45 X 46 Xy Mixed Gonadal Dysgenesis Cn279762
A chromosomal variation affecting sexual development. Involves differences in gonadal tissue and may affect physical development. Care involves hormonal support and multidisciplinary management.
Key facts at a glance
- ICD-10
- Q55.9
- ICD-11
- LA00.0
- Body system
- reproductive
- Severity
- moderate
- 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, with potential for malignant transformation.
URGENT: Any pelvic mass, abdominal pain, or rapid virilization requires immediate evaluation for possible gonadoblastoma. Regular screening with ultrasound recommended.
Coarctation of the aorta
Narrowing of the aorta that restricts blood flow, potentially causing hypertension and heart strain.
URGENT: Severe hypertension, chest pain, or symptoms of heart failure require immediate medical attention.
Ambiguous genitalia
(reproductive)External genitalia that does not appear typically male or female at birth due to abnormal gonadal development.
Frequency: 70-80% of patients
Gonadal dysgenesis
(reproductive)Underdeveloped or abnormal gonadal tissue that does not function properly, resulting in impaired hormone production.
Frequency: Present in nearly all patients
Primary amenorrhea
(reproductive)Absence of menstrual periods by age 15 or after 3 years of no menstruation following breast development.
Frequency: 60-70% of patients with female phenotype
Short stature
(constitutional)Height below the expected range for age and genetic background, often becoming apparent in childhood.
Frequency: 50-60% of patients
Testosterone deficiency
(reproductive)Low levels of testosterone due to inadequate gonadal function, affecting sexual development and secondary characteristics.
Frequency: 50-60% of patients
Delayed puberty
(reproductive)Absence or incomplete progression of puberty at the expected age, including lack of breast development or testicular growth.
Frequency: 40-50% of patients
Webbed neck
(dermatologic)Excess skin folds along the sides of the neck, a feature also seen in Turner syndrome.
Frequency: 10-15% of patients
Infertility
(reproductive)Inability to conceive naturally due to gonadal dysfunction and impaired gamete production.
Frequency: 80-90% 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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Gonadectomy with malignancy risk reduction
Prophylactic surgical removal of streak gonads or dysgenetic gonadal tissue due to significantly elevated risk of gonadoblastoma and germ cell tumors.
Hormone replacement therapy
Estrogen or testosterone replacement therapy following gonadectomy to maintain secondary sexual characteristics, bone health, and metabolic function.
Additional treatment options
Psychological support and counseling
Comprehensive mental health support addressing gender identity concerns, adjustment issues, and coping strategies for individuals with differences of sex development.
psychologicalLong-term tumor surveillance program
Regular imaging and biochemical monitoring if gonads are not removed, including ultrasound and tumor markers for early detection of malignancy.
monitoringFertility preservation counseling
Discussion of potential fertility options including gonadal tissue cryopreservation where technically feasible and ethically appropriate.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is 45 X 46 Xy Mixed Gonadal Dysgenesis Cn279762?
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. Archives of Disease in Childhood. 2006.
Lee PA, Houk CP, Ahmed SF, Hughes IA. Consensus statement on management of intersex disorders: International Intersex Consensus Conference. Journal of Pediatric Urology. 2007.
Michala L, Liao LM, Wood D, Conway GS, Creighton SM. Clinical features of 45,X/46,XY mosaicism: a retrospective review. European Journal of Medical Genetics. 2011.
Ljubicic ML, Jorgensen A, Kousta E, et al. Clinical phenotype and management of 45,X/46,XY mosaicism: a multi-center cohort study. Journal of Clinical Endocrinology and Metabolism. 2020.
Cools M, Drop SLS, Wolffenbuttel KP, Oosterhuis JW, Looijenga LHJ. Germ cell tumors in the spectrum of disorders of sex development: a systematic review. Sexual Development. 2017.
American Academy of Pediatrics. Section on Endocrinology. Clinical guidelines for the management of disorders of sex development. Pediatrics. 2008.
Grumbach MM, Hughes IA, Conte FA. Disorders of sexual differentiation. In: Larsen PR, editor. Williams Textbook of Endocrinology. 12th ed. Elsevier; 2011.
Nistala M, Haney A, Killeen A, Rogol A. 45,X/46,XY mosaicism: diagnostic and therapeutic considerations. Current Opinion in Endocrinology, Diabetes and Obesity. 2019.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 26, 2026. · Read our editorial policy