scholarly journals Peak Incidence of Pheochromocytoma and Primary Hyperparathyroidism in Multiple Endocrine Neoplasia 2: Need for Age-Adjusted Biochemical Screening

2013 ◽  
Vol 98 (2) ◽  
pp. E336-E345 ◽  
Author(s):  
Andreas Machens ◽  
Kerstin Lorenz ◽  
Henning Dralle
Keyword(s):  
Primary Hyperparathyroidism ◽  
Multiple Endocrine Neoplasia ◽  
Biochemical Screening ◽  
Peak Incidence ◽  
Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia 2

The clinical characteristics of primary hyperparathyroidism (PHPT) in patients with multiple endocrine neoplasia (MEN) type 1

2013 ◽  
Author(s):  
Liliya Rostomyan ◽  
Nataliya Mokrysheva ◽  
Anatoly Tiulpakov ◽  
Alla Artemova ◽  
Nataliya Kirdyankina ◽  
...  
Keyword(s):  
Primary Hyperparathyroidism ◽  
Clinical Characteristics ◽  
Multiple Endocrine Neoplasia ◽  
Endocrine Neoplasia

Limited Parathyroidectomy in Multiple Endocrine Neoplasia Type 1-Associated Primary Hyperparathyroidism: A Setup for Failure

2015 ◽  
Vol 23 (2) ◽  
pp. 416-423 ◽  
Author(s):  
Naris Nilubol ◽  
Lee S. Weinstein ◽  
William F. Simonds ◽  
Robert T. Jensen ◽  
Stephen J. Marx ◽  
...  
Keyword(s):  
Primary Hyperparathyroidism ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

scholarly journals Molecular Basis of Primary Hyperparathyroidism

2010 ◽  
Vol 2 (2) ◽  
pp. 63-70
Author(s):  
Peyman Björklund ◽  
Lee F Starker ◽  
Annabelle L Fonseca ◽  
Tobias Carling
Keyword(s):  
Primary Hyperparathyroidism ◽  
Genetic Predisposition ◽  
Molecular Basis ◽  
Multiple Endocrine Neoplasia ◽  
Autosomal Dominant ◽  
Multiple Endocrine Neoplasia Type ◽  
Dominant Inheritance ◽  
The Past ◽  
Endocrine Neoplasia

Abstract During the past decade and a half, studies of genetic predisposition, parathyroid tumorigenesis, and molecular genetics of familial hyperparathyroid disorders have started to unveil the molecular basis of pHPT. Primary HPT is found in several distinct disorders with autosomal dominant inheritance such as in multiple endocrine neoplasia type 1 (MEN1), MEN2A, the HPT-jaw tumor syndrome (HPT-JT), familial isolated hyperparathyroidism (FIHPT), autosomal dominant mild hyperparathyroidism (ADMH), and neonatal severe HPT (NSHPT).

scholarly journals Multiple endocrine neoplasia 2 in Cyprus: evidence for a founder effect

2018 ◽  
Vol 41 (10) ◽  
pp. 1149-1157 ◽  
Author(s):  
P. Fanis ◽  
N. Skordis ◽  
S. Frangos ◽  
G. Christopoulos ◽  
E. Spanou-Aristidou ◽  
...  
Keyword(s):  
Founder Effect ◽  
Multiple Endocrine Neoplasia ◽  
Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia 2

Single Centre Experience in Patients with Primary Hyperparathyroidism: Sporadic, Lithium-associated and in Multiple Endocrine Neoplasia

2019 ◽  
Vol 128 (10) ◽  
pp. 693-698
Author(s):  
Sabine Dillenberger ◽  
Detlef K. Bartsch ◽  
Elisabeth Maurer ◽  
Peter Herbert Kann
Keyword(s):  
Primary Hyperparathyroidism ◽  
Multiple Endocrine Neoplasia ◽  
University Hospital ◽  
Primary Surgery ◽  
Endocrine Neoplasia ◽  
Single Centre Experience ◽  
Significant Difference ◽  
History Of ◽  
The University

Abstract Purpose It is assumed that primary hyperparathyroidism (pHPT) in Multiple Endocrine Neoplasia (MEN) and lithium-associated pHPT (LIHPT) are associated with multiple gland disease (MGD), persistence and recurrence. The studies purpose was to determine frequencies, clinical presentation and outcome of sporadic pHPT (spHPT), LIHPT and pHPT in MEN. Additional main outcome measures were the rates of MGD and persistence/recurrence. Methods Retrospective analysis of medical records of 682 patients with pHPT who had attended the University Hospital of Marburg between 01–01–2004 and 30–06–2013. All patients were sent a questionnaire asking about their history of lithium medication. Results Out of 682 patients, 557 underwent primary surgery (532 spHPT, 5 LIHPT, 20 MEN), 38 redo-surgery (31 spHPT, 7 MEN), 55 were in follow-up due to previous surgery (16 spHPT, 1 LIHPT, 38 MEN) and 37 were not operated (33 spHPT, 1 LIHPT, 3 MEN). Primary surgeries were successful in 97.4%, revealed singular adenomas in 92.4%, double adenomas in 2.9% and MGD in 3.4% of the cases. Rates of MGD in MEN1 (82.35%) were significantly higher than in spHPT (3.8%), while there was no significant difference between LIHPT (20%) and spHPT. Rates of persistence/recurrence did not significantly differ due to type of surgery (bilateral/unilateral) or type of HPT (spHPT/LIHPT/MEN). Conclusions History of lithium medication is rare among pHPT patients. While MGD is common in MEN1, rates of MGD, persistence or recurrence in LIHPT were not significantly higher than in spHPT.

scholarly journals Clinical Features of Multiple Endocrine Neoplasia Type 4: Novel Pathogenic Variant and Review of Published Cases

2019 ◽  
Vol 104 (9) ◽  
pp. 3637-3646 ◽  
Author(s):  
Anja Frederiksen ◽  
Maria Rossing ◽  
Pernille Hermann ◽  
Charlotte Ejersted ◽  
Rajesh V Thakker ◽  
...  
Keyword(s):  
Primary Hyperparathyroidism ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Current Knowledge ◽  
Pituitary Tumors ◽  
Pathogenic Variant ◽  
Endocrine Tumors ◽  
Disease Manifestation ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

Abstract Context The clinical phenotype of multiple endocrine neoplasia type 4 (MEN4) is undefined due to a limited number of published cases. Knowledge on disease manifestation in MEN4 is essential for developing prevention programs and treatment. Objective To expand current knowledge of the MEN4 phenotype including assessment of penetrance. Design This is a case report and a brief review of previously published MEN4 cases. Patients We report a large Danish family with multiple cases of endocrine tumors that segregated with a pathogenic variant in the CDKN1B gene. Main Outcome/Result The medical history of the proband included primary hyperparathyroidism and Cushing disease. Genetic analysis identified a pathogenic variant in CDKN1B (c.121_122delTT, p.Leu41Asnfs*83). Among the family members, another 12 individuals were identified as carriers of the same variant, which segregated with development of endocrine tumors. Hypercalcemia due to primary hyperparathyroidism occurred in all 13 of the available carriers of the genetic variant, and 4 patients also had functioning or nonfunctioning pituitary adenomas, whereas 1 patient had a metastatic neuroendocrine tumor (carcinoid). Loss-of-heterozygosity was detected in two of five parathyroid adenomas, supporting that CDKN1B acts as a tumor suppressor gene. Thirty cases representing 16 different CDKN1B variants have previously been reported, and these cases presented primarily with primary hyperparathyroidism and functioning and nonfunctioning pituitary tumors. Conclusion Hypercalcemia due to primary hyperparathyroidism and pituitary tumors are common in MEN4. Gastrointestinal neuroendocrine tumors appear to be less prevalent in MEN4 than in MEN1.

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