Please use this identifier to cite or link to this item: 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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