Neonatal-onset hereditary coproporphyria with male pseudohermaphrodism.
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.
Takeuchi
H
H
Department of Pediatrics, Nagoya Daini Red Cross Hospital, Japan. takeuchi@freesurf.ch
Kondo
M
M
Daimon
M
M
Susa
S
S
Ueoka
K
K
Uemura
O
O
Togari
H
H
D000309:Adrenal Insufficiency / Q000150:complications / Q000175:diagnosis; D000324:Adrenocorticotropic Hormone / Q000097:blood; D001483:Base Sequence; D006063:Chorionic Gonadotropin; D003306:Coproporphyrins / Q000032:analysis; D004247:DNA / Q000737:chemistry; D019003:Deoxyribonuclease HpaII / Q000378:metabolism; D012734:Disorders of Sex Development / Q000150:complications*; D005091:Exons; D005243:Feces / Q000737:chemistry; D006579:Heterozygote; D006801:Humans; D006854:Hydrocortisone / Q000097:blood; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D017094:Porphyrias, Hepatic / Q000150:complications / Q000235:genetics*; D017422:Sequence Analysis, DNA; D013739:Testosterone / Q000097:blood
D006063:Chorionic Gonadotropin; D003306:Coproporphyrins; C026971:coproporphyrin III; D013739:Testosterone; D000324:Adrenocorticotropic Hormone; D004247:DNA; D019003:Deoxyribonuclease HpaII; D006854:Hydrocortisone