Diagnosis and Assessment of Disease
Figure 1. Diagnosis of CAH After Infancy
Baseline 17-OHP
6-300 nmol/L
(200-10,000 ng/dL)
Likely nonclassic
CAH
> 300 nmol/L
(> 10,000 ng/dL)
Likely classic CAH
< 6 nmol/L
(< 200 ng/dL)
Likely unaffected or
NCCAH
17-OHP post-ACTH
stimulation test
> 300 nmol/L
(10,000 ng/dL)
Classic CAH
31-300 nmol/L
(1,000-10,000 ng/dL)
NCCAH
< 30 nmol/L
(< 990 ng/dL)
Likely unaffected
or heterozygote
Note: Steroid measurements may differ with the assay employed.
Selecting a Treatment Regimen
Prenatal Treatment of CAH
ÎÎThe Endocrine Society (ES) recommends that prenatal therapy continue to
be regarded as experimental. Thus the ES does not recommend specific
treatment protocols.
Medical Treatment of CAH in Growing Patients
ÎÎPrescribe maintenance therapy with hydrocortisone (HC) tablets in growing
patients with classic CAH (1|⊕⊕⊕).
ÎÎDo NOT maintain the use of oral HC suspension. Do NOT use chronic longacting potent glucocorticoids (GCs) in growing patients (1|⊕⊕).
ÎÎMonitor patients for signs of GC excess, as well as for signs of inadequate
androgen suppression (1|⊕⊕).
ÎÎTreat all patients with classic CAH with fludrocortisone and sodium chloride
supplements in the newborn period and early infancy (1|⊕⊕).
