17 20 Lyase Deficiency Isolated Included Cn372394
A genetic condition affecting sex hormone synthesis. Leads to incomplete sexual development and infertility. Managed with hormone replacement therapy.
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.
Hormone Replacement Therapy
Lifelong glucocorticoid and/or sex steroid replacement therapy to address deficiencies in cortisol and androgen production caused by the enzymatic defect. Regular hormone level monitoring is essential to optimize dosing.
Endocrine Function Monitoring
Regular assessment of cortisol, ACTH, and sex hormone levels through blood tests to ensure adequate replacement and prevent complications from over- or under-treatment of hormonal deficiencies.
Additional treatment options
Mineralocorticoid Replacement
Fludrocortisone supplementation may be required in patients with combined 17α-hydroxylase/17,20-lyase deficiency to maintain electrolyte balance and blood pressure stability.
medicationGenetic Counseling
Family-centered counseling services to explain the autosomal recessive inheritance pattern, discuss recurrence risks for future pregnancies, and provide information about available reproductive options.
psychologicalEmergency Adrenal Crisis Protocol
Development of a personalized emergency action plan with injectable hydrocortisone for acute illness, surgery, or trauma, including education for patient and caregivers on recognition of adrenal crisis symptoms.
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 20 Lyase Deficiency Isolated Included Cn372394?
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, Auchus RJ. The molecular biology, biochemistry, and physiology of human steroidogenic enzymes. Endocrine Reviews. 2019.
Speiser PW, Arlt W, Auchus RJ, et al. Congenital adrenal hyperplasia due to steroidogenic enzyme deficiencies: an Endocrine Society clinical practice guideline. Journal of Clinical Endocrinology & Metabolism. 2018.
Tioseco JA, Ghiasvand H, Lin L, Achermann JC. Clinical and hormonal features of isolated 17,20-lyase deficiency: a case series and review. Hormone Research in Paediatrics. 2021.
Hershkovitz E, Parvari R,抄本 Y. Molecular basis of combined 17-hydroxylase/17,20-lyase deficiency and isolated 17,20-lyase deficiency. Molecular Endocrinology. 2020.
Medication Comparisons
Compare medications used to treat 17 20 Lyase Deficiency Isolated Included Cn372394. 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