We report a rare case of hypogenesis of the right lobe of the liver with portal hypertension and a review of 31 cases of agenesis or hypogenesis of the right hepatic lobe reported in Japan. A 74-year-old man consulted our hospital for further examination after a mass screening for gastric cancer. On physical examination liver enlargement was palpable, but liver function tests were normal. Abdominal ultrasonography, computed tomography, technetium-99m liver scintigraphy, and endoscopic retrograde cholangiopancreatography revealed a small right hepatic lobe and moderate splenomegaly, in contrast to a hypertrophic lateral segment of the left hepatic lobe, as well as ectopic dislocation of the gallbladder. Endoscopic examination revealed esophageal varices, indicating portal hypertension. Abdominal angiography demonstrated mild shunt flow between the hepatic artery feeding from the gastroduodenal artery and the portal vein. A biopsy specimen taken from both lobes of the liver showed normal liver tissue histologically. Based on these findings, we made a definite diagnosis of hypogenesis of the right lobe of the liver with portal hypertension. The present case appears to be the first such case accompanied by portal hypertension reported in Japan.

Wereport an autopsy case of Cockaynesyndrome(CS). A40-year-old Japanese womanwas admitted to our hospital for cachexia. She had displayed the striking features of CS, including dwarfism, mental retardation, neural deafness, ataxia, intracranial calcifications, and progeria since her childhood. Endocrinological examinations suggested normal pituitary function and a disorder of the hypothalamus or the cerebrum. She died of acute pneumonia at the age of 42. Autopsy findings showed typical abnormalities in the central nervous system compatible with CS; however, no atherosclerotic change was observed in the systemic arteries.

We describe a family with Liddle's disease caused by a novel mutation of the b subunit of the human epithelial sodium channel (ENaC). A 15-year-old Japanese female was referred to our outclinic because of hypertension. The physical examination showed no abnormal findings except mild hypertension, but the laboratory data revealed low levels of plasma renin activity, plasma aldosterone and serum potassium. A comprehensive analysis of steroid hormones showed only high levels of urinary free cortisol and 17-hydroxycorticosteroids. During loading tests, blood pressure and serum potassium responded well to triamterene and slightly to spironolactone, but did not respond to dexamethasone. In addition, the normal ratio of tetrahydrocortisol plus 5a-tetrahydrocortisol to tetrahydrocortisone in a 24 h urinary excretion test strongly suggested a diagnosis of Liddle's disease rather than apparent mineralocorticoid excess syndrome. DNA sequence analysis of members of this family revealed a single cytosine base insertion at Arg-597 of the b human ENaC in the proband and her mother, leading to a loss of the last 34 amino acids from the normally encoded protein as the result of a frameshift. We conclude that a de novo cytosine insertion into the final exon of the C-terminus of the b human ENaC is responsible for Liddle's disease in this Japanese family.

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Abstract.The effects of thyroidectomy on patterns of TRH and somatotropin release-inhibiting factor (SRIF) release from the hypothalamus were investigated by using a microdialysis technique. Thyroidectomized and sham-operated rats underwent placement of a guide cannula into the anterior pituitary gland to obtain dialysates, or implantation of an intravenous cannula into the right atrium for blood sampling.Seven days postoperatively dialysates were collected at a flow rate of 2 p1/min every 1 h. TRH concentrations in dialysates from thyroidectomized rats (0.43 ± 0.22 pg/h) were significantly higher than those from control rats (0.17 ± 0.02 pg/h).In contrast, SRIF concentrations in dialysates from thyroidectomized rats (2.45 ± 0.05 pg/h) were significantly lower than those from control rats (3.80 ± 0.22 pg/h).In addition, plasma TSH concentrations in thyroidectomized rats (24.8 ± 0.5 ng/ml) were increased compared with those in control rats (2.5 ± 0.1 ng/ml), and plasma GH concentrations were decreased from 68.6 ± 6.4 ng/ml in control rats to 21.2 ± 0.6 ng/ml in thyroidectomized rats. These findings indicate that TRH and SRIF releases from the hypothalamus are detectable by microdialysis method, and directly show the increase in TRH secretion and the decrease in SRIF secretion from hypothalamus in the hypothyroid state.

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