Clinical Impact of Molecular Diagnostics in Endocrinology
November 2004
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
TLDR Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
The 2004 study "Clinical Impact of Molecular Diagnostics in Endocrinology" by Wolfgang Höppner discussed the role of genetic defects in causing complex endocrine diseases. The study highlighted the importance of molecular diagnostics in identifying these genetic defects, which can aid in differential diagnosis and determining effective preventive therapeutic options. The paper provided examples of endocrine diseases where molecular testing significantly increased diagnostic specificity and sensitivity. In multiple endocrine neoplasia type 2, genetic testing allowed for clear identification of gene carriers in affected families. In adrenogenital syndrome, sequence analysis of the steroid 21-hydroxylase gene became an important tool to confirm or exclude suspected late-onset forms of the disease. The study also discussed the clinical impact of molecular diagnostics in diagnosing non-classical 21-hydroxylase deficiency and Multiple Endocrine Neoplasia Type 2 (MEN2). Molecular biology now enables us to easily distinguish between sporadic and hereditary MTC and affords an early identification of gene carriers of RET mutations who are bound to develop MTC later in life. For these patients, early prophylactic thyroidectomy is recommended to ensure definitive cure.
