Gozzi Tiziana G, Harris Naomi P, McGown Ivan N, Cowley David M, Cotterill Andrew M, Campbell Peter E, Anderson P Kym, Warne Garry L
Centre for Hormone Research, Royal Children's Hospital, Melbourne, Parkville Victoria, Australia.
Pediatr Dev Pathol. 2005 May-Jun;8(3):397-401. doi: 10.1007/s10024-005-0004-0. Epub 2005 Jul 14.
A 5-month-old boy with no history of vomiting, early sexual development, or noticeable significant illness was found dead in bed. Autopsy demonstrated bilateral adrenal hyperplasia unequivocally shown on biochemical testing of blood and urine to be due to 21-hydroxylase deficiency. Genetic analysis of the CYP21 gene showed compound heterozygosity; 1 allele contained a pseudogene sequence (gene conversion) and the other contained a previously described I172N point mutation. On theoretical grounds, the genotype would have been expected to cause simple virilizing congenital adrenal hyperplasia but, because no other cause of death could be found, it is possible that it caused a fatally severe loss of enzyme activity in this child. If this assumption is valid, newborn screening would have prevented this death, had it been available.
一名5个月大的男婴，无呕吐史、性早熟或明显重大疾病史，被发现死在床上。尸检显示双侧肾上腺增生，血液和尿液生化检测明确显示这是由21-羟化酶缺乏所致。对CYP21基因的遗传分析显示为复合杂合子；一个等位基因包含假基因序列（基因转换），另一个包含先前描述的I172N点突变。从理论上讲，这种基因型预计会导致单纯男性化先天性肾上腺增生，但由于未发现其他死因，有可能是它导致了该患儿酶活性严重丧失并致命。如果这一假设成立，新生儿筛查若可行的话本可预防这一死亡。
