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At least 37 records · Page 2Linked to original sources
PubMed2001

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.

Adrenal Insufficiency↗
PubMed1989

Clinical application of SPECT in adrenal imaging with iodine-131 6 beta-iodomethyl-19-norcholesterol.

Forty-one patients with or without adrenocortical disorders were studied to evaluate the clinical usefulness of SPECT in adrenal imaging with I-131 Adosterol. In the SPECT images from this study, all glands with either normally functioning or hyperfunctioning adrenal cortices could be detected, while those glands with hypofunctioning adrenal cortices could not be detected. Particularly in transaxial and sagittal slices, the adrenal gland was identified posteriorly and was clearly distinguished from the gallbladder. In preliminary results using SPECT by a standard method, uptake in 68 detectable glands ranged from 1.7% to 4.9% in four glands with Cushing's syndrome, from 1.1% to 1.3% in seven glands with primary aldosteronism, and were distributed below 1.0% in the remaining glands with normally functioning adrenal cortices. These data show that it is possible to evaluate the adrenocortical functioning status simply by analyzing the SPECT images of the adrenal.

Adosterol↗