Schreiner Felix, Brack Christoph, Salzgeber Kirsten, Vorhoff Walburga, Woelfle Joachim, Gohlke Bettina
Pediatric Endocrinology Division, Children's Hospital, University of Bonn, Adenauerallee 119, 53113, Bonn, Germany.
Eur J Pediatr. 2008 Apr;167(4):479-81. doi: 10.1007/s00431-007-0505-0. Epub 2007 May 22.
We report 5 out of 214 children with classical congenital adrenal hyperplasia (CAH) that was not detected by neonatal 17-Hydroxyprogesterone screening. Therefore, diagnosis was only based on a suspect clinical picture and subsequent re-evaluation. In addition to 3 patients suffering from the simple virilizing form of CAH and not reported so far, the remaining 2 children whose CAH was missed by the screening suffered from the severe salt-wasting form. This report underlines the importance of a careful clinical investigation of newborns to detect signs of genital virilization. The differential diagnosis of classical CAH should be kept in mind even if neonatal screening is reported to be normal.
我们报告了214例经典型先天性肾上腺皮质增生症（CAH）患儿中有5例未通过新生儿17-羟孕酮筛查被发现。因此，诊断仅基于可疑的临床表现及随后的重新评估。除了3例患有单纯男性化型CAH且此前未被报道的患者外，另外2例筛查漏诊的CAH患儿患有严重失盐型。本报告强调了对新生儿进行仔细临床检查以发现生殖器男性化体征的重要性。即使新生儿筛查报告正常，也应牢记经典型CAH的鉴别诊断。
