The mutation of the thyroid peroxidase (TPO) gene that causes the total iodide organification defect (TIOD) is a common and severe condition leading to dyshormonogenesis of the thyroid gland in Caucasians. However, the role of TIOD in Chinese patients with thyroid dyshormonogenesis is unknown. In this study we followed 16 patients from 16 unrelated families in Taiwan and performed perchlorate discharge examination. Seven patients had TIOD and 2 had the partial iodine organification defect (PIOD) among the 16 families. These 9 patients underwent screening in search of TPO gene mutations. Three new mutations (2268 insT, 2243 delT, and G157C) were detected in the 7 patients with TIOD, whereas no mutation in the TPO gene was found in the 2 patients with PIOD. The 2268 insT mutation was noted to be the most common among these TIOD patients (12 of 14 studied alleles, 86%). With 3 intragenic polymorphic markers, we found that the alleles carrying the 2268 insT mutation in Taiwan Chinese TIOD patients were tightly linked to a specific haplotype. The allele frequencies of this haplotype in the 8 patients with homozygous 2268 insT (5 unrelated families, 10 studied alleles) and in 49 normal individuals (98 studied alleles) were 1.00 and 0.02, respectively (P < 0.0001). This indicates that this common novel mutation among Taiwanese patients with TIOD is due to a founder effect.

SummaryFor the purpose of exploring the possibility of implementing a nation-wide screening program for inherited metabolic diseases and congenital hypothyroidism in Chinese newborn infants, a pilot study was initiated in 1983 to detect patients with phenylketonuria (PKU), galactosemia, homocystinuria, maple syrup urine disease and congenital hypothyroidism (CHT) in mildly mentally retarded (mostly IQ 50-75) school children in Taiwan. Of 4,744 blood samples collected on filter paper from 246 primary and junior high schools all over the island, preliminary screening disclosed six suspected positive cases of PKU and nine of CHT. Two cases of classical PKU, one case of atypical PKU caused by tetrahydrobiopterin deficiency, and seven cases of CHT (one hypoplastic, two athyroid, three ectopic and one dyshormonogenesis) were finally confirmed. In addition to the seven cases of CHT, one more case found by questionnaire survey. This case was missed from the screening because he was recognized as CHT previously and was on thyroxine replacement therapy during screening. The incidence is I/1,581 for PKU and 1/593 for CHT in these children.

Zollinger-Ellison syndrome is a complex condition in which one or more tumors form in the patient's pancreas or upper duodenum. These tumors, called gastrinomas, secrete excessive amounts of gastrin, and almost all develop ulcers. The vast majority of gastrinomas are present within the “gastrinoma triangle,” which is composed of the porta hepatis, duodenal sweep, and pancreatic head. As surgery remains the treatment of choice, localization of the primary lesion is often challenging but essential. We present a 50-year-old man with a tentative diagnosis of Zollinger-Ellison syndrome. His In-111 pentetreotide scan, fused onto a Tc-99m abdomen image, revealed an avid lesion adjacent to the duodenal loop. Operative resection was performed, and a primary pancreatic gastrinoma was diagnosed by immunohistochemical staining. The neuroendocrine tumors have somatostatin receptors upon them. Therefore, a penteteotide scan, using In-111 radiolabelled somatostatin analogues, is the current technique of choice. This dual-isotope display permits a visual perception of anatomic landmarks around the lesion.

The results of our study indicated that low RBC volume may play an important role in the pathophysiology of OI in this group of patients. Moreover, its role seems even more relevant in patients with POTS than in those without. Further studies for mechanistic evaluation are needed in the future.

Metastatic colon cancers to the oral cavity are unusual, involving a majority of the mandible rather than the oral soft tissues. We describe a rare site of gingival metastasis in a case of rectosigmoid cancer. The patient was a 74-year-old woman who developed swelling and persistent bleeding of the right mandibular gingiva after tooth extraction. A PET/CT using 18F-FDG depicted multiple metastatic lesions in the neck, lung, abdominal wall, and mandibular gingiva. Histologic study of the gingival lesion confirmed the diagnosis of gingival metastasis from colon adenocarcinoma.