Central hypothyroidism

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 wa...

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Bibliographic Details
Published inIndian journal of pediatrics Vol. 77; no. 1; pp. 94 - 96
Main Authors Muthukrishnan, Jayaraman, Harikumar, K. V. S., Verma, Abhyuday, Modi, Kirtikumar
Format Journal Article
LanguageEnglish
Published India Springer-Verlag 2010
Springer
Subjects
Biological and medical sciences
Brain - pathology
Clinical Brief
Endocrinopathies
General aspects
Gynecology
Humans
Hypothyroidism - genetics
Hypothyroidism - metabolism
Hypothyroidism - pathology
Infant
Magnetic Resonance Imaging
Male
Medical sciences
Medicine
Medicine & Public Health
Mutation, Missense - genetics
Non tumoral diseases. Target tissue resistance. Benign neoplasms
Pediatrics
Thyroid. Thyroid axis (diseases)
Thyrotropin, beta Subunit - genetics
Thyroxine - metabolism
Triiodothyronine - metabolism
Asia
India
TSHB gene mutation
Congenital hypothyroidism
India
Endocrinopathy
Pediatrics
Congenital
Thyroid diseases
Tropical medicine
Mutation
Hypothyroidism
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Summary: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.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
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ObjectType-Report-1
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ISSN:0019-5456
0973-7693
DOI:10.1007/s12098-009-0248-1