Congenital Hypothyroidism

Research from Y. Tenenbaum-Rakover and co-authors in the area of congenital hypothyroidism genetics published

Congenital Hypothyroidism Library Library Home This article was published in Proteomics Weekly, which you can subscribe to online.

"While TPO mutations have been identified in various populations, none have been reported in Israeli patients with IOD. The objectives of this study were to characterize the molecular basis of IOD in an Israeli Arab-Muslim population and to analyse the clinical, neurological and imaging data of patients with TPO mutations followed for up to 29 years. Twenty-two patients from six core families with congenital hypothyroidism (CH) and IOD living in the same region. AND All subjects underwent clinical, hormonal and imaging evaluation. The TPO gene was directly sequenced and the presence of specific mutations among family members was determined by restriction fragment length polymorphism (RFLP). All patients had congenital and persistent primary hypothyroidism. The thyroid gland was demonstrated in all subjects by technetium (99mTc) scans. A positive perchlorate discharge test (mean 87%) was indicative of IOD. Enlargement of the thyroid gland was shown in 64% of our patients, mostly with multinodular appearance, and in some with retrosternal invasion. Neurological complications were observed in 13 patients (59%). Four subjects, who carry two different TPO mutations, had sensorineural deafness. Two previously described TPO gene mutations [G1567A (G493S) and C1708T (R540X)] and one novel TPO gene mutation [C965T (S292F)] were identified. The two previously described mutations were present in 90% of the subjects. Haplotyping suggested a distant common ancestry for each of these two mutations. Three different TPO gene mutations were found to be responsible for IOD in a consanguineous Israeli population," wrote Y. Tenenbaum-Rakover and colleagues, .

The researchers concluded: "The high rate of development of multinodular glands (MNGs) in our cohort of patients indicates the need for long-term follow-up of patients with TPO gene mutations.'."

Tenenbaum-Rakover and colleagues published their study in Clinical Endocrinology (Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis. Clinical Endocrinology, 2007;66(5):695-702).

For additional information, contact Y. Tenenbaum-Rakover, Paediatric Endocrine Unit, Ha'Emek Medical Centre, Afula, Israel.

The publisher's contact information for the journal Clinical Endocrinology is: Blackwell Publishing Ltd., 9600 Garsington Rd., Oxford OX4 2DG, Oxon, England.

Keywords: Israel, Afula, Congenital Hypothyroidism Genetics, Clinical Endocrinology, Congenital Hypothyroidism, Endocrinology, Enzyme Research, Genetics, Peroxidase.

This article was prepared by Proteomics Weekly editors from staff and other reports. Copyright 2007, Proteomics Weekly via NewsRx.com.