Mutations in Thyroid Hormone Receptor-beta Associated with Patients with Generalized Resistance and Pituitary Resistance to Thyroid Hormone / 대한내분비학회지

We report a point mutation in the TRbeta gene in korean patients with generalized resistance and pituitary resistance to thyroid hormone. One mutation at TRbeta (P453S) were detected in patient with pituitary resistance to thyroid, which showed different phenotype, generalized resistance to thyroid hormone, in her mothers. But, the other (C31Y), did not show clear relations with the disease. Therefore, further study of molecular and cellular basis will be warranted to explain the clear mechanism of the resistance to thyroid hormone.

A Case of Porphyria with Acute Pancreatitis / 대한내분비학회지

The porphyrias are a group of disorders caused by deficiency in the enzymes of the heme biosynthetic pathway. Patients with porphyria may develop neurovisceral attacks which include severe abdominal pain, neuropsychiatric manifestations and potentially fatal respiratory paralysis. However, these patients may also have abdominal pain not due to porphyria itself, and in such case, careful evaluation is important. We report a case of acute pancreatitis with masquerading acute attack of porphyria, which made us difficult to make a correct diagnosis. A 29-year-old female, previously diagnosed to have hepatic porphyria, presented with acute abdominal pain, back pain and leg pain for 3 days. Serum amylase was normal and 24-hour urine -ALA and PBG showed increased levels. After intravenous infusion of glucose, symptoms were improved. From the 10th day of admission, she complained severe abdominal pain, and was found to have severe metabolic acidosis, shock, and signs of peritonitis on the 12th day of admission. Emergency exploration revealed edematous pancreas. Amylase and lipase levels in serum and ascites were found to be markedly elevated. After conservative management, her general condition gradually improved and serum amylase and lipase levels were normalized.