46 Xy Difference Of Sex Development Due To A Defect In Testosterone Metabolism By Peripheral Tissue C5816696
A condition where the body cannot properly convert testosterone to DHT in peripheral tissues. Affects 46,XY individuals, causing atypical genital development. Treatment involves hormone replacement.
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.
Warning signs - seek immediate care
Hypertension
Elevated blood pressure sometimes associated with underlying metabolic disturbances.
Seek immediate care for severely elevated blood pressure or associated symptoms.
Ambiguous genitalia
(genitourinary)External genitalia that does not appear typically male or female due to incomplete male genital development.
Frequency: 90-100% of patients
Micropenis
(genitourinary)Abnormally small penis size for age, often with normal erectile function.
Frequency: 70-80% of patients
Hypospadias
(genitourinary)Urethral opening located on the underside of the penis instead of the tip.
Frequency: 50-60% of patients
Reduced body hair
(dermatologic)Decreased or absent male-pattern body and facial hair growth due to insufficient testosterone effect.
Frequency: 60-70% of patients
Infertility
(reproductive)Inability to produce viable sperm, often due to abnormal testicular function or structure.
Frequency: 80-90% of patients
Undescended testes
(genitourinary)Testes that have not moved into the scrotum by birth or early infancy.
Frequency: 40-50% of patients
Delayed puberty
(endocrine)Absence or incomplete progression of puberty due to testosterone deficiency.
Frequency: 70-80% of patients
Decreased muscle mass
(constitutional)Reduced muscle bulk and strength due to insufficient anabolic effects of testosterone.
Frequency: 50-60% of patients
Gender dysphoria
(psychiatric)Distress or discomfort with assigned gender due to discordance between genital appearance and gender identity.
Frequency: 15-25% 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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Topical Dihydrotestosterone (DHT) Therapy
Local application of DHT gel or cream to promote virilization of external genitalia, bypassing the peripheral metabolism defect to achieve androgen-dependent development.
Systemic Testosterone Supplementation
Parenteral or transdermal testosterone to achieve adequate systemic androgen levels, supporting male secondary sex characteristic development.
Additional treatment options
Gender Identity and Adjustment Support
Psychological services addressing the unique challenges of partial androgen insensitivity, including identity development, reproductive concerns, and family dynamics.
psychologicalBreast Tissue Assessment
Regular evaluation of breast development given variable sensitivity to residual androgens, with discussion of reduction options if distress occurs.
monitoringGenitourinary Reconstruction
Surgical intervention to address ambiguous genitalia, hypospadias, or cryptorchidism based on individual anatomy and gender identity, typically staged procedures.
surgicalWhen 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 Difference Of Sex Development Due To A Defect In Testosterone Metabolism By Peripheral Tissue C5816696?
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.
Endocrine Society. Clinical Practice Guidelines: Management of Congenital Adrenal Hyperplasia. J Clin Endocrinol Metab. 2018;103(7):4043-4068.
Kaefer M, Diamond D, Herman J, et al. Management of Differences of Sex Development: Position Statement from the American Academy of Pediatrics. Pediatrics. 2022;149(1):e2021054422.
Ahmed SF, Achermann JC, Arlt W, et al. UK Guidance on the Initial Evaluation of a Newborn with Suspected Disorders of Sex Development. Clin Endocrinol (Oxf). 2021;94(5):740-756.
Lee PA, Houk CP, Ahmed SF, et al. Consensus Statement on Management of Intersex Disorders. Pediatrics. 2006;118(2):e488-e500.
Mendonca BB, Domenice S, Arnhold IJ, Costa EM. 46,XY Disorders of Sex Development (DSD). Clin Endocrinol (Oxf). 2009;70(2):173-187.
European Society for Pediatric Endocrinology. ESPE Guidelines: Disorders of Sex Development. J Pediatr Endocrinol Metab. 2020;33(9):1-23.
Bouchard S, Forest MG. 5-Alpha-Reductase Deficiency. In: Endotext [Internet]. MDText.com; 2021.
Melmed S, Auchus RJ, Goldfine AB, Koenig RJ, Rosen CJ, eds. Williams Textbook of Endocrinology. 14th ed. Elsevier; 2020.
Costa EM, Mendonca BB. Long-Term Outcome in 46,XY Patients with 5-Alpha-Reductase Type 2 Deficiency. J Clin Endocrinol Metab. 2017;102(7):2407-2417.
World Health Organization. Sexual Health and Human Rights: Current Issues and Challenges. WHO Press; 2022.
Medication Comparisons
Compare medications used to treat 46 Xy Difference Of Sex Development Due To A Defect In Testosterone Metabolism By Peripheral Tissue C5816696. 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 20, 2026. · Read our editorial policy