... diagnosed at birth [thyroid-stimulating hormone (TSH) level 59-442 mU/l] and 7 at 2-48 years of age (TSH level 6-223 mU/l). One affected patient had thyroid hemiagenesis on ultrasound. Results: Direct sequencing of the PAX8 gene revealed a novel single nucleotide substitution (c.162 A>T) in exon 2...

... and was found to have congenital hypothyroidism due to thyroid hemiagenesis after birth. Moreover, the baby had bilateral hearing impairment, bilateral cryptorchidism, and a rotated penis. At the age of 2 years, the infant was euthyroid with levothyroxine replacement, but he showed significant developmental...

... and genetic susceptibility to thyroid dysgenesis causing congenital hypothyroidism. The objective of this study was a first assessment of the role of FOXE1 -polyAla expansion in the genetic background of thyroid hemiagenesis (TH). Methods: The group studied consisted of 40 patients with TH, including 6...

...Marina Baldini; Alessandra Orsatti; Luigi Cantalamessa We report the observation of an unusual case of Graves’ disease associated with thyroid hemiagenesis. A 41-year-old woman who presented with symptoms and clinical signs of hyperthyroidism was discovered to have thyroid hemiagenesia of the left...

...I-Te Lee; Wayne Huey-Herng Sheu; Shih-Yi Lin The subject is a 44-year-old female with thyroid hemiagenesis, who initially presented with hyperthyroidism. Thyroid peroxide antibody and thyroglobulin antibody levels were high. The scintiscan study and sonographic findings were compatible with thyroid...