explore the potential of the CRF pathway for androgen management1
Treatment Challenges
Managing
CAH with GCs
alone may be a
tug-of-war, even when
following the 2018
Endocrine Society Guidelines
High GC doses can be used to manage adrenal androgen excess but carry risks for long-term comorbidities.1-5
The Endocrine Society recommends the following doses for CAH maintenance therapy:
Growing patients4: 10-15 mg/m2/day
Full-grown patients4: 15-25 mg/day
Longer-acting GCs are recommended only in certain scenarios6:
Patient who was compliant with hydrocortisone as an adolescent
Patient meeting goals
Continue hydrocortisone 3 times daily (5-10 mg with each meal)
Patient not meeting goals
Consider adding 1 mg prednisolone (0.5-2 mg is usually sufficient)
Patient improves
Consider transitioning to prednisolone twice daily*
Patient does not improve
Consider dexamethasone once daily (0.25-0.375 mg)†
*Prednisone use is discouraged due to inconsistent conversion to the active drug prednisolone at low doses.6
†In general, dexamethasone should be reserved for male patients with TARTs.6
GC=glucocorticoid; TART=testicular adrenal rest tumor.
Clinical guidelines recommend regular monitoring of labs
The Endocrine Society recommends that labs be consistently timed relative to GC and other treatments. GC metabolism and the short half-life of GCs affect lab values. CAH panels are available in many labs, and there are multiple noninvasive monitoring options.2,7-11
Measurement | Goal |
Serum androstenedione | At or near normal for age and sex |
Serum 17-OHP | 400-1200 ng/dL (12-36 nmol/L): normal values indicate overtreatment |
Serum testosterone | At or near normal (assess in context of gonadotropins and androstenedione) |
Progesterone (female patients) | <2 nmol/L (<0.6 ng/mL) in follicular phase for women trying to conceive |
Sodium | Normal (135-145 mEQ/L) |
Potassium | Normal (3.5-5.0 mEQ/L) |
Lab values are just one piece of the monitoring puzzle. The full clinical picture is what matters most.
17-OHP=17-hydroxyprogesterone.
The Endocrine Society guidelines recommend a holistic approach to CAH management2
Clinical exam:
- Growth velocity (pediatric)
- BMI
- Cushingoid features
- Blood pressure
- Mental health
Radiologic assessment:
- Bone age (pediatric)
- Bone mineral density (adult)
- TARTs (male adolescents and adults)
Lab monitoring:
- Androgens
- Progesterone
- Electrolyte panel
BMI=body mass index; TART=testicular adrenal rest tumor.
Having an open dialogue with your patient about goals and how they are feeling
is critical for optimizing treatment
is critical for optimizing treatment
REFERENCES
- Mallappa A, Merke DP. Management challenges and therapeutic advances in congenital adrenal hyperplasia. Nat Rev Endocrinol. 2022;18(6):337-352. doi:10.1038/s41574-022-00655-w
- 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. doi:10.1210/jc.2018-01865
- Caetano CM, Malchoff CD. Daily glucocorticoid replacement dose in adrenal insufficiency, a mini review. Front Endocrinol. 2022;13:897211. doi:10.3389/fendo.2022.897211
- Nowotny H, Ahmed SF, Bensing S, et al. Therapy options for adrenal insufficiency and recommendations for the management of adrenal crisis. Endocrine. 2021;71(3):586-594. doi:10.1007/s12020-021-02649-6
- Claahsen-van der Grinten HL, Speiser PW, Ahmed SF, et al. Congenital adrenal hyperplasia—current insights in pathophysiology, diagnostics, and management. Endocr Rev. 2022;43(1):91-159. doi:10.1210/endrev/bnab016
- Auchus RJ, Arlt W. Approach to the patient: the adult with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2013;98(7):2645-2655. doi:10.1210/jc.2013-1440
- Congenital adrenal hyperplasia (CAH) pediatric profile one-21-hydroxylase deficiency screen (Endocrine Sciences). Labcorp. Accessed August 4, 2024. https://www.labcorp.com/
tests/501568/congenitaladrenal-hyperplasia-cah-pediatric-profile-one-21-hydroxylase-deficiency-screen-endocrine-sciences - Congenital adrenal hyperplasia (CAH) test group I Adult (late-onset). Labcorp. Accessed August 4, 2024. https://specialtytesting.labcorp.com/
tests/503192/congenital-adrenal-hyperplasia-cah-test-group-i-adultlate-onset - Steroid panel, congenital adrenal hyperplasia. Quest Diagnostics. Accessed June August 4, 2024. https://testdirectory.questdiagnostics.com/
test/test-detail/90398/steroid-panel-congenital-adrenal-hyperplasia-cah?cc=MASTER - Adriaansen BPH, Kamphuis JS, Schroder MAM, et al. Diurnal salivary androstenedione and 17-hydroxyprogesterone levels in healthy volunteers for monitoring treatment efficacy of patients with congenital adrenal hyperplasia. Clin Endocrinol (Oxf). 2022;97(1):36-42. doi:10.1111/cen.14690
- Hindmarsh PC, Geertsma K. Congenital Adrenal Hyperplasia: A Comprehensive Guide. Elsevier/Academic Press; 2017.