Adrenal Hyperplasia Congenital Due To 21 Hydroxylase Deficiency Late Onset Form C4017338
A genetic enzyme deficiency causing adrenal hyperplasia that appears later in life, often during adolescence or adulthood. Symptoms vary and are managed with hormone replacement therapy.
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.
Fatigue or weight changes
(endocrine)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Hirsutism
(integumentary)Irregular menses
(reproductive)Acne
(integumentary)Clitoromegaly
(reproductive)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.
Low-Dose Glucocorticoid Replacement
Physiological glucocorticoid replacement using hydrocortisone or other suitable agents addresses cortisol deficiency while attempting to suppress excess androgen production characteristic of late-onset 21-hydroxylase deficiency.
Metabolic and Hormonal Monitoring
Regular measurement of 17-hydroxyprogesterone, androgens, and electrolytes helps optimize treatment dosing and detect breakthrough androgen excess or under-replacement.
Additional treatment options
Anti-Androgen Therapy
In females with hirsutism or acne, anti-androgen medications such as spironolactone may be added to block androgen effects at target tissues.
medicationSodium Supplementation
Increased dietary sodium intake or supplemental salt may be recommended, particularly during hot weather or exercise, to help manage potential salt-wasting tendencies.
dietaryPsychological Support and Counseling
Counseling addresses body image concerns, fertility issues, and the psychological impact of managing a chronic hormonal condition. Support groups connecting patients with similar conditions provide valuable peer support.
psychologicalWhen 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 Adrenal Hyperplasia Congenital Due To 21 Hydroxylase Deficiency Late Onset Form C4017338?
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, Azziz R, Baskin LS, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2018.
Turcu AF, Nanba AT, Auchus RJ. The contribution of adrenal androgens to the hormonal phenotype of nonclassic congenital adrenal hyperplasia. Endocrinol Metab Clin North Am. 2021.
Mendoza-Caamal EC, González-Huerta LM, Rivera-Vega MR, et al. Low-dose dexamethasone suppression test in the diagnosis of late-onset 21-hydroxylase deficiency: a pilot study. J Pediatr Endocrinol Metab. 2020.
Krone N, Rose IT, Willis DS, et al. Genotype-phenotype correlation in 297 patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a meta-analysis. Eur J Endocrinol. 2022.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy