OBJECTIVETo gain more insight into congenital adrenal hyperplasia (CAH) by analyzing the clinical data of children with 21-hydroxylase-deficient CAH.

METHODSThe 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.

RESULTSThe male-to-female ratio of the 52 cases was 1.6:1; 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.

CONCLUSIONSDifferent types of CAH have different clinical symptoms. It is important that hormone replacement should be initiated as early as possible to improve prognosis.