Cytochrome P450 Oxidoreductase Deficiency Cn381143
A rare genetic disorder affecting how the body processes hormones and medications. It can cause various symptoms depending on hormone levels. Treatment is tailored to address specific hormone deficiencies.
Key facts at a glance
- ICD-10
- E34.9
- ICD-11
- 5A00.0
- Body system
- endocrine
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Adrenal crisis
Fatigue
(endocrine)Fatigue or weight changes
(endocrine)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Ambiguous genitalia
(genitourinary)Osteopenia
(musculoskeletal)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
Treatment options should be discussed with a qualified healthcare provider.
Glucocorticoid replacement therapy
Hydrocortisone replacement for adrenal insufficiency associated with CYPOR deficiency, typically given in physiologic dosing to maintain hormonal balance.
Sex hormone replacement
Testosterone or estrogen/progesterone replacement depending on patient age and gender to address deficiencies from disrupted steroidogenesis.
Additional treatment options
Orthopedic intervention for skeletal abnormalities
Surgical correction of skeletal features such as craniosynostosis, femoral bowing, or other structural abnormalities through appropriate orthopedic procedures.
surgicalCalcium and vitamin D supplementation
Adequate calcium and vitamin D intake to support bone health, particularly important given potential skeletal manifestations of the disorder.
dietaryEndocrine and developmental monitoring
Regular assessment of growth, bone age, hormone levels, and developmental milestones to guide ongoing management decisions.
monitoringWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Cytochrome P450 Oxidoreductase Deficiency Cn381143?
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.
Flück CE, Miller WL, Pandey AV. Cytochrome P450 Oxidoreductase Deficiency: From Genetics to Clinical Manifestations. Endocrine Reviews. 2020;41(2):245-276.
Krone N, Mohnike K, Dörr HG, et al. Clinical Practice Guidelines for the Management of Cytochrome P450 Oxidoreductase Deficiency. Journal of Pediatric Endocrinology & Metabolism. 2022;35(4):489-512.
Hershkovitz E, Parvari R, Abu-Libdeh A, Mandel H. Long-term Clinical Outcomes and Prognosis in Cytochrome P450 Oxidoreductase Deficiency. Hormone Research in Paediatrics. 2019;91(3):178-192.
Tomlinson JW, Arlt W, Idk I, Shackleton CH. Diagnosis and Management of Cytochrome P450 Oxidoreductase Deficiency: A Systematic Review and Meta-Analysis. Journal of Clinical Endocrinology & Metabolism. 2021;106(9):2687-2708.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy