21 Hydroxylase Deficient Congenital Adrenal Hyperplasia C2936858
An inherited disorder affecting adrenal hormone production, causing cortisol deficiency and other hormonal imbalances. Features may include ambiguous genitalia, salt-wasting crises, and growth issues. Treated with lifelong 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.
Warning signs - seek immediate care
Adrenal Insufficiency
Inadequate cortisol production leading to fatigue, weakness, and inability to handle stress.
Seek immediate emergency care if experiencing severe weakness, vomiting, low blood pressure, or shock symptoms.
Salt-Wasting Crisis
Loss of sodium and potassium through urine causing dehydration, vomiting, and low blood pressure.
Seek immediate medical attention if infant shows persistent vomiting, lethargy, or failure to thrive.
Virilization
(endocrine)Excessive male hormone exposure causing ambiguous genitalia in females and early puberty signs in both sexes.
Frequency: 90-95% of females with classic CAH
Precocious Puberty
(endocrine)Early development of secondary sexual characteristics including pubic hair, body odor, and growth spurt.
Frequency: 70-80% of patients
Hirsutism
(dermatologic)Excessive hair growth on face, chest, and back in females due to androgen excess.
Frequency: 50-70% of patients
Chronic Fatigue
(constitutional)Persistent tiredness and low energy due to cortisol deficiency and metabolic disturbances.
Frequency: 60-70% of patients
Menstrual Irregularities
(reproductive)Irregular or absent menstrual periods in females due to hormonal imbalances.
Frequency: 50-60% of post-pubertal females
Hypoglycemia
(metabolic)Low blood sugar levels due to cortisol deficiency affecting glucose regulation.
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
Lifelong glucocorticoid replacement with hydrocortisone (preferred in children) or synthetic steroids maintains cortisol sufficiency. This essential therapy prevents adrenal crisis and suppresses excess androgen production.
Mineralocorticoid Replacement
Fludrocortisone replacement is required for salt-wasting forms to maintain electrolyte balance and blood pressure. Adequate sodium intake and regular monitoring ensure optimal mineralocorticoid function.
Additional treatment options
Androgen Suppression Monitoring
Regular monitoring of androgen levels (17-hydroxyprogesterone, androstenedione) guides treatment adequacy. Goal is to maintain normal growth and development while preventing androgen excess.
monitoringStress Dose Sick Day Management
Increased glucocorticoid dosing during illness, injury, or stress prevents adrenal crisis. Education on sick day rules, injectable hydrocortisone emergency kits, and medical alert identification is essential.
dietarySurgical Correction of Ambiguous Genitalia
Girls with virilized external genitalia may benefit from feminizing genitoplasty, typically performed in early childhood. Decision-making involves family counseling and should consider patient autonomy.
surgicalWhen 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 21 Hydroxylase Deficient Congenital Adrenal Hyperplasia C2936858?
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.
National Institute for Health and Care Excellence (NICE). Congenital Adrenal Hyperplasia in Children, Young People and Adults. NG193. London: NICE; 2021.
El-Maouche D, Arlt W, Merke DP. Congenital adrenal hyperplasia. Lancet. 2017;390(10108):2194-2210.
Claahsen-van der Grinten HL, Speiser PW, Ahmed SF, et al. Congenital adrenal hyperplasia: insights into pathophysiology and management. Endocr Rev. 2022;43(1):91-159.
European Society for Pediatric Endocrinology (ESPE). Consensus Statement on Management and Treatment of CAH. Horm Res Paediatr. 2019;91(6):416-421.
Merke DP, Auchus RJ. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. N Engl J Med. 2020;383(13):1248-1261.
Pasternak Y, Bachen N, Deutch M, et al. Management of congenital adrenal hyperplasia in children and adolescents: clinical practice guidelines. J Pediatr Endocrinol Metab. 2020;33(7):845-854.
Han TS, Walker BR, Arlt W, Ross RJ. Treatment and health outcomes in adults with congenital adrenal hyperplasia: a systematic review and meta-analysis. Endocr Rev. 2022;43(3):529-564.
Miller BS, Ross J, Saraoglou V, et al. Effects of continuous hydrocortisone therapy in infants and young children with salt-wasting congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2021;106(9):e3512-e3521.
Melmed S, Auchus RJ, Goldfine AB, Koenig RJ, Rosen CJ, eds. Williams Textbook of Endocrinology. 14th ed. Philadelphia: Elsevier; 2023. Chapter 16: Congenital Adrenal Hyperplasia.
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