17 Alpha Hydroxylase 17 20 Lyase Deficiency Combined Complete Cn042980
A rare enzyme deficiency affecting hormone production, leading to low sex hormones and elevated blood pressure. Lifelong hormone replacement therapy is typically needed. Ongoing medical monitoring helps manage associated health concerns.
Key facts at a glance
- ICD-10
- E34.9
- ICD-11
- 5A00.0
- Body system
- endocrine
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Fatigue or weight changes
(endocrine)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
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
Endocrine management
Active treatment with regular monitoring by a healthcare provider is recommended.
Glucocorticoid Replacement Therapy
Physiological glucocorticoid replacement to correct cortisol deficiency and suppress elevated ACTH levels. Typically hydrocortisone or prednisone is used to prevent adrenal crisis and reduce androgen excess.
Sex Steroid Replacement
Estrogen or testosterone replacement therapy to induce puberty and maintain secondary sexual characteristics. Treatment is individualized based on assigned gender and patient preferences.
Additional treatment options
Genitoplasty
Surgical intervention for ambiguous genitalia to achieve functional and aesthetic outcomes aligned with gender assignment. Typically performed in infancy or delayed until patient can participate in decision-making.
surgicalPsychological Support and Counseling
Comprehensive psychological support including mental health evaluation, gender identity counseling, and family therapy to address the psychosocial aspects of disorder of sex development diagnosis.
psychologicalEndocrine and Bone Density Monitoring
Regular monitoring of hormone levels, bone density scans, and metabolic parameters to assess treatment efficacy and prevent complications such as osteoporosis.
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 17 Alpha Hydroxylase 17 20 Lyase Deficiency Combined Complete Cn042980?
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.
Miller WL, Tee MK. Disorders of sex development and primary adrenal insufficiency with 17α-hydroxylase deficiency. Endocr Rev. 2022.
Endocrine Society Clinical Guidelines Committee. Management of Congenital Adrenal Hyperplasia and Related Disorders: 2020 Clinical Practice Guideline. J Clin Endocrinol Metab. 2020.
Krone N, Hanley NA, Arlt W. CYP17A1 mutations in patients with combined 17α-hydroxylase and 17,20-lyase deficiency. Horm Metab Res. 2019.
Baquedano MS, Guercio G, Ramirez P. Long-term outcomes in disorders of adrenal steroidogenesis: A systematic review. Endocr Pract. 2023.
Medication Comparisons
Compare medications used to treat 17 Alpha Hydroxylase 17 20 Lyase Deficiency Combined Complete Cn042980. 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 25, 2026. · Read our editorial policy