ISSN:
1435-232X
Keywords:
congenital isolated thyroid-stimulating hormone deficiency
;
hypothyroidism
;
thyroid-stimulating hormone β chain
;
polymerase chain reaction (PCR)
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
,
Medicine
Notes:
Summary Previous study showed that congenital isolated TSH deficiency in Japan is resulted exclusively from a G-A transition at nucleotide 145 in exone 2 of the TSHβ-subunit gene. All reported cases were from the inbred in Shikoku Island. We describe here a 10-year-old boy with hereditary TSH deficiency in the same area. The patient was born with a weight of 3,225 g to non-consanguineous parents. Evaluation at age 2 months revealed typical manifestations of cretinism without goiter. Serum T4, T3, and TSH values were 2.53 μg/dl, 107 ng/dl, and 0.5 μU/ml, respectively. A TRH stimulation test showed no increment of serum TSH value. Other anterior pituitary hormone levels were all within the normal range. Two oligonucleotide primers T1a and T1b were synthesized according to the sequence data. Amplified 169 bp nucleotides in exon 2 of the TSHβ gene with this primer set were digested withMaeI. Both the phenotypically normal brother and normal controls showed only the 169 bp fragment, whereas the proband showed 140 and 29 bp fragments and both parents showed three fragments; 169, 140, and 29 bp. These results were consistent with the point mutation of TSHβ gene in Japanese patients with congenital isolated TSH deficiency. Our PCR method withMaeI digestion contributes to the rapid detection of the homozygous patient and the heterozygous carrier.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF01883604
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