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https://hdl.handle.net/11499/8931
Title: | Congenital central hypothyroidism caused by a novel thyroid-stimulating hormone-beta subunit gene mutation in two siblings | Authors: | Özhan, Bayram Anlaş, Ö.B. Sarıkepe, B. Albuz, B. Gündüz, Nur Semerci |
Keywords: | Congenital Hypothyroidism Thyrotropin deficiency alanine aminotransferase aspartate aminotransferase cholesterol corticotropin creatinine cyanocobalamin follitropin glutamic acid hemoglobin iron luteinizing hormone lysine prolactin somatomedin C testosterone thyrotropin beta subunit thyroxine triacylglycerol abdominal distension adolescent adult anemia Article bradycardia case report clinical article congenital hypothyroidism drug dose increase drug dose titration dry skin echocardiography epiphysis injury exon female free thyroxine index gene gene mutation genetic analysis hair growth human hypotension hypothalamus hypophysis adrenal system kyphoscoliosis low drug dose male myxedema nuclear magnetic resonance imaging polymerase chain reaction psychomotor disorder scoring system tachycardia thyrotropin blood level TSHB gene umbilical hernia young adult genetics mutation sibling Adolescent Congenital Hypothyroidism Female Humans Male Mutation Siblings Thyrotropin, beta Subunit Turkey Young Adult |
Publisher: | Galenos Yayincilik, | 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 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. © 2017 by Turkish Pediatric Endocrinology and Diabetes Society. | URI: | https://hdl.handle.net/11499/8931 https://doi.org/10.4274/jcrpe.4595 |
ISSN: | 1308-5727 |
Appears in Collections: | PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection Tıp Fakültesi Koleksiyonu TR Dizin İndeksli Yayınlar Koleksiyonu / TR Dizin Indexed Publications Collection WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection |
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