Diagnosis and management of congenital adrenal hyperplasia: 20-year experience in Songklanagarind Hospital.

OBJECTIVE

To describe the types of congenital adrenal hyperplasia (CAH) in Thai children, and the clinical and laboratory findings associated with each type.

MATERIAL AND METHOD: The medical records of CAH patients, aged 0 to 15 years, were retrospectively reviewed.

RESULTS

During the 20-year period (1991-2011), there were 66 CAH patients. The most common type was salt-wasting 21-hydroxylase deficiency (21-OHDSW) (59.1%), followed by simple virilizing 21-hydroxylase deficiency (21-OHDSV) (30.3%), 20, 22-desmolase/steroidogenic acute regulatory protein (20,22D/StAR) deficiency (6.1%), and 3beta-hydroxysteroid dehydrogenase (3beta-HSD) deficiency (4.5%). The stimulated cortisol level was < 18 microg/dL in most patients, with 20 cases of 21-OHDSV having a median level of 19.49 microg/dL. The median basal 17-hydroxyprogesterone (17-OHP) levels were markedly elevated in 21-OHDSW and 21-OHDSV patients (20,264 and 5,985 ng/dL, respectively), but was very low in 20, 22D/StAR deficiency patients (260 ng/dL). Bilateral adrenal enlargement, demonstrated by radioimaging, was helpful for diagnosis of 20,22D/StAR and 3beta-HSD deficiency

CONCLUSION

The most common type of CAH in our population was 21-hydroxylase deficiency. The steroid profile of cortisol, 17-OHP and testosterone levels is helpful for clinical diagnosis of 21-OH deficiency. The low 17-hydroxyprogesterone and low cortisol levels in phenotypic female infant with salt-wasting crisis suggests the diagnosis of 20, 22D/StAR deficiency CAH.