Presentation of a Medullary Endocrine Neoplasia 2A Kindred with Cushing's Syndrome

2008 ◽  
Vol 74 (7) ◽  
pp. 659-661
Author(s):  
Victor Zaydfudim ◽  
Daniel G. Stover ◽  
Susan W. Caro ◽  
John E. Phay
Keyword(s):  
Genetic Testing ◽  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Cushing’S Syndrome ◽  
Cushing's Syndrome ◽  
Ectopic Acth ◽  
Medullary Thyroid ◽  
Endocrine Neoplasia ◽  
Ectopic Acth Production ◽  
Men 2A

Although medullary thyroid cancer (MTC) can produce adrenocorticotropic hormone (ACTH) in up to 40 per cent of cases as determined by immunohistochemistry, clinical hypercortisolism is rarely seen. We report a medullary endocrine neoplasia 2A (MEN 2A) kindred whose proband case presented with Cushing's syndrome (CS). This 51-year-old woman presented with debilitating weakness, exertional dyspnea, 50 pound weight gain, moon facies, worsening hypertension, striae, and hirsutism. A comprehensive evaluation diagnosed ectopic ACTH production from unresectable metastatic MTC to the liver. Genetic testing revealed a germline RET proto-oncogene mutation at codon 609. Further genetic testing identified six family members with the same mutation. The patient underwent palliative bilateral laparoscopic adrenalectomies with significant improvement in major comorbidities. Overall CS resulting from ectopic ACTH overproduction by MTC is rare, occurring in 0.6 per cent of all patients with medullary thyroid carcinoma. About 50 cases have been previously reported in the literature, but only three in families with MEN 2A. We describe the first case of a MEN 2A kindred presenting with CS from ectopic ACTH production by metastatic medullary thyroid carcinoma. We advocate consideration of early bilateral laparoscopic adrenalectomies in patients with symptomatic hypercortisolism from unresectable metastatic medullary thyroid carcinoma.

MEN 2A with double mutation in RET gene: Ectopic ACTH production in medullary thyroid carcinoma

2016 ◽  
Vol 146 (9) ◽  
pp. 419-420
Author(s):  
Jessica Ares ◽  
Lucía Díaz-Naya ◽  
Alicia Martín-Nieto ◽  
Joaquín Pertierra
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Ectopic Acth ◽  
Double Mutation ◽  
Medullary Thyroid ◽  
Ret Gene ◽  
Ectopic Acth Production ◽  
Men 2A

ECTOPIC ACTH SYNDROME AND MEDULLARY THYROID CARCINOMA

1977 ◽  
Vol 86 (2) ◽  
pp. 306-316 ◽  
Author(s):  
G. Keusch ◽  
U. Binswanger ◽  
M. A. Dambacher ◽  
J. A. Fischer
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Cushing’S Syndrome ◽  
Clinical Signs ◽  
Cushing's Syndrome ◽  
Ectopic Acth Syndrome ◽  
Ectopic Acth ◽  
Medullary Thyroid ◽  
Ectopic Cushing’S Syndrome ◽  
Normal Pituitary Gland

ABSTRACT A 40 year old patient with medullary thyroid carcinoma subsequently developed Cushing's syndrome with presumably ectopic ACTH formation. The immunoreactive calcitonin in the plasma was greatly and ACTH slightly increased. Despite the excessively high calcitonin concentration the patient finally developed a serious osteoporosis which presumably resulted from Cushing's syndrome. In this case at least, a raised endogenous plasma calcitonin level did not prevent an osteoporosis caused by hypercortisolism. The autopsy revealed a bilateral hyperplasia of the adrenal cortex and a normal pituitary gland suggesting that Cushing's syndrome was probably caused by an ectopic ACTH source. Twenty-two additional cases of medullary thyroid carcinoma with Cusing's syndrome reported in the literature have been reviewed. Eighteen out of 23 patients were alkalotic which is typical of an ectopic ACTH production. In these patients the characteristic clinical signs of hypercortisolism were nearly as frequently observed (70 %) as in patients with non-ectopic Cushing's syndrome (91 %). An ectopic Cushing's syndrome occurs only in 2–4 % of advanced cases of medullary thyroid carcinoma and is a serious complication. Among the 23 patients 18 died with an average survival time of only 4.5 months after the diagnosis of Cushing's syndrome was established.

scholarly journals Genetic testing identifies the potential risk of multiple endocrine neoplasia in a Vietnamese family

2020 ◽  
Vol 18 (2) ◽  
pp. 223-229
Author(s):  
Nguyen Hai Ha ◽  
Nguyen Thi Thanh Hoa ◽  
Pham Thi Dung ◽  
Nguyen Huy Binh ◽  
Nguyen Dang Ton
Keyword(s):  
Genetic Testing ◽  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Multiple Endocrine Neoplasia ◽  
Pathogenic Mutation ◽  
High Risk Group ◽  
Medullary Thyroid ◽  
Endocrine Neoplasia ◽  
Incidence And Mortality ◽  
Cutaneous Lichen Amyloidosis

Multiple endocrine neoplasia type 2A (MEN2A) is a rare syndrome characterized by the presence of medullary thyroid carcinoma, pheochromocytoma, hyperparathyroidism and sometimes cutaneous lichen amyloidosis. This syndrome is caused by a germline activation mutation in the rearranged during transfection (RET) proto-oncogene transmitted by an autosomal dominant inheritance. In this study, we reported a rare case of a 44-year-old man from Vietnam with medullary thyroid carcinoma and pheochromocytoma as the symptom of MEN2A. Genetic testing indicated a nucleotide substitution located in exon 11 of the RET proto-oncogene (c.1900T>C, p.C634R), which was reported as a known pathogenic mutation of MEN2A. Further genetic tests on the other family members found the same mutation in his daughter (currently 14 years-old) and his son (currently 8 years-old). Although these 2 children do not yet have any manifestations of MEN2A, this data emphasizes their high risks of this disease. Therefore, this case draws attention to the importance of genetic counselling in C634R carriers, as well as rigorous follow-up appointments to reduce incidence and mortality since the mutation is classified as a high-risk group within the medullary thyroid carcinoma guidelines.

Cushing’s syndrome in medullary thyroid carcinoma

1995 ◽  
Vol 18 (3) ◽  
pp. 180-185 ◽  
Author(s):  
A. Mure ◽  
C. Gicquel ◽  
N. Abdelmoumene ◽  
F. Tenenbaum ◽  
C. Francese ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Cushing’S Syndrome ◽  
Cushing's Syndrome ◽  
Medullary Thyroid

MEDULLARY THYROID CARCINOMA: ECTOPIC PRODUCTION OF PEPTIDES WITH ACTH-LIKE, CORTICOTROPHIN RELEASING FACTOR-LIKE AND PROLACTIN PRODUCTION-STIMULATING ACTIVITIES

1976 ◽  
Vol 83 (2) ◽  
pp. 280-292 ◽  
Author(s):  
Jan C. Birkenhäger ◽  
G. Virginia Upton ◽  
H. Jaqueline Seldenrath ◽  
Dorothy T. Krieger ◽  
Armen H. Tashjian
Keyword(s):  
Thyroid Gland ◽  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Cushing’S Syndrome ◽  
Cushing's Syndrome ◽  
Biologically Active ◽  
Medullary Thyroid ◽  
Corticotrophin Releasing Factor ◽  
Lysine Vasopressin ◽  
Arterial Plasma

ABSTRACT A 45-year-old women had medullary thyroid carcinoma associated with Cushing's syndrome and galactorrhoea. Elevated plasma immunoreactive ACTH and cortisol were partially suppressed by intravenous dexamethasone, appreciably raised by lysine vasopressin, and urinary excretion of 17-oxogenic steroids slightly elevated by metyrapone. A large arterio-venous increase in plasma corticotrophin releasing factor-like activity across the thyroid gland was observed and tumour tissue contained corticotrophin releasing factor-like activity. Biologically active ACTH was not detected in tumour extracts before incubation with trypsin, but after trypsinization a value of 3.2 mU per gram was obtained. Arterial plasma contained biologically active ACTH (1.5 mU/100 ml) prior to trypsinization. Venous effluent from the thyroid gland contained biologically active (9.6 mU/100 ml) and immunoreactive ACTH (970 pg/ml) before trypsinization. Tumour extracts also contained prolactin production-stimulating activity. These findings can explain the Cushing's syndrome and the galactorrhoea both of which disappeared completely after thyroidectomy.

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