A new case of familial nonautoimmune hyperthyroidism caused by the M463V mutation in the TSH receptor with anticipation of the disease across generations: a possible role of iodine supplementation.
Thyroid
; 17(7): 677-80, 2007 Jul.
Article
em En
| MEDLINE
| ID: mdl-17696839
ABSTRACT
OBJECTIVE:
Hereditary (familial) nonautoimmune hyperthyroidism (FNAH) is caused by activating thyroid-stimulating hormone (thyrotropin) receptor (TSHR) germline mutations. We describe a family with recurrent thyrotoxicosis and goiter across three generations, including an 8-year-old girl. MAINOUTCOME:
Sequences of the TSHR gene in the index patient, her father, her paternal grandmother, and a paternal uncle demonstrated the presence of an identical germline TSHR mutation. The mutation was heterozygous and determined the substitution of valine for methionine (codon 463; ATG-->GTG) in the second transmembrane domain of the TSHR in all the affected patients, but in none of the unaffected family members.CONCLUSIONS:
We compared the clinical presentation of FNAH in the family reported by us with the other cases harboring the same mutation reported in the literature. This analysis revealed high variability in the phenotypical expression of the disease. In the family reported by us, we also observed a clear anticipation of the onset of the disease across generations, and we discussed whether such a phenomenon can be the consequence of the increased iodine supplementation in the area where the family lives.
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Base de dados:
MEDLINE
Assunto principal:
Receptores da Tireotropina
/
Mutação em Linhagem Germinativa
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Substituição de Aminoácidos
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Hipertireoidismo
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Iodo
Tipo de estudo:
Etiology_studies
Idioma:
En
Revista:
Thyroid
Ano de publicação:
2007
Tipo de documento:
Article
País de afiliação:
Itália