46 Xy Disorder Of Sex Development Due To A Testosterone Synthesis Defect C5680188
A disorder where the testes cannot produce adequate testosterone. Affects 46,XY individuals, leading to atypical genital development. Managed with hormone replacement therapy.
Key facts at a glance
- ICD-10
- N50.9
- ICD-11
- GA00.0
- Body system
- reproductive
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Ambiguous genitalia at birth
(reproductive)Generalized symptoms
(reproductive)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Undervirilization at puberty
(reproductive)Female external genitalia with blind vagina
(reproductive)Cryptorchidism
(reproductive)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
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Testosterone Replacement Therapy
Exogenous testosterone administration to induce and maintain male secondary sexual characteristics. Multiple formulations available including injectable, transdermal, and oral preparations selected based on patient preference and pharmacokinetics.
Gonadectomy
Surgical removal of intra-abdominal or inguinal gonads that are dysgenetic or at increased malignancy risk. May be performed before puberty or deferred based on patient/family preference and tissue biopsy results.
Additional treatment options
Fertility Preservation
Sperm banking or testicular tissue cryopreservation for patients with residual testicular function. May involve hormonal stimulation or surgical sperm extraction. Requires early discussion before gonadectomy.
medicationPsychological Support for Gender Identity
Specialized counseling to support patients navigating gender identity development, disclosure decisions, and family dynamics. May include individual, family, and peer support interventions.
psychologicalTumor Surveillance
Regular imaging and tumor marker surveillance for gonadal malignancy risk. Includes ultrasound of gonadal tissue and measurement of markers such as AFP, beta-hCG, and LDH.
monitoringWhen 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 Due To A Testosterone Synthesis Defect C5680188?
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.
Miller WL. Disorders of androgen synthesis: from cholesterol to dehydroepiandrosterone. Med Princ Pract. 2005;14 Suppl 1:58-68.
Mendonca BB, Batista RL, Domenice S, Costa EM, Arnhold IJ, Russell DW, et al. Steroid 5alpha-reductase 2 deficiency. J Steroid Biochem Mol Biol. 2016;163:206-211.
Chatterjee K, Bhowmik P, Sudevan R, Kumar S. Clinical and molecular spectrum of 17-beta-hydroxysteroid dehydrogenase deficiency: a narrative review. Indian J Endocrinol Metab. 2022;26(4):326-334.
Medication Comparisons
Compare medications used to treat 46 Xy Disorder Of Sex Development Due To A Testosterone Synthesis Defect C5680188. See side-by-side comparisons of effectiveness, side effects, costs, and more.
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 26, 2026. · Read our editorial policy