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Dergiler / Journal of Clinical Research in Pediatric Endocrinology / 2017 / Cilt: 9 - Sayı: 3

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

BAYRAM ÖZHAN
Özlem ANLAŞ BOZ
Bilge SARIKEPE
BURCU ALBUZ
Nur GÜNDÜZ SEMERCİ
Sayfa
278–282
DOI
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⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

Both patients were homozygous and the parents were heterozygous.

📌 3 Maddede Bu Makale

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Amaç & Hipotez:Congenital central hypothyroidism (CCH) is a very rare disease.
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Temel Bulgular & Veri:Alterations in pituitary development genes as well as mutations of immunoglobulin superfamily member 1 and transducin ?-like protein 1 can result in CCH and multiple pituitary hormone deficiencies.
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Sonuç & Katkı:Both patients were homozygous and the parents were heterozygous.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

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 ?-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.

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Bu Makaleye Atıf Yap

ÖZHAN, B., BOZ, Ö. A., SARIKEPE, B., ALBUZ, B., SEMERCİ, N. G. (2017). Congenital Central Hypothyroidism Caused by a Novel Thyroid- Stimulating Hormone-Beta Subunit Gene Mutation in Two Siblings. Journal of Clinical Research in Pediatric Endocrinology, Cilt: 9 - Sayı: 3, 278–282. https://ajindex.com/articles/207894

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Kaynakça (11)

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