Blood, 15 December 2001, Vol. 98, No. 13, pp. 3871-3873
BRIEF REPORT
Neonatal-onset hereditary coproporphyria with male
pseudohermaphrodism
Harue Takeuchi,
Masao Kondo,
Makoto Daimon,
Shinji Susa,
Katsuhiko Ueoka,
Osamu Uemura, and
Hajime Togari
From Department of Pediatrics and the Department of
Pediatric Urology, Nagoya Daini Red Cross Hospital, Japan; the
Department of Nutrition and Biochemistry, National Institute of Public
Health, Tokyo, Japan; the Third Department of Internal Medicine,
Yamagata University School of Medicine, Japan; and the Department of
Pediatrics, Nagoya City University, Japan.
The appearance of hereditary coproporphyria (HCP) before puberty is
very rare, and all reported cases of early-onset HCP have been in the
homozygous or the compound heterozygous state. Some have been
identified as harderoporphyria, which is a rare erythropoietic variant form of HCP. These conditions can be differentiated by molecular analysis because the gene abnormality responsible for harderoporphyria seems to be unique (K404E). Early-onset HCP, not harderoporphyria, is reported with a gene mutation in the heterozygous state and male pseudohermaphrodism. It was shown that
adrenal gland hypofunction resulted in male pseudohermaphrodism. This
case demonstrates the possibility that abnormalities of steroid metabolism influence porphyria.
