Neonatal-onset hereditary coproporphyria with male pseudohermaphrodism

The appearance of hereditary coproporphyria (HCP) before puberty is very ra re, and all reported cases of early-onset HCP have been in the homozygous o r the compound heterozygous state. Some have been identified as harderoporp hyria, which is a rare erythropoietic variant form of HCP. These conditions can be differentiated by molecular analysis because the gene abnormality r esponsible for harderoporphyria seems to be unique (K404E). Early-onset HCP , not harderoporphyria, is reported with a gene mutation in the heterozygou s state and male pseudohermaphrodism. It was shown that adrenal gland hypof unction resulted in male pseudohermaphrodism. This case demonstrates the po ssibility that abnormalities of steroid metabolism influence porphyria. (C) 2001 by The American Society of Hematology.