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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Veröffentlicht in:	Indian journal of pediatrics 2010, Vol.77 (1), p.94-96
Hauptverfasser:	Muthukrishnan, Jayaraman, Harikumar, K. V. S., Verma, Abhyuday, Modi, Kirtikumar
Format:	Artikel
Sprache:	eng
Schlagworte:	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
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Zusammenfassung:	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.
ISSN:	0019-5456 0973-7693
DOI:	10.1007/s12098-009-0248-1