Chromosomes, genes, and the thyroid gland

Abstract

Editorial Perspective: As molecular genetics advances at breakneck speed, unraveling genetic mysteries via genom-ics, proteomics, and microarray analysis, we are at the cusp of the era of personalized medicine, by which knowledge of our unique genetic blueprint will allow us to anticipate, and hopefully obviate, a host of heritable diseases. The genetic aspects of thyroid diseases are manifest in all age groups, from the neonate with congenital hypothyroidism due to a newly defined mutation in thyroid hor-monogenesis, to the adult who is genetically predisposed to autoimmune thyroid disease because of aberrations of autoregulatory genes. The recognition of thyroid disease is of paramount importance, especially in the neonatal period. A failure to diagnose these diseases will have a profoundly adverse effect on the growth and development of the child. It is essential that practitioners are cognizant of how common thyroid diseases are in patients with certain genetic syndromes. Addressing these issues is essential for proper care. I recall seeing a patient with Down syndrome who was frequently treated for repeated bouts of secondarily infected num-mular eczema. Recognizing that approximately one-third of patients with Down syndrome have thyroid disorders, a thyroid-stimulating hormone (TSH) level was checked. The patient was found to be hypothyroid; once she was placed on thyroid hormone, the xerotic skin that predisposed her to developing eczema resolved, and secondary infection was no longer an issue. This chapter offers current insights into the pathogenesis and derma-tologic features of a host of chromosomal, mosaic, and inborn errors of metabolism that also affect the thyroid gland. When confronted with syndromal patients, thoughtful clinicians will entertain the possibility that there may be coexistent thyroid gland disorders and will research this by utilizing resources such as OMIM (the Online Mendelian Inheritance of Man database). It is a worthwhile endeavor to do so as maintaining a euthyroid state is crucial for optimal health. © 2008 Springer-Verlag London.