Acromegaly in a multiple endocrine neoplasia type 1 (MEN1) family with low penetrance of the disease

Dreijerink, Koen M.A.; Beek, André P van; Lentjes, Eef G.W.M.; Post, Jan G.; Luijt, Rob B. van der; Dijk, Marijke R. Canninga‐van; Lips, Cornelis J.M.

doi:10.1530/eje.1.02022

Cited by 14 publications

(7 citation statements)

References 38 publications

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“…Concordantly, no cases of acromegaly or GH hypersecretion were diagnosed in our family or in the Finnish MEN1 families (F3-F4), and this tumor was not confirmed or clearly reported in the other very large families (F2, F5). Recently, an even lower prevalence of acromegaly (3-7.4%; 10-17% of PIT) has been reported in MEN1 (43). In addition, the nine MEN1-S reviewed here presented only 5% of cases with acromegaly (8,10,16,17,19).…”

Section: Prevalence Of Classic Men1-related Tumorsmentioning

confidence: 53%

Multiple endocrine neoplasia type 1 in Brazil: MEN1 founding mutation, clinical features, and bone mineral density profile

Lourenço¹,

Toledo²,

Mackowiak³

et al. 2008

European Journal of Endocrinology

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Objective: Only few large families with multiple endocrine neoplasia type 1 (MEN1) have been documented. Here, we aimed to investigate the clinical features of a seven-generation Brazilian pedigree, which included 715 at-risk family members. Design: Genealogical and geographic analysis was used to identify the MEN1 pedigree. Clinical and genetic approach was applied to characterize the phenotypic and genotypic features of the family members. Results: Our genetic data indicated that a founding mutation in the MEN1 gene has occurred in this extended Brazilian family. Fifty family members were diagnosed with MEN1. Very high frequencies of functioning and non-functioning MEN1-related tumors were documented and the prevalence of prolactinoma (29.6%) was similar to that previously described in prolactinoma-variant Burin (32%). In addition, bone mineral density analysis revealed severe osteoporosis (T, K2.87G0.32) of compact bone (distal radius) in hyperparathyroidism (HPT)/MEN1 patients, while marked bone mineral loss in the lumbar spine (T, K1.95G0.39), with most cancellous bone, and femoral neck (mixed composition; T, K1.48G0.27) were also present. Conclusions: In this study, we described clinically and genetically the fifth largest MEN1 family in the literature. Our data confirm previous findings suggesting that prevalence of MEN1-related tumors in large families may differ from reports combining cumulative data of small families. Furthermore, we were able to evaluate the bone status in HPT/MEN1 cases, a subject that has been incompletely approached in the literature. We discussed the bone loss pattern found in our MEN1 patients comparing with that of patients with sporadic primary HPT.European Journal of Endocrinology 159 259-274

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Section: Prevalence Of Classic Men1-related Tumorsmentioning

confidence: 53%

Multiple endocrine neoplasia type 1 in Brazil: MEN1 founding mutation, clinical features, and bone mineral density profile

Lourenço¹,

Toledo²,

Mackowiak³

et al. 2008

European Journal of Endocrinology

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“…However, the actual prevalence of hypopituitarism in MEN1 is currently unknown. Somatotropinomas are relatively rare in MEN1 (14),(15) and should be differentiated from familial and isolated acromegaly/gigantism caused by other gene mutations, such as AIP (13),. Hypercortisolism occurs infrequently in MEN1 (up to 7% of cases) (14), although several studies involving large series reported no case with hypercortisolism in MEN1 (10),(36),(39),(41).…”

Section: Discussionmentioning

confidence: 99%

Biochemical, bone and renal patterns in hyperparathyroidism associated with multiple endocrine neoplasia type 1

Lourenço¹,

Coutinho²,

Toledo³

et al. 2012

Clinics

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Primary hyperparathyroidism associated with multiple endocrine neoplasia type I (hyperparathyroidism/multiple endocrine neoplasia type 1) differs in many aspects from sporadic hyperparathyroidism, which is the most frequently occurring form of hyperparathyroidism. Bone mineral density has frequently been studied in sporadic hyperparathyroidism but it has very rarely been examined in cases of hyperparathyroidism/multiple endocrine neoplasia type 1. Cortical bone mineral density in hyperparathyroidism/multiple endocrine neoplasia type 1 cases has only recently been examined, and early, severe and frequent bone mineral losses have been documented at this site. Early bone mineral losses are highly prevalent in the trabecular bone of patients with hyperparathyroidism/multiple endocrine neoplasia type 1. In summary, bone mineral disease in multiple endocrine neoplasia type 1-related hyperparathyroidism is an early, frequent and severe disturbance, occurring in both the cortical and trabecular bones. In addition, renal complications secondary to sporadic hyperparathyroidism are often studied, but very little work has been done on this issue in hyperparathyroidism/multiple endocrine neoplasia type 1. It has been recently verified that early, frequent, and severe renal lesions occur in patients with hyperparathyroidism/multiple endocrine neoplasia type 1, which may lead to increased morbidity and mortality. In this article we review the few available studies on bone mineral and renal disturbances in the setting of hyperparathyroidism/multiple endocrine neoplasia type 1. We performed a meta-analysis of the available data on bone mineral and renal disease in cases of multiple endocrine neoplasia type 1-related hyperparathyroidism.

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“…Acromegaly is an endocrine disorder which is caused in more than 95% of the cases by benign, growth hormone producing pituitary adenoma [23]. Other endocrine neoplasia such as parathyroid neoplasms can occur as part of an acromegaly-causing syndrome called multiple endocrine neoplasia (MEN) [24]. Hence, this branch involves endocrine disorders and known comorbidities.…”

Section: Resultsmentioning

confidence: 99%

Molecular mechanistic associations of human diseases

et al. 2010

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BackgroundThe study of relationships between human diseases provides new possibilities for biomedical research. Recent achievements on human genetic diseases have stimulated interest to derive methods to identify disease associations in order to gain further insight into the network of human diseases and to predict disease genes.ResultsUsing about 10000 manually collected causal disease/gene associations, we developed a statistical approach to infer meaningful associations between human morbidities. The derived method clustered cardiometabolic and endocrine disorders, immune system-related diseases, solid tissue neoplasms and neurodegenerative pathologies into prominent disease groups. Analysis of biological functions confirmed characteristic features of corresponding disease clusters. Inference of disease associations was further employed as a starting point for prediction of disease genes. Efforts were made to underpin the validity of results by relevant literature evidence. Interestingly, many inferred disease relationships correspond to known clinical associations and comorbidities, and several predicted disease genes were subjects of therapeutic target research.ConclusionsCausal molecular mechanisms present a unifying principle to derive methods for disease classification, analysis of clinical disorder associations, and prediction of disease genes. According to the definition of causal disease genes applied in this study, these results are not restricted to genetic disease/gene relationships. This may be particularly useful for the study of long-term or chronic illnesses, where pathological derangement due to environmental or as part of sequel conditions is of importance and may not be fully explained by genetic background.

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Acromegaly in a multiple endocrine neoplasia type 1 (MEN1) family with low penetrance of the disease

Cited by 14 publications

References 38 publications

Multiple endocrine neoplasia type 1 in Brazil: MEN1 founding mutation, clinical features, and bone mineral density profile

Multiple endocrine neoplasia type 1 in Brazil: MEN1 founding mutation, clinical features, and bone mineral density profile

Biochemical, bone and renal patterns in hyperparathyroidism associated with multiple endocrine neoplasia type 1

Molecular mechanistic associations of human diseases

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