<p><b>OBJECTIVE</b>To gain more insight into
congenital adrenal hyperplasia (CAH) by analyzing the clinical data of
children with
21-hydroxylase-deficient CAH.</p><p><b>
METHODS</b>The clinical data of 52
children with
21-hydroxylase-deficient CAH were collected. Based on the
disease severity and the presence of
salt-losing manifestations, the
children were classified into three groups masculine type (n=15),
salt-losing type (n=28), and atypical type (n=9). The clinical data of
children with different types of CAH were analyzed and compared.</p><p><b>RESULTS</b>The
male-to-
female ratio of the 52 cases was 1.61; the
age of onset was less than 1 month after
birth in 41 cases; 4 cases had a positive
family history. Clitoral
hypertrophy was the most common symptom in
children with masculine CAH (87%).
Pigmentation (89%),
feeding difficulties and
growth retardation (61%) were the most common symptoms in
children with
salt-losing CAH.
Pigmentation (78%) was the most common symptom in
children with atypical CAH. The three groups of
children had different degrees of changes in the levels of
adrenocorticotrophic hormone,
cortisol,
testosterone, and
estradiol. Such changes were most pronounced in
children with
salt-losing CAH and were often accompanied by
hyponatremia,
hyperkalemia, and
metabolic acidosis.
After treatment with
hydrocortisone and/or 9-alpha fluorohydrocortisone, cortical
hormone levels improved in all the
children, and the levels of
cortisol,
testosterone,
estradiol, and
electrolytes improved significantly
after treatment in
children with
salt-losing CAH (P<0.05). In 22
patients who were followed up, 9 were re-hospitalized due to
infection, and 8 developed
sexual precocity.</p><p><b>CONCLUSIONS</b>Different types of CAH have different clinical symptoms. It is important that
hormone replacement should be initiated as early as possible to improve
prognosis.</p>