46 Xy Ovotesticular Disorder Of Sex Development C2697358
A condition where an individual with 46,XY chromosomes has both ovarian and testicular tissue. Genital appearance varies widely. Management depends on individual factors and may include hormone therapy and surgery.
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 gonad, more common in individuals with Y chromosome material.
URGENT: Any pelvic mass, pain, or rapid growth requires immediate imaging and oncologic evaluation.
Ambiguous genitalia
(reproductive)External genitalia that do not clearly appear male or female due to mixed gonadal tissue.
Frequency: 90-100% of patients
Micropenis
(reproductive)Abnormally small penis size in genetic males, often with underdeveloped erectile tissue.
Frequency: 60-70% of patients
Clitoromegaly
(reproductive)Enlarged clitoris in genetic females, often resembling a small penis.
Frequency: 40-50% of patients
Hypospadias
(reproductive)Urethral opening located on the underside of the penis instead of the tip.
Frequency: 50-60% of patients
Primary amenorrhea
(reproductive)Failure to begin menstruation by age 15 or within 3 years of breast development.
Frequency: 60-70% of patients
Absent secondary sexual characteristics
(reproductive)Lack of typical pubertal changes such as breast development, body hair, or voice deepening.
Frequency: 50-60% of patients
Infertility
(reproductive)Impaired ability to produce viable gametes due to abnormal gonadal development.
Frequency: 70-80% of patients
Cryptorchidism
(reproductive)Undescended testicles that remain in the abdomen or inguinal canal rather than the scrotum.
Frequency: 40-50% of patients
Hormonal imbalance
(endocrine)Abnormal levels of sex hormones (testosterone, estrogen) leading to mixed phenotypic features.
Frequency: 60-70% 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
Gonadal Surgery and Gender-Affirming Procedures
Surgical intervention to remove undesired gonadal tissue and create appropriate external genitalia based on gender assignment, following comprehensive psychosocial evaluation.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Multidisciplinary Psychosocial Support
Comprehensive psychological support including individual therapy, family counseling, and peer support to address gender identity, disclosure decisions, and adjustment challenges.
Additional treatment options
Hormone Therapy
Appropriate hormone replacement or suppression therapy based on gender assignment and gonadal function to support pubertal development and maintain metabolic health.
medicationGonadal Tumor Surveillance
Regular imaging and tumor marker surveillance given increased malignancy risk in gonadal tissue, with frequency based on specific tissue types present.
monitoringFertility Preservation Counseling
Discussion and potential banking of reproductive tissue when appropriate, with referral to reproductive specialists for comprehensive fertility options.
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 Ovotesticular Disorder Of Sex Development C2697358?
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.
American Academy of Pediatrics. Evaluation of the newborn with developmental anomalies of external genitalia. Pediatrics. 2000;106(4):844-847.
Mendoza N, Motos MA. Androgen insensitivity syndrome: an update. gynecol Endocrinol. 2022;38(1):4-9.
Hughes IA, Houk C, Ahmed SF, Lee PA. Consensus statement on management of intersex disorders. Arch Dis Child. 2006;91(7):554-563.
Grinspon RP, Rey RA. Disorders of sex development: pediatric endocrinology. Curr Opin Endocrinol Diabetes Obes. 2020;27(1):49-56.
Speiser PW, Arlt W, Auchus RJ, Baskin LS, Conway GS, Merke DP, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2018;103(11):4043-4088.
Ahmed SF, Achermann JC, Arlt W, Balen A, Conway G, Edwards Z, et al. UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development. Clin Endocrinol (Oxf). 2011;75(1):12-26.
Melmed S, Auchus RJ, Goldfine AB, Koenig RJ, Rosen CJ, eds. Williams Textbook of Endocrinology. 14th ed. Elsevier; 2019.
Moshiri M, Chapman T, Fechner PY, Dubinsky TJ, Harkness S, Otjen V, et al. Evaluation and management of disorders of sex development: multidisciplinary approach to a complex condition. Radiographics. 2015;35(2):487-504.
Cools M, Simmonds M, Elford S, Wolter K, Guran T, Romao RLP, et al. Response to the Council of Europe recommendation on the rights of the child with variations of sex characteristics: a systematic review and update on legislative and medical progress. Eur J Pediatr. 2022;181(9):3193-3206.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy