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1.
Indian J Pediatr ; 2010 Jan; 77(1): 94-96
Article in English | IMSEAR | ID: sea-142480

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.


Subject(s)
Brain/pathology , Humans , Hypothyroidism/genetics , Hypothyroidism/metabolism , Hypothyroidism/pathology , Infant , Magnetic Resonance Imaging , Male , Mutation, Missense/genetics , Thyrotropin, beta Subunit/genetics , Thyroxine/metabolism , Triiodothyronine/metabolism
2.
Saudi Medical Journal. 2008; 29 (8): 1135-1138
in English | IMEMR | ID: emr-94308

ABSTRACT

To establish relationship between obesity and hypothyroidism and to analyze the frequency the frequency of primary hypothyroidism in obese patients and frequency of obesity in primary hypothyroidism patients. We conducted this retrospective, observational study in the Department of Endocrinology and Obesity Clinic, Medwin Hospital, Hyderabad, India in Mar 2008. In the last 18 months [between September 2006 to February 2008], data on 625 consecutive primary hypothyroidism patients [Group I] and 450 patients from obesity clinic [Group II] were analyzed. Frequency difference between the 2 groups was assessed by Chi-square test. In Group I, 278/625 [44%] had body mass index [BMI] >25 kg/m2. Obesity was higher [46% versus 34%] in overt hypothyroidism than in subclinical hypothyroidism [p=0.21]. More patients were overweight in overt hypothyroidism group than in subclinical hypothyroidism group [p=0.02]. In obesity patients, overt hypothyroidism was present in 33% and subclinical hypothyroidism in 11% patients. Overall thyroid dysfunction was found more in obese individuals with varying degree of significance. Detailed studies are required to assess the cause and effect relation between obesity and hypothyroidism


Subject(s)
Humans , Male , Female , Obesity/complications , Obesity/etiology , Retrospective Studies , Body Mass Index , Overweight
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