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11β—羟化酶缺陷症是先天性肾上腺皮质增殖(CAH)的一种罕见类型。在国内报告的30例中,大多数为21羟化酶缺陷引起的单纯型,属本型者不过两例,均未加详述。现将我们所见一例报告如下,并结合文献加以讨论。病例:李××、女、1岁2个月、住院号131085。因三周来咳喘、低烧、对周围反应迟钝入院。患儿系第四胎、顺产、出生体重3kg。母奶喂养,平日健康,家属未发现其生殖器畸形。母妊四次,三兄健在。其母妊期及哺乳期无放射线接触及特殊药物史。
11β-hydroxylase deficiency is a rare type of congenital adrenocortical proliferation (CAH). In the 30 cases reported in the country, most of them are caused by 21 hydroxylase deficiency simple type, but this type are two cases, are not described in detail. Here is an example of what we have seen below, which is discussed in the literature. Case: Lee × ×, female, 1 year old 2 months, hospital number 131085. Due to cough and asthma for three weeks, low-grade fever, the reaction to the surrounding dull admission. Children in the fourth child, normal delivery, birth weight 3kg. Breastfeeding, weekdays healthy, family members did not find their genital deformity. Mother and pregnant four times, three brothers alive. The mother’s pregnancy and lactation without radiation exposure and special drug history.