Literature DB >> 19936667

Central hypothyroidism.

Jayaraman Muthukrishnan1, K V S Harikumar, Abhyuday Verma, Kirtikumar Modi.   

Abstract

A 15-mth-old male child of consanguineous parents, presented with classical features of congenital hypothyroidism. Serum total thyroxine (T4), total triiodothyronine (T3) and TSH were low. There was no evidence of deficiency of other pituitary hormones. Magnetic resonance imaging of the pituitary was normal. TSHB gene sequencing revealed a homozygous missense mutation due to single base substitution G?A at codon 85 resulting in change from Glycine to Arginine. This mutation in TSHB gene has been reported earlier in three cases with similar phenotype from Japan.

Entities:  

Mesh：

Substances：

Year:  2010        PMID： 19936667     DOI： 10.1007/s12098-009-0248-1

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  7 in total

1.  Congenital central hypothyroidism due to a homozygous mutation in the thyrotropin beta-subunit gene follows an autosomal recessive inheritance.

Authors:  B M Doeker; R W Pfäffle; J Pohlenz; W Andler
Journal:  J Clin Endocrinol Metab       Date:  1998-05       Impact factor: 5.958

Review 2.  HESX1: a novel gene implicated in a familial form of septo-optic dysplasia.

Authors:  M T Dattani; J P Martinez-Barbera; P Q Thomas; J M Brickman; R Gupta; J K Wales; P C Hindmarsh; R S Beddington; I C Robinson
Journal:  Acta Paediatr Suppl       Date:  1999-12

3.  Low TSH congenital hypothyroidism: identification of a novel mutation of the TSH beta-subunit gene in one sporadic case (C85R) and of mutation Q49stop in two siblings with congenital hypothyroidism.

Authors:  Amalia Sertedaki; Anastasios Papadimitriou; Antony Voutetakis; Maria Dracopoulou; Maria Maniati-Christidi; Catherine Dacou-Voutetakis
Journal:  Pediatr Res       Date:  2002-12       Impact factor: 3.756

4.  Detection of congenital hypopituitary hypothyroidism: ten-year experience in the Northwest Regional Screening Program.

Authors:  C E Hanna; P L Krainz; M R Skeels; R S Miyahira; D E Sesser; S H LaFranchi
Journal:  J Pediatr       Date:  1986-12       Impact factor: 4.406

5.  Role of the thyrotropin-releasing hormone stimulation test in diagnosis of congenital central hypothyroidism in infants.

Authors:  David A van Tijn; Jan J M de Vijlder; Thomas Vulsma
Journal:  J Clin Endocrinol Metab       Date:  2007-11-13       Impact factor: 5.958

6.  Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia.

Authors:  R W Pfäffle; G E DiMattia; J S Parks; M R Brown; J M Wit; M Jansen; H Van der Nat; J L Van den Brande; M G Rosenfeld; H A Ingraham
Journal:  Science       Date:  1992-08-21       Impact factor: 47.728

7.  Thyroid-stimulating hormone (TSH) deficiency caused by a single base substitution in the CAGYC region of the beta-subunit.

Authors:  Y Hayashizaki; Y Hiraoka; Y Endo; K Miyai; K Matsubara
Journal:  EMBO J       Date:  1989-08       Impact factor: 11.598
  7 in total
  1 in total

1.  IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management.

Authors:  S D Joustra; C A Heinen; N Schoenmakers; M Bonomi; B E P B Ballieux; M-O Turgeon; D J Bernard; E Fliers; A S P van Trotsenburg; M Losekoot; L Persani; J M Wit; N R Biermasz; A M Pereira; W Oostdijk
Journal:  J Clin Endocrinol Metab       Date:  2016-02-03       Impact factor: 5.958
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.