Format

Send to

Choose Destination
J Pediatr Endocrinol Metab. 2013;26(5-6):565-7. doi: 10.1515/jpem-2012-0242.

A novel mutation in thyrotropin (thyroid-stimulating hormone) gene in congenital hypothyroidism.

Author information

1
Department of Pediatrics, Lady Hardinge Medical College and associated Kalawati Saran Children's Hospital, New Delhi, India.

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.

PMID:
23412856
DOI:
10.1515/jpem-2012-0242
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for iFactory
Loading ...
Support Center