Bajpai Anurag, Kabra Madhulika, Menon P S N
Division of Pediatric Endocrinology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Indian Pediatr. 2004 Dec;41(12):1226-32.
We evaluated clinical features, laboratory profile and pointers to diagnosis of 21-hydroxylase deficiency in children presenting to the Pediatric Endocrine Clinic of our hospital from 1990 to 2002. Of the 94 patients included in the study 46 had salt wasting form (SW, 21 girls), 44 simple virilizing form (SV, 34 girls) and 4 non-classical form of the disease (NC, all girls). No difference was observed in the mean (95% confidence interval) age at diagnosis in boys and girls with salt wasting (2.3 mo (0.7-3.9 mo) against 1.3 mo (0.9-1.7 mo), p not significant) despite the presence of genital ambiguity in all girls at birth. Diagnosis of salt wasting was missed at admission in 18 boys (72%) and 3 girls (14.3%) highlighting the need for high index of suspicion for the disorder. Eight patients with 46 XX karyotype (14.5%) had male-like external genitalia with cryptorchidism emphasizing the need for evaluation of boys with cryptorchidism for female pseudohermaphroditism. Our study reiterates the need for early recognition and management of 21-hydroxylase deficiency in children in countries where neonatal screening programs are not feasible.
我们评估了1990年至2002年期间在我院儿科内分泌门诊就诊的儿童21-羟化酶缺乏症的临床特征、实验室检查结果及诊断依据。在纳入研究的94例患者中，46例为失盐型（SW，21例为女孩），44例为单纯男性化型（SV，34例为女孩），4例为非经典型（NC，均为女孩）。尽管所有女孩出生时均存在生殖器模糊，但失盐型男孩和女孩的诊断平均年龄（95%置信区间）无差异（分别为2.3个月（0.7 - 3.9个月）和1.3个月（0.9 - 1.7个月），p无统计学意义）。18例男孩（72%）和3例女孩（14.3%）在入院时漏诊失盐型，这突出了对该疾病高度怀疑的必要性。8例核型为46 XX的患者（14.5%）有类似男性的外生殖器并伴有隐睾，这强调了对患有隐睾的男孩进行女性假两性畸形评估的必要性。我们的研究重申，在无法开展新生儿筛查项目的国家，有必要对儿童21-羟化酶缺乏症进行早期识别和管理。
