21-羟化酶缺乏先天性肾上腺皮质增生症52例临床分析

目的 通过对21- 羟化酶缺乏先天性肾上腺皮质增生症(CAH)患儿的临床资料进行分析, 提高对CAH 的认识。方法 收集52 例被诊断为21- 羟化酶缺乏CAH 患儿的临床资料, 根据病情轻重、是否伴随失盐型表现分为单纯男性化型(n=15)、失盐型(n=28)和非典型型(n=9), 对不同类型CAH 患儿的临床资料进行比较分析。结果 52 例患儿中, 男女比1.6:1;起病年龄<1 个月41 例;有相关家族史4 例。单纯男性化型中最常见临床表现为阴蒂肥大(87%);失盐型患儿中最常见临床表现为色素沉着(89%)、喂养困难和(或)体重增长缓慢(61%);非典型型患儿中最常见临床表现为色素沉着(78%)。3 种类型患儿均有不同程度促肾上腺皮质激素、皮质醇、睾酮和雌二醇水平改变, 以失盐型为剧, 还常伴有高钾、低钠及代谢性酸中毒。经氢化可的松和(或)9-α 氟氢可的松等治疗后, 不同类型CAH 患儿皮质激素水平获得好转, 其中失盐型患儿皮质醇、睾酮、雌二醇、电解质水平较治疗前明显好转(P<0.05)。随访22 例, 9 例感染后病重再次住院, 8 例患儿有性早熟表现。结论 不同类型CAH 患儿临床症状有所差异, 尽早激素替代治疗对于改善患儿预后具有重要意义。

Clinical analysis of 52 cases of 21-hydroxylase-deficient congenital adrenal hyperplasia

Objective To gain more insight into congenital adrenal hyperplasia (CAH) by analyzing the clinical data of children with 21-hydroxylase-deficient CAH. Methods The clinical data of 52 children with 21-hydroxylasedeficient 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. Results The 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 rehospitalized due to infection, and 8 developed sexual precocity. Conclusions Different types of CAH have different clinical symptoms. It is important that hormone replacement should be initiated as early as possible to improve prognosis.