6 research outputs found
Dilated Cardiomyopathy as the Predominant Feature of Cushing's Syndrome
Cushing’s syndrome, resulting from exposure to excessive amounts of
circulating glucocorticoids, is accompanied with a high mortality risk
mostly due to the cardiovascular complications. Cardiac involvement is
mainly associated with left ventricular hypertrophy. We report the case
of a patient who presented with dilated cardiomyopathy as the
predominant feature Of Cushing’s syndrome, which was fully reversed
after proper Surgical treatment
Multiple endocrine neoplasia type 2A in two families with the familial medullary thyroid carcinoma associated G533C mutation of the RET proto-oncogene
Introduction: Multiple endocrine neoplasia type 2A (MEN2A) is an
autosomal domin ant hereditary disorder, associated with a cluster of
germline gain-of-function mutations of the RET proto-oncogene (RET),
mainly in exons 10-15. The G533C mutation in exon 8 of the RET is rare
and has been mainly related to the familial medullary thyroid carcinoma.
Patients-methods: We describe the RET G533C mutation in exon 8 of the
RET in two unrelated female index patients, with MEN2A phenotype,
consisting of pheochromocytoma which was the presenting feature and
medullary thyroid carcinoma. In addition, 12 family members were also
studied. DNA extraction, PCR, and sequencing of RET was performed in
exons 7-19 and 21, following standard procedures.
Results: The mutation was found in both index patients and in 6 out of
12 family members (50%). Three of them were biochemically affected with
histologically proven medullary thyroid carcinoma in two of them while
there are no certain clues regarding the other three members as they
declined further evaluation.
Conclusion: Patients with MEN2A should be also searched in exon 8 while
positive carriers of this mutation should be screened annually for
pheochromocytoma or other components of the syndrome