Hyperparathyroidism presenting as the first lesion in multiple endocrine neoplasia Type I

Benson, Lars; Ljunghall, Sverker; Åkerström, Göran; Öberg, Kjell

doi:10.1016/0002-9343(87)90008-8

Cited by 141 publications

(88 citation statements)

References 20 publications

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“…[18][19][20] However, lower prevalences (18%-21%) have been also documented by others. 21,22 In 17% of MEN1 cases, a pituitary adenoma may be the initial lesion.…”

Section: Pituitary Tumors In Men1mentioning

confidence: 63%

The Impact of Clinical and Genetic Screenings on the Management of the Multiple Endocrine Neoplasia Type 1

Lourenço-Jr

Toledo

Coutinho

et al. 2007

Clinics

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METHODS:The clinical diagnosis of MEN1 was made in accordance with the Consensus on multiple endocrine neoplasias. Mutation analysis of the entire MEN1 tumor suppressor gene and genetic screening of at-risk family members were performed by direct sequencing. To analyze the implementation of genetic diagnosis, the studied patients were separated into 3 groups: MEN1 index cases (group I), clinically diagnosed MEN1 cases (group II), and genetically diagnosed MEN1 cases (group III). RESULTS: In total, 154 individuals were clinically and genetically studied. We identified 12 different MEN1 mutations. Fifty-two MEN1 cases were identified: 13 in group I, 28 in group II, and 11 in group III. The mean age in group III (27.0 years) was significantly lower than in groups I (39.5 years) and II (42.4 years; P = 0.03 and P = 0.01, respectively). Patients in groups I and II mostly presented 2 or 3 MEN1-related tumors, while 81.8% of those in group III presented 1 or no MEN1-related tumor. Additionally, in group III, 45.4% of cases were asymptomatic, and no metastasis or death was verified. Surveillance for MEN1 mutations allowed the exclusion of 102 noncarriers, including a case of MEN1 phenocopy. CONCLUSION: Our data supports the benefits of clinical and genetic screening for multiple endocrine neoplasia type 1 in the management of this syndrome.

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“…[18][19][20] However, lower prevalences (18%-21%) have been also documented by others. 21,22 In 17% of MEN1 cases, a pituitary adenoma may be the initial lesion.…”

Section: Pituitary Tumors In Men1mentioning

confidence: 63%

The Impact of Clinical and Genetic Screenings on the Management of the Multiple Endocrine Neoplasia Type 1

Lourenço-Jr

Toledo

Coutinho

et al. 2007

Clinics

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“…Primary hyperparathyroidism is the most common feature of MEN1 and occurs in more than 95% of all MEN1 patients (Benson et al 1987, Marx et al 1986,Thakker 1995, Trump et al 1996. Patients may present with asymptomatic hypercalcaemia, or nephrolithiasis, or osteitis fibrosa cystica or vague symptoms associated with hypercalcaemia, for example polyuria, polydipsia, constipation, malaise or occasionally with peptic ulcers.…”

Section: Parathyroid Tumoursmentioning

confidence: 99%

Multiple endocrine neoplasia type 1.

Pannett¹,

Thakker²

1999

Endocrine-Related Cancer

188

112

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Combined clinical and laboratory investigations of multiple endocrine neoplasia type 1 (MEN1) have resulted in an increased understanding of this disorder which may be inherited as an autosomal dominant condition. Defining the features of each disease manifestation in MEN1 has improved patient management and treatment, and has also facilitated a screening protocol to be instituted. The application of the techniques of molecular biology has enabled the identification of the gene causing MEN1 and the detection of mutations in patients. The function of the protein encoded by the MEN1 gene has been shown to be in the regulation of JunD-mediated transcription but much still remains to be elucidated. However, these recent advances provide for the identification of mutant MEN1 gene carriers who are at a high risk of developing this disorder and thus require regular and biochemical Endocrine-Related Cancer (1999) 6 449-473 screening to detect the development of endocrine tumours.

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“…The clinical diagnosis is considered when more than one organ system is affected. Our index patient presented with assumed PHPT, which is typically the first manifestation of MEN1 and occurs in 95% of cases 18, 19. In addition, he had a NET (formerly known as carcinoid), which have been reported to occur in 4% of MEN1 patients 16, 19, 20.…”

Section: Discussionmentioning

confidence: 93%

Multiple endocrine neoplasia phenocopy revealed as a co‐occurring neuroendocrine tumor and familial hypocalciuric hypercalcemia type 3

Hovden

Jespersen

Nissen

et al. 2016

Clinical Case Reports

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Hyperparathyroidism presenting as the first lesion in multiple endocrine neoplasia Type I

Cited by 141 publications

References 20 publications

The Impact of Clinical and Genetic Screenings on the Management of the Multiple Endocrine Neoplasia Type 1

The Impact of Clinical and Genetic Screenings on the Management of the Multiple Endocrine Neoplasia Type 1

Multiple endocrine neoplasia type 1.

Multiple endocrine neoplasia phenocopy revealed as a co‐occurring neuroendocrine tumor and familial hypocalciuric hypercalcemia type 3

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