Caudal dysplasia sequence with penile enlargement: Case report and a potential pathogenic hypothesis

The clinical spectrum of caudal dysplasia sequence (CDS) is noted for its d iversity. The origin of CDS remains unknown, though poorly controlled gesta tional diabetes has been implicated in some cases. Here we describe the cas e of a newborn with CDS associated with penile enlargement (PE), The main a nomalies included anal atresia, agenesis of the kidneys and of the sacrococ cygeal vertebrae, dysgenesis of lumbar vertebrae, and bilateral cryptorchid ism, Penile enlargement (7 cm), a rather unusual finding, has so far not be en reported in association with CDS, Chromosomal analysis failed, and the n eonate died 30 min after birth, Comparative genomic hybridization analysis using stored DNA showed a balanced normal male DNA content, which negates c hromosomal losses or gains as a cause of CDS and/or PE, PE due to virilizin g-type adrenal hyperplasia, caused by common mutations in the genes encodin g for the adrenal enzymes 21-hydroxylase and Il-hydroxylase, was ruled out. We report on a previously unpublished case of the coexistence of PE and se vere CDS and propose a possible pathogenetic hypothesis of this association , (C) 2001 Wiley-Liss, Inc.