Congenital Central Hypothyroidism Caused by a Novel Thyroid-Stimulating Hormone-Beta Subunit Gene Mutation in Two Siblings.

Abstract

Congenital central hypothyroidism (CCH) is a very rare disease. Alterations in pituitary development genes as well as mutations of immunoglobulin superfamily member 1 and transducin β-like protein 1 can result in CCH and multiple pituitary hormone deficiencies. However, mutations of the thyrotropin-releasing hormone receptor or thyroid-stimulating hormone-beta (TSHB) gene are responsible for isolated CCH. In this paper, we present the cases of two siblings with a novel mutation of TSHB. Direct sequencing of the coding regions and exon/intron boundaries of the TSHB gene revealed two homozygous nucleotides changes. One of them was c.40A>G (rs10776792) which is a very common variation that is also seen in healthy individuals, the other was c.94G>A at codon 32 of exon 2 which resulted in a change from glutamic acid to lysine (p.E32K). Both patients were homozygous and the parents were heterozygous.

• Authors: Bayram Özhan, Özlem Boz Anlaş, Bilge Sarıkepe, Burcu Albuz, Nur Semerci Gündüz
• Journal: Journal of clinical research in pediatric endocrinology (J Clin Res Pediatr Endocrinol) Vol. 9 Issue 3 Pg. 278-282 (Sep 01 2017) ISSN: 1308-5735 [Electronic] Turkey
• PMID: 28515030 (Publication Type: Case Reports, Journal Article)

Chemical References

• Thyrotropin, beta Subunit

Topics

• Adolescent
• Congenital Hypothyroidism (genetics)
• Female
• Humans
• Male
• Mutation
• Siblings
• Thyrotropin, beta Subunit (genetics)
• Turkey
• Young Adult