46 Xy Disorder Of Sex Development Of Gynecological Interest C5679867
Refers to 46,XY differences of sex development that have relevance to gynecological care. These conditions may involve atypical internal reproductive structures. Care involves specialized hormonal and surgical management.
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 of the gonads, which may develop in streak gonads or dysgenetic gonadal tissue.
Seek immediate care if experiencing pelvic pain, abdominal mass, or sudden abdominal swelling.
Cardiovascular anomalies
Associated heart or blood vessel abnormalities that may accompany certain types of 46,XY DSD.
Seek immediate care for chest pain, shortness of breath, or fainting.
Primary amenorrhea
(reproductive)Absence of menstrual periods by age 15-16 in individuals with 46,XY karyotype, despite having female external genitalia.
Frequency: 90-95% of patients
Absent or underdeveloped uterus
(reproductive)Partial or complete absence of the uterus and upper vagina due to Müllerian duct regression.
Frequency: 90-95% of patients
Sparse or absent pubic hair
(dermatologic)Lack of normal pubic and axillary hair development due to androgen insensitivity or testosterone biosynthesis defects.
Frequency: 85-95% of patients
Breast development with XY chromosomes
(reproductive)Development of female breast tissue due to aromatization of testosterone to estrogen, despite male chromosomes.
Frequency: 80-90% of patients
Ambiguous genitalia
(reproductive)Atypical appearance of external genitalia that is neither clearly male nor clearly female at birth or during puberty.
Frequency: 60-75% of patients
Short vagina or vaginal agenesis
(reproductive)Shortened or absent vaginal canal, which may cause difficulty with sexual intercourse.
Frequency: 70-80% of patients
Primary infertility
(reproductive)Inability to conceive naturally due to absence of functional uterus, ovaries, or proper gonadal function.
Frequency: 95-99% of patients
Clitoromegaly
(reproductive)Enlargement of the clitoris beyond normal size, often noted at birth or becoming apparent during puberty.
Frequency: 30-40% 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
Gynecological Assessment and Surgical Planning
Thorough evaluation by a DSD-experienced gynecologist to assess reproductive anatomy and plan surgical interventions if needed, considering gynecological implications of the disorder.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Gynecological Hormone Management
Hormonal therapy tailored to gynecological needs, including management of menstrual cycles, endometrial health, and hormonal balance specific to the DSD presentation.
Additional treatment options
Gynecological Long-Term Follow-Up
Ongoing gynecological monitoring including pelvic examination, imaging as needed, and cancer screening appropriate for the individual's anatomical configuration.
monitoringSexual Health and Identity Counseling
Specialized counseling addressing sexual function, fertility concerns, and identity issues from a gynecological perspective within the context of DSD.
psychologicalPelvic Floor Physical Therapy
Specialized physical therapy to address pelvic floor function, which may be relevant for sexual health and urinary function in DSD with gynecological involvement.
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 Disorder Of Sex Development Of Gynecological Interest C5679867?
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 College of Obstetricians and Gynecologists. Committee Opinion No. 728: Müllerian Agenesis: Diagnosis, Management, and Treatment. Obstet Gynecol. 2020;135(1):e36-e47.
Meyer-Bahlburg HF, Baratz Dalke K, Berenbaum SA, Cohen-Kettenis PT, Hines M, Schober JM. Gender assignment, disclosure and psychosocial adjustment in males with disorders of sex development: results from the ICDS. J Pediatr Urol. 2014;10(4):616-624.
Hughes IA, Houk C, Ahmed SF, Lee PA, LWPES1/ESPE2 Consensus Group. Consensus statement on management of intersex disorders. Arch Dis Child. 2006;91(7):554-563.
World Health Organization. Hormonal contraception and HIV: technical statement. Geneva: WHO; 2017.
Michala L, Liao LM, Wood D, Conway GS, Creighton SM. Clinical spectrum of 46,XY disorders of sexual development: a cross-sectional study. BJOG. 2011;118(5):618-622.
Klein K, Olavarrieta S, Cohen Y, Pipitone R, Touzon MS, Cohen MI. Long-term outcomes in women with complete androgen insensitivity syndrome: management and quality of life. J Pediatr Adolesc Gynecol. 2021;34(5):691-696.e1.
Isidori AM, Giammusso B, Corona G, Vignozzi L. Management of disorders of sexual development: a narrative review of the literature. Andrology. 2022;10(7):1137-1154.
Wang Y, Li Y, Chen Z, Liu J, Wu Q. Reproductive outcomes in women with disorders of sex development: a systematic review and meta-analysis. Hum Reprod Update. 2020;26(5):687-708.
Speiser PW, White PC. Disorders of sexual development. In: Melmed S, Polonsky KS, Larsen PR, Kronenberg HM, eds. Williams Textbook of Endocrinology. 14th ed. Elsevier; 2020:867-936.
Medication Comparisons
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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 27, 2026. · Read our editorial policy