Genetic-Metabolic Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
Indian J Pediatr. 2009 Sep;76(9):956-8. doi: 10.1007/s12098-009-0193-z. Epub 2009 Nov 4.
The management of disorders of sexual differentiation (DSD) involves a multidisciplinary approach. The main aim of analysis was to study the phenotype-karyotype correlation in North Indian children with DSD. The records of pediatric DSD were retrieved and characteristics noted. Of total of 58 children, 43 (74.1%) and 10 (17.2%) were raised as males and females respectively. The mean age at presentation was 31.3+/-9 months. The karyotype was 46XY in 45 (77.6%) and 46XX in 12 (20.7%). CAH was commonest cause of DSD (36.2%), followed by gonadal dysgenesis. Of the 15 patients of 46 XY CAH, there were 5 with 17-alpha hydroxylase deficiency, 2 with 3-beta HSD deficiency and one case of lipoid adrenal hyperplasia. There was an excess of genetic males, possibly due to prevalent socio-cultural factors and gender bias favoring males. There is a need to improve the diagnostic facilities and incorporate a team approach in management of DSD.
性分化障碍（DSD）的管理涉及多学科方法。分析的主要目的是研究北印度 DSD 儿童的表型-核型相关性。检索了儿科 DSD 的记录并注意到了特征。在总共 58 名儿童中，分别有 43 名（74.1%）和 10 名（17.2%）被作为男性和女性抚养。就诊时的平均年龄为 31.3+/-9 个月。45 名（77.6%）患儿的核型为 46XY，12 名（20.7%）患儿的核型为 46XX。CAH 是 DSD 最常见的原因（36.2%），其次是性腺发育不良。在 15 名 46 XY CAH 患者中，有 5 名患有 17-α羟化酶缺乏症，2 名患有 3-βHSD 缺乏症，1 名患有脂质性肾上腺增生症。可能由于普遍存在的社会文化因素和偏向男性的性别偏见，男性遗传患者过多。需要改善诊断设施，并在 DSD 的管理中采用团队方法。
