ISSN: 1308-5727 | E-ISSN: 1308-5735
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Turkish Society for Pediatric Endocrinology and Diabetes
Congenital Central Hypothyroidism Caused by a Novel Thyroid-Stimulating Hormone-Beta Subunit Gene Mutation in Two Siblings [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2017; 9(3): 278-282 | DOI: 10.4274/jcrpe.4595

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

Bayram Özhan1, Özlem Boz Anlaş2, Bilge Sarıkepe2, Burcu Albuz2, Nur Semerci Gündüz2
1Pamukkale University Faculty Of Medicine, Department Of Pediatrics, Division Of Pediatric Endocrinology, Denizli, Turkey
2Pamukkale University Faculty Of Medicine, Department Of Medical Genetics, Denizli, Turkey

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 ß-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.

Keywords: hypothyroidism,Congenital,thyrotropin deficiency

Bayram Özhan, Özlem Boz Anlaş, Bilge Sarıkepe, Burcu Albuz, Nur Semerci Gündüz. Congenital Central Hypothyroidism Caused by a Novel Thyroid-Stimulating Hormone-Beta Subunit Gene Mutation in Two Siblings. J Clin Res Pediatr Endocrinol. 2017; 9(3): 278-282
Manuscript Language: English
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