy Risk Surveillance
Regular surveillance for gonadoblastoma and other gonadal malignancies through imaging and biochemical markers, given the high-risk nature of streak gonads.
Additional treatment options
Psychological Support Services
Comprehensive psychological care addressing identity development, disclosure concerns, and adjustment to diagnosis across the lifespan.
psychologicalProphylactic Gonadectomy
Surgical removal of gonadal streak tissue or intra-abdominal gonads to eliminate malignancy risk, typically recommended due to high tumor development rates.
surgicalGenetic Counseling Services
Genetic counseling for patients and families to understand inheritance patterns, discuss family planning options, and review implications for other family members.
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 1 C2748896?
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. International Consensus Conference on Intersex. Pediatrics. 2006;118(2):e488-e500.
American Academy of Pediatrics. Policy statement: Evaluation of the newborn with suspected congenital adrenal hyperplasia. Pediatrics. 2019;143(5):e20190678.
Hughes IA, Houk C, Ahmed SF, Lee PA. Consensus statement on management of intersex disorders. Arch Dis Child. 2006;91(7):554-563.
Mendoza-Castrejon P, Hernández-Andrade E, López-Morales MA, Platas A, Clemente R, Sagalés C, López-Reyes A. 46,XY disorders of sex development: genetic basis and clinical implications. Front Endocrinol (Lausanne). 2023;14:1200.
Witchel SF. Disorders of sex development. Best Pract Res Clin Obstet Gynaecol. 2018;48:90-102.
Endocrine Society. Clinical practice guidelines for the evaluation and management of disorders of sex development. J Clin Endocrinol Metab. 2006;91(8):3049-3060.
Speiser PW, Azziz R, Baskin LS, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2010;95(9):4133-4160.
Baxter RM, Vilain E. Understanding sex reversal. Endocr Rev. 2023;44(5):771-781.
Kousta E, Papathanasiou A, Skordis N. Sex determination and disorders of sex development according to the revised nomenclature and classification in 46,XY individuals. Hormones (Athens). 2020;19(1):17-25.
Melmed S, Polonsky KS, Larsen PR, Kronenberg HM. Williams Textbook of Endocrinology. 14th ed. Elsevier; 2020.
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.
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