title: A novel mutation in thyrotropin (thyroid-stimulating hormone) gene in congenital hypothyroidism.
abstract: A 3-year-old girl had global developmental delay with dysmorphic facies. In addition, she was found to have congenital hypothyroidism. In view of the associated dysmorphism, a karyotype analysis was done. It revealed a novel translocation mutation, 46XX t(1;14) (p22;q32). The association of this mutation with congenital hypothyroidism has been postulated in our case report. To the best of our knowledge, this mutation has never been described before in cases of congenital hypothyroidism.
authors: Department of Pediatrics, Lady Hardinge Medical College and associated Kalawati Saran Children's Hospital, New Delhi, India.
authors: Nilay
authors: N
authors: Nirupam
authors: Anu
authors: A
authors: Maheshwari
authors: Shelly
authors: S
authors: Gupta
authors: Satinder
authors: S
authors: Aneja
authors: Anju
authors: A
authors: Seth
mesh_terms: D058489:46, XX Disorders of Sex Development / Q000235:genetics*; D002675:Child, Preschool; D003409:Congenital Hypothyroidism / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D006801:Humans; D011877:Radionuclide Imaging; D013972:Thyrotropin / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D013972:Thyrotropin