46 Xy Disorder Of Sex Development Due To Testicular 17 20 Desmolase Deficiency C1839840
A rare genetic condition where the testes cannot make enough testosterone due to an enzyme deficiency. This affects genital development and puberty. Treatment includes hormone therapy and may involve surgery.
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 caused by accumulation of mineralocorticoid precursors due to blocked testosterone synthesis.
Seek immediate care for blood pressure above 180/120 mmHg, severe headache, chest pain, or vision changes.
Hypokalemia
Low potassium levels in blood due to mineralocorticoid excess from accumulated steroid precursors.
Seek immediate care for muscle weakness, irregular heartbeat, or severe fatigue, which may indicate dangerous potassium levels.
Ambiguous genitalia at birth
(genitourinary)External genitalia appear neither clearly male nor female due to insufficient testosterone production during fetal development.
Frequency: 90-100% of patients
Primary amenorrhea
(genitourinary)Complete absence of menstrual periods by age 15 or after 3 years of no menstruation following breast development.
Frequency: 90-100% of patients
Absent breast development
(genitourinary)Failure to develop breast tissue (Tanner stage 1) during puberty due to insufficient estrogen production.
Frequency: 85-95% of patients
Absent or sparse pubic hair
(genitourinary)Lack of pubic hair development (Tanner stage 1) at puberty due to androgen deficiency.
Frequency: 60-70% of patients
Fatigue
(constitutional)Persistent tiredness and low energy levels associated with hormonal imbalances and potential anemia.
Frequency: 40-50% of patients
Micropenis
(genitourinary)Abnormally small penis size at birth despite XY karyotype, resulting from insufficient testosterone during fetal development.
Frequency: 20-30% of patients
Short adult stature
(musculoskeletal)Final adult height below genetic potential due to delayed bone age and lack of sex steroid effects on growth plate closure.
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
Androgen Replacement Protocol
Testosterone replacement therapy using age-appropriate formulations to induce and maintain male secondary sexual development and metabolic functions.
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Plastic and Reconstructive Surgery
Phalloplasty or clitoral reduction procedures depending on sex assignment, typically performed after puberty to ensure patient participation in decision-making.
Additional treatment options
DSD-Specific Psychotherapy
Individual and family therapy addressing body image concerns, stigma, relationships, and sexual health within a culturally sensitive framework.
psychologicalGrowth and Puberty Assessment
Regular evaluation of linear growth, bone age, and pubertal progression to optimize timing of hormonal and surgical interventions.
monitoringFertility Counseling and Preservation
Reproductive endocrinology consultation to discuss potential fertility preservation options and future family planning considerations.
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 Sex Development Due To Testicular 17 20 Desmolase Deficiency C1839840?
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. International Consensus Conference on Intersex. Pediatrics. 2006;118(2):e488-e500.
Miller WL, Auchus RJ. The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders. Endocr Rev. 2011;32(1):81-151.
Auchus RJ, Miller WL. Defects in steroid hormone biosynthesis. In: Jameson JL, De Groot LJ, eds. Endocrinology: Adult and Pediatric. 7th ed. Elsevier; 2016:1650-1673.
Mendonca BB, Domenice S, Arnhold IJ, Costa EM, Bloise F, Martin RM, et al. 46,XY disorders of sex development (DSD). Clin Endocrinol (Oxf). 2009;70(2):173-187.
Hughes IA, Houk C, Ahmed SF, Lee PA. Consensus statement on management of intersex disorders. Arch Dis Child. 2006;91(7):554-563.
Krone N, Hanley AR, Arlt W. Age-specific changes in sex hormone-binding globulin, androgen and gonadotropins during childhood and puberty. Pediatr Endocrinol Rev. 2007;4(4):299-311.
Rubin C, Balducci E, Papadakis V, Rennebohm R, Kappy M. 46,XY disorder of sex development due to 17,20-desmolase deficiency. In: Pagon RA, Adam MP, Ardinger HH, et al., eds. GeneReviews [Internet]. University of Washington; 2018.
Gakis G, Krege S, Mertens LS, et al. European Association of Urology Guidelines on Testicular Cancer: 2022 Update. Eur Urol. 2022;81(3):291-302.
Endocrine Society. Clinical practice guidelines for the evaluation and management of disorders of sex development. J Clin Endocrinol Metab. 2008;93(7):e1-e25.
Melmed S, Polonsky KS, Larsen PR, Kronenberg HM. Williams Textbook of Endocrinology. 14th ed. Elsevier; 2019.
Medication Comparisons
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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