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自1984～1989年,我们收治先天性肾上腺皮质增生症9例,其中男2例,女7例;年龄为45天～10岁。男性患儿自幼大阴茎,阴茎1～2岁时较同龄儿者粗大,口周长有胡须;女性患儿肤色较黑,声音低沉,有喉结、阴蒂肥大等女性假两性畸形表现。本病于儿时易误诊、漏诊,因此我们认为:①对外生殖器发育不良或疑为两性畸形者,首先应检查口腔粘膜细胞核的染色质或(和)染色体,以区别性别。②对自幼男性大阴茎及女性假两性畸形者、测尿孕三醇或尿17-ks;21-羟化酶缺乏者,此两项值
From 1984 to 1989, we treated 9 cases of congenital adrenal hyperplasia, including 2 males and 7 females; aged 45 days to 10 years. Male children with large penis since childhood, the penis 1 to 2 years older than their peers were coarse, mouth circumference bearded; female children with darker skin, low voice, with Adam’s apple, clitoral hypertrophy and other female bisexual deformities. The disease is easily misdiagnosed in childhood, missed diagnosis, so we think: ① external genital dysplasia or suspected amphiprotic, we should first check the oral mucosa nuclear chromatin or (and) chromosome to distinguish gender. ② male penile and female pseudohermaphroditism, urinary pregnancy triol or urine 17-ks; 21-hydroxylase deficiency, the two values