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Full-Text Articles in Endocrinology, Diabetes, and Metabolism

Presumed Familial Late-Onset Medullary Thyroid Cancer In A Patient With A Germline Point Mutation, C. 2304 G->T, In Ret Proto-Oncogene Codon 768: Specific Mutation May Guide Timing Of Prophylactic Total Thyroidectomy In Affected Family Members, Susan Gerber, Md, Madalina Tuluc, Md, Phd, Serge Jabbour, Md, Facp, Face Jun 2013

Presumed Familial Late-Onset Medullary Thyroid Cancer In A Patient With A Germline Point Mutation, C. 2304 G->T, In Ret Proto-Oncogene Codon 768: Specific Mutation May Guide Timing Of Prophylactic Total Thyroidectomy In Affected Family Members, Susan Gerber, Md, Madalina Tuluc, Md, Phd, Serge Jabbour, Md, Facp, Face

Department of Medicine Faculty Papers

Medullary thyroid carcinoma (MTC) accounts for 15% of thyroid cancers. It arises in the C-cells of the thyroid, and is often metastatic at presentation. Approximately 75% of MTC cases are sporadic. Heritable MTC is subdivided into three categories: MEN2A, familial medullary thyroid carcinoma (FMTC), and MEN2B. Determination of the particular mutation may guide the timing of prophylactic total thyroidectomy in family members who carry the mutation.


Ectopic Cushing's Syndrome From Acth-Producing Pheochromocytoma, Susan Gerber, Md, Lawrence C. Kenyon, Md, Phd, Mary Kate Mccullen, Serge Jabbour, Md, Facp, Face Jun 2013

Ectopic Cushing's Syndrome From Acth-Producing Pheochromocytoma, Susan Gerber, Md, Lawrence C. Kenyon, Md, Phd, Mary Kate Mccullen, Serge Jabbour, Md, Facp, Face

Department of Medicine Faculty Papers

ACTH-dependent Cushing’s syndrome results from excessive ACTH secretion from a pituitary gland adenoma (Cushing’s disease) in 80% of cases. Much less commonly, ectopic ACTH production occurs outside the pituitary gland, with the majority of those cases caused by bronchial carcinoids. A small number are due to excessive ACTH secretion by a pheochromocytoma.