New congenital hypothyroidism study results from University of Erlangen described
2007 SEP 18 -- "Due to increased awareness of early clinical signs and introduction of neonatal screening for congenital hypothyroidism, long-term untreated hypothyroidism has become rare. Nevertheless, neonatal screening for congenital hypothyroidism is not performed. in all countries, and not every affected patient might be picked up by neonatal screening alone," scientists in Erlangen, Germany report. "Here we describe a case of congenital hypothyroidism due to an ectopic thyroid that was not diagnosed for 13 years and resulted in severe skeletal changes beside mental disablement. The patient showed coarse facial features (hypertelorism, broad flat nasal bridge, broad face) and a severe truncal shortening due to kyphoscoliosis of the spine. X-rays detected highly retarded bone age, a widely opened anterior fontanelle, immature, flat bodies of the vertebra with ventral beaked deformities mainly in the lumbar region and no ossification centres in the head of the femurs," wrote U. Huffmeier and colleagues, University of Erlangen. The researchers concluded: "In this patient we found no evidence for a mutation of the PAX8 gene known to cause an ectopic and/ or hypoplastic thyroid." Huffmeier and colleagues published their study in European Journal of Medical Genetics (Severe skeletal dysplasia caused by undiagnosed hypothyroidism. European Journal of Medical Genetics, 2007;50(3):209-215). For more information, contact U. Huffmeier, University of Erlangen Nurnberg, University of Hospital erlangen, Institute Human Genetics, Schwabachanlage 10, D-91054 Erlangen, Germany. Publisher contact information for the European Journal of Medical Genetics is: Elsevier Science BV, PO Box 211, 1000 AE Amsterdam, Netherlands. Keywords: Germany, Erlangen, Congenital Hypothyroidism, Dermatology, Endocrinology, Genetics, Skeletal Dysplasia, University of Erlangen. This article was prepared by Life Science Weekly editors from staff and other reports. Copyright 2007, Life Science Weekly via NewsRx.com.
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