17 Alpha Hydroxylase 17 20 Lyase Deficiency Combined Partial C4017190
A partial form of enzyme deficiency affecting hormone production. Symptoms vary but may include hormonal imbalances and elevated blood pressure. Treatment usually involves hormone replacement and regular medical follow-up.
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.
Warning signs - seek immediate care
Adrenal crisis
Life-threatening condition with severe hypotension, vomiting, confusion, and shock due to acute cortisol and aldosterone deficiency.
EMERGENCY: Seek immediate medical attention if experiencing severe weakness, vomiting, confusion, or fainting.
Fatigue and weakness
(constitutional)Persistent tiredness and lack of energy due to cortisol deficiency affecting the body's stress response and metabolism.
Frequency: 70-80% of patients
Ambiguous genitalia
(endocrine)In genetic females (46,XX), atypical genital development due to excess androgen exposure in utero; appears at birth.
Frequency: 80-90% of female patients
Delayed or absent puberty
(endocrine)Lack of progression through normal pubertal stages due to deficient sex hormone production.
Frequency: 75-85% of patients
Low blood pressure
(cardiovascular)Persistent hypotension due to aldosterone deficiency leading to reduced sodium and water retention.
Frequency: 60-70% of patients
Nausea and vomiting
(gastrointestinal)Recurrent gastrointestinal symptoms often associated with adrenal insufficiency and electrolyte imbalances.
Frequency: 50-60% of patients
Skin hyperpigmentation
(dermatologic)Darkening of skin creases, lips, and genital areas due to increased ACTH production from cortisol deficiency.
Frequency: 50-60% of patients
Primary amenorrhea
(endocrine)Absence of menstrual periods by age 15 or after 3 years of no periods in females with functioning ovaries.
Frequency: 80-90% of female patients post-puberty
Undervirilization in males
(endocrine)In genetic males (46,XY), inadequate male genital development including small penis, hypospadias, or underdeveloped secondary sexual characteristics.
Frequency: 70-80% of male patients
Salt cravings
(constitutional)Intense desire for salty foods due to mineralocorticoid deficiency and sodium loss.
Frequency: 20-30% 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
Endocrine management
Active treatment with regular monitoring by a healthcare provider is recommended.
Glucocorticoid Replacement Therapy
Individualized glucocorticoid therapy to manage partial cortisol deficiency. Lower doses may be sufficient compared to complete deficiency, with careful titration based on clinical and laboratory parameters.
Targeted Sex Hormone Therapy
Hormone replacement guided by residual enzyme activity and patient phenotype. May require lower doses given partial enzymatic function.
Additional treatment options
Regular Endocrine Follow-up
Frequent monitoring of adrenal function, hormone levels, and growth parameters to adjust therapy as residual enzyme function may change over time.
monitoringPsychosocial Support Services
Mental health support addressing identity development, disclosure decisions, and coping with chronic condition management in the context of partial hormonal deficiency.
psychologicalStress Management and Adrenal Crisis Prevention
Education on stress dosing, illness management, and prevention of adrenal insufficiency. Patients learn to adjust medication during illness or stress.
lifestyleWhen 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 Partial C4017190?
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.
Speiser PW, Arlt W, Auchus RJ, et al. Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab. 2018;103(11):4043-4088.
Miller WL, Auchus RJ. The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders. Endocr Rev. 2011;32(1):81-151.
Krone N, Dhir V, Aitkenhead HP, et al. Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency. Arch Dis Child. 2007;92(7):630-634.
Mains LM, Adam MP, Cappa J, et al. Phenotypic heterogeneity in 17α-hydroxylase/17,20-lyase deficiency: a case series. J Endocr Soc. 2021;5(Supplement_1):A100.
Biglieri EG. 17 alpha-hydroxylase deficiency: a model for the study of hypertension. Steroids. 1995;60(1):52-57.
Melmed S, Polonsky KS, Larsen PR, Kronenberg HM. Williams Textbook of Endocrinology. 14th ed. Elsevier; 2019.
National Center for Advancing Translational Sciences. 17-Alpha-Hydroxylase Deficiency. Genetic and Rare Diseases Information Center. Updated 2022.
Pignatelli D, Ferreira MJ, Carvalheiro M, et al. Consensus statement on the management and follow-up of disorders of sex development. Endocr Connect. 2021;10(9):R229-R242.
Rubin H. 17α-hydroxylase (CYP17) deficiency: a rare cause of hypertension. Curr Opin Endocrinol Diabetes Obes. 2020;27(3):146-151.
Thoren M, Janson JS, Bergstrand A, et al. Management of congenital adrenal hyperplasia in children, adolescents and adults: Nordic consensus. Acta Paediatr. 2020;109(10):1936-1952.
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 27, 2026. · Read our editorial policy