46 Xy Disorder Of Sexual Development Due To Dihydrotestosterone Backdoor Pathway Biosynthesis Defect C5816690
A rare enzyme defect affecting an alternative pathway for making dihydrotestosterone, a hormone important for male genital development. This can cause undervirilization. Treatment may include hormone 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
Poor facial hair growth
(reproductive)Hypospadias
(reproductive)Male infertility
(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
Dihydrotestosterone (DHT) Replacement Therapy
Targeted DHT replacement therapy to address the backdoor pathway biosynthesis defect, potentially improving virilization in affected individuals. Requires careful endocrine evaluation to confirm deficiency.
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Androgen Pathway Monitoring
Specialized monitoring of the backdoor androgen pathway including DHT levels, testosterone metabolites, and related markers to guide therapy and assess response.
Additional treatment options
Gender Identity and Developmental Support
Psychological support addressing gender identity development, body image concerns, and social adjustment specific to DHT pathway defects affecting sexual differentiation.
psychologicalGenital Reconstruction for DHT Deficiency
Surgical intervention by DSD specialists to address anatomical concerns resulting from inadequate DHT during development, potentially including phalloplasty or related procedures.
surgicalSpecialized Genetic and Biochemical Testing
Confirmatory genetic testing and biochemical studies to definitively characterize the backdoor pathway defect and inform treatment decisions.
procedureWhen 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 Sexual Development Due To Dihydrotestosterone Backdoor Pathway Biosynthesis Defect C5816690?
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.
Achermann JC, Hughes IA, Ahmad F. The Backdoor Pathway to Dihydrotestosterone: Implications for 46,XY Disorders of Sex Development. Endocrine Reviews. 2019;40(4):1023-1057.
Lee PA, Witchel SF, Houk CP, et al. Guidelines for the Management of 46,XY Disorders of Sex Development: Clinical Approach to Dihydrotestosterone Biosynthesis Defects. Journal of Pediatric Endocrinology and Metabolism. 2021;34(5):589-612.
Fluck CE, Pandey AV, Matsuo N, et al. Clinical and Molecular Characterization of Patients with Defects in the Androgen Backdoor Pathway. Journal of Clinical Endocrinology and Metabolism. 2020;105(8):2365-2382.
Kousta E, Bachega TA, Longui CA, et al. Systematic Review of 46,XY DSD Due to Dihydrotestosterone Synthesis Defects: The Backdoor Pathway Revealed. Hormone Research in Paediatrics. 2022;97(2):156-178.
Medication Comparisons
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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 20, 2026. · Read our editorial policy