Abstract.We examined clinical, endocrinological and molecular biological aspects of an estrogen-secreting adrenal carcinoma in an 18-month-old male to clarify the pathogenesis of this condition.An 18-month-old boy was referred for evaluation of progressive bilateral gynecomastia and appearance of pubic hair. The patient had elevated plasma estradiol (349 pg/ml) and testosterone (260 ng/dl) levels that completely suppressed FSH and LH levels, and was subsequently diagnosed with an adrenal tumor on the right side. After removal of a 300-g adenocarcinoma, gynecomastia regressed and essentially normal hormone levels were restored.Aromatase activity in the tumor tissue determined by the 3H-water method was 71.0-104.4 pmol/min/mg protein.High levels of aromatase protein and mRNA in the tumor tissue were also demonstrated, while neither aromatase activity nor protein was detected in normal adrenal glands. To investigate the regulation of aromatase expression in the adrenal carcinoma, we examined the usage of alternate promoters responsible for aromatase gene transcription.In the present case, the amounts of aromatase mRNA utilizing gonadal types of exon lc (I.3) and id (II) were significantly higher than those that using other exon is. This result suggested that the utilization of a gonadal-type exon 1 might be involved in the overproduction of aromatase in estrogen-secreting adrenal carcinoma.
Abstract.Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) is a genetic disorder characterized by unregulated insulin secretion and profound hypoglycemia.Recently, mutations of SUR1 and Kir6.2, which constitute the pancreatic n-cell ATP-sensitive potassium (KATP) channel, have been shown to be associated with familial PHHI in certain ethnic groups. In the present study, we examined clinical symptoms, therapy, and variations in the SUR1 and Kir6.2 genes in eight Japanese patients with PHHI.Four patients were being treated with pharmacological agents and the other four had required pancreatectomy to normalize glucose levels. There was no difference in timing of the onset of hypoglycemia between the groups. There also was no difference in severity between the two groups, as assessed by blood glucose levels, plasma insulin levels, and birth weight. However, all of the pancreatectomized patients and none of the medically treated group had presented with seizures. By genetic screening, we found eleven nucleotide substitutions in the SUR1 gene, three of which result in amino acid changes, and three nucleotide substitutions in the Kir6.2 gene, two of which result in amino acid changes, but all of these genetic variants had been previously reported in normal subjects. These results indicate that the mechanism of hypoglycemia in these patients is different from those previously reported in PHHI patients, giving further support to the view that PHHI is a heterogeneous disorder.
Abstract.We evaluated the developmental prognosis of 31 infants born to mothers with autoimmune thyroiditis. Four of the babies developed transient neonatal hypothyroidism.Their mothers all had low thyroid hormone concentrations during pregnancy. Neonatal thyroid function tended to correlate with maternal thyroid function at delivery in babies born to mothers with Graves'disease who were taking antithyroid drugs.Since severe fetal hypothyroidism sometimes results in neurological damage, it is important to maintain normal maternal thyroid function during pregnancy.
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