Diagnosis and Management of Congenital Adrenal
Hyperplasia: 20-Year Experience in
Songklanagarind Hospital
Somchit Jaruratanasirikul MD*,
Therdpong Thongseiratch MD*
Affiliation :
* Department of Pediatrics, Faculty of Medicine, Prince of Songkla University, Hat Yai, Songkhla, Thailand
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 3β-hydroxysteroid
dehydrogenase (3β-HSD) deficiency (4.5%). The stimulated cortisol level was <18 μg/dL in most patients, with 20 cases
of 21-OHDSV having a median level of 19.49 μg/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 3β-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.
Keywords : Adrenal crisis, Adrenal insufficiency, Ambiguous genitalia, Congenital adrenal hyperplasia, Precocious
pseudopuberty
All Articles
Download