Clinical Impact of Molecular Diagnostics in Endocrinology
January 2002
in “
Hormone Research in Paediatrics
”
endocrine diseases molecular diagnostics genetic defects differential diagnosis preventive therapeutic options multiple endocrine neoplasia type 2 adrenogenital syndrome steroid 21-hydroxylase gene non-classical 21-hydroxylase deficiency Multiple Endocrine Neoplasia Type 2 MTC RET mutations prophylactic thyroidectomy MEN2 thyroid cancer RET gene
Studysummary This review discusses molecular testing for endocrine diseases, highlighting its diagnostic benefits and potential for prevention, particularly in conditions like multiple endocrine neoplasia type 2 and adrenogenital syndrome, but reports no new clinical results.
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