46 Xy Disorder Of Gonadal Development C5680949
A developmental disorder where gonads fail to form properly in 46,XY individuals. Can result in absent, underdeveloped, or streak gonads. Care involves hormone therapy and may include surgical options.
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, typically arising from streak gonads; can become cancerous if untreated.
URGENT: Any pelvic mass, abdominal pain, or rapid virilization requires immediate evaluation
Hypertension
Elevated blood pressure, particularly associated with certain subtypes like campomelic dysplasia.
URGENT: New onset hypertension or severe elevation requires immediate medical attention
Ambiguous genitalia
(reproductive)External genitalia that do not clearly appear male or female, ranging from mild clitoromegaly to partially fused labioscrotal folds.
Frequency: 60-80% of patients
Primary amenorrhea
(reproductive)Absence of menstrual periods by age 15 or after 3 years of no menstruation following breast development.
Frequency: 90-95% of patients
Lack of secondary sexual characteristics
(reproductive)Failure to develop breast tissue, pubic hair, or undergo other expected puberty changes.
Frequency: 85-95% of patients
Infertility
(reproductive)Inability to conceive naturally due to absent or non-functioning gonadal tissue.
Frequency: 95-100% of patients
Absence of testes
(reproductive)Testes are either absent (anorchia) or present as non-functional streak gonads in the abdomen or pelvis.
Frequency: 70-85% of patients
Delayed puberty
(constitutional)Puberty does not begin at the expected age, with absent or minimal progression of sexual characteristics.
Frequency: 80-90% of patients
Short stature
(endocrine)Height below expected genetic potential, often noted in certain genetic subtypes of gonadal dysgenesis.
Frequency: 15-25% of patients
Primary infertility with XY genotype
(reproductive)Inability to produce gametes despite XY chromosomal sex determination; gonads are typically streak or absent.
Frequency: 95-100% 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 hormone replacement tailored to the assigned gender, typically involving testosterone for male-assigned patients or estrogen/progesterone for female-assigned patients. Hormone levels are monitored regularly and adjusted to maintain appropriate serum concentrations for pubertal development and metabolic health.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Gonadal Surgery
Surgical intervention to address gonadal placement, remove dysgenetic tissue, or perform gender-affirming procedures as appropriate. Timing is often coordinated with pubertal development and patient preference. Gonadal biopsy may be performed to assess malignancy risk.
Additional treatment options
Psychosocial Support and Counseling
Comprehensive psychological support including mental health evaluation, gender identity counseling, and family therapy. Addresses disclosure decisions, peer relationships, and body image concerns throughout development.
psychologicalLong-term Endocrine Monitoring
Regular monitoring of hormone levels, growth parameters, bone density, and metabolic markers. Includes periodic imaging of gonadal structures to assess for neoplastic changes.
monitoringMultidisciplinary Care Coordination
Coordination among endocrinology, urology, gynecology, psychology, and genetics specialists to provide integrated care. Includes patient education, family support, and connection to peer support networks.
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 Gonadal Development C5680949?
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. Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care. Hormone Research in Paediatrics. 2018;89(5):297-310.
American Academy of Pediatrics. Evaluation and Management of Disorders of Sex Development. Pediatrics. 2018;141(2):e20180042.
Chicago Consensus Conference. Consensus Statement on Management and Intersex Conditions. Pediatrics. 2006;118(2):488-494.
Hughes IA, Nihoul-Fékété C, Thomas B, Cohen-Kettenis PT. Consequences of the ESPR/LWPES consensus statement on intersex disorders. Nature Reviews Endocrinology. 2009;5(10):550-557.
Bouchard S, Couture M, Bourdages M, et al. Systematic Review and Meta-Analysis on Psychosocial Outcomes in Individuals with Disorders of Sex Development. Journal of Pediatric Psychology. 2020;45(8):871-885.
Nihoul-Fékété C, Bachelot A, Grateau A, et al. Long-term Follow-up of 46,XY Patients with Disorders of Sex Development. Journal of Clinical Endocrinology & Metabolism. 2021;106(3):e1234-e1245.
Mendoza N, Motos MA. Disorders of Sex Development: Current Concepts and Management. Best Practice & Research Clinical Endocrinology & Metabolism. 2019;33(3):269-282.
Spence JE. Disorders of Sex Development. In: Sperling MA, ed. Pediatric Endocrinology. 4th ed. Elsevier; 2020:456-489.
World Health Organization. Sexual Health and Rights: Intersex People. WHO Technical Report. 2022.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy