References of "CASTERMANS, Emilie"
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See detailUne forme compliquée d'hypercalcémie hypocalciurique familiale
Potorac, Iulia ULg; BETEA, Daniela ULg; MALAISE, Olivier ULg et al

in Abstract book - Symposium "Perspectives in Endocrinology" (2016, January)

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See detailThe genetic causes of pituitary gigantism
Rostomyan, Liliya ULg; Lysy, P; Desfilles, C et al

in Abstract book - Symposium "Perspectives in Endocrinology" (2016, January)

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See detailGPR101 mutations are not a frequent cause of congenital isolated growth hormone deficiency
Castinetti, F; Daly, Adrian ULg; Stratakis, CA et al

in Hormone & Metabolic Research (2016)

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See detailUne forme compliquée d'hypercalcémie hypocalciurique familiale
Potorac, Iulia ULg; BETEA, Daniela ULg; MALAISE, Olivier ULg et al

in Abstract book - Annales d'Endocrinologie - 32ème Congrès de la Société Française d'Endocrinologie (2015, October)

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See detailHyperparathyroïdie primaire familiale isolée - corrélation génotype - phénotype des mutations MEN 1?
Potorac, Iulia ULg; BETEA, Daniela ULg; PETROSSIANS, Patrick ULg et al

in Abstract book - Annales d'Endocrinologie - 32ème Congrès de la Société Française d'Endocrinologie (2015, October)

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See detailEtude moléculaire du gène AIP sur plus de 1400 individus atteints d'adénome hypophysaire
CASTERMANS, Emilie ULg; Auriemma, R; Rostomyan, Liliya ULg et al

in Abstract book - Annales d'Endocrinologie - 32ème Congrès de la Société Française d'Endocrinologie (2015, October)

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See detailThe genetic causes of pituitary gigantism
Rostomyan, Liliya ULg; Daly, Adrian ULg; PETROSSIANS, Patrick ULg et al

in Endocrine Abstracts (2015, May)

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See detailX-Linked acro-gigantism (X-LAG) syndrome : a new form of infant-onset pituitary gigantism
Stratakis, CA; Trivellin, G; Rostomyan, Liliya ULg et al

in Abstract book - 14th International Pituitary Congress (2015, March)

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See detailDisease characteristics of patients with X-linked acrogigantism (X-LAG) syndrome
Daly, Adrian ULg; Lodish, MB; Trivellin, G et al

in Abstract book - ENDO 2015 (2015, March)

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See detailX-Linked acro-gigantism (X-LAG) due to microduplications of chromosome Xq26 : A new disorder and implications for acromegaly
Trivellin, G; Daly, AF; Faucz, FR et al

in Abstract book - ENDO 2015 (2015, March)

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See detailGrowth hormone releasing hormone excess and blockade in X-LAG syndrome.
Daly, Adrian Francis ULg; Lysy, Philippe; Defilles, Celine et al

in Endocrine-related cancer (2015)

X-linked acrogigantism (X-LAG) syndrome is a newly-described form of inheritable pituitary gigantism that begins in early childhood and is usually associated with markedly elevated growth hormone (GH) and ... [more ▼]

X-linked acrogigantism (X-LAG) syndrome is a newly-described form of inheritable pituitary gigantism that begins in early childhood and is usually associated with markedly elevated growth hormone (GH) and prolactin secretion by mixed pituitary adenomas/hyperplasia. Microduplications on chromosome Xq26.3 including the GPR101 gene cause X-LAG syndrome. In individual cases random GH-releasing hormone (GHRH) levels have been elevated. We performed a series of hormonal profiles in a young female sporadic X-LAG syndrome patient and subsequently undertook in vitro studies of primary pituitary tumor culture following neurosurgical resection. The patient demonstrated consistently elevated circulating GHRH levels throughout preoperative testing, which was accompanied by marked GH and prolactin hypersecretion; GH demonstrated a paradoxical increase following TRH administration. In vitro, the pituitary cells showed baseline GH and prolactin release that was further stimulated by GHRH administration. Co-incubation with GHRH and the GHRH receptor antagonist, acetyl-(D-Arg(2))-GHRH (1-29) amide, blocked the GHRH-induced GH stimulation; the GHRH receptor antagonist alone significantly reduced GH release. Pasireotide, but not octreotide, inhibited GH secretion. A ghrelin receptor agonist and an inverse agonist led to modest, statistically significant increases and decreases in GH secretion, respectively. GHRH hypersecretion can accompany the pituitary abnormalities seen in X-LAG syndrome. These data suggest that the pathology of X-LAG syndrome may include hypothalamic dysregulation of GHRH secretion, which is in keeping with localization of GPR101 in the hypothalamus. Therapeutic blockade of GHRH secretion could represent a way to target the marked hormonal hypersecretion and overgrowth that characterizes X-LAG syndrome. [less ▲]

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See detailUnravelling the intra-familial correlations and heritability of tumor types in MEN1, a GTE study.
Thevenon, Julien; Bourredjem, Abderrahmane; Faivre, Laurence et al

in European journal of endocrinology / European Federation of Endocrine Societies (2015), 173(6), 819-826

BACKGROUND: Multiple Endocrine Neoplasia syndrome type 1 (MEN1), which is secondary to mutation of the MEN1 gene, is a rare autosomal-dominant disease that predisposes mutation carriers to endocrine ... [more ▼]

BACKGROUND: Multiple Endocrine Neoplasia syndrome type 1 (MEN1), which is secondary to mutation of the MEN1 gene, is a rare autosomal-dominant disease that predisposes mutation carriers to endocrine tumors. Most studies demonstrated the absence of direct genotype-phenotype correlations. The existence of a higher risk of death in the GTE-cohort associated with a mutations in the JunD interacting domain, suggests heterogeneity across families in disease expressivity. This study aims to assess the existence of modifying genetic factors by estimating the intra-familial correlations and heritability of the six main tumor types in MEN1. METHODS: The study included 797 patients from 265 kindred and studied seven phenotypic criteria: parathyroid and pancreatic neuroendocrine tumors (NETs), pituitary, adrenal, bronchial and thymic tumors (ThNETs) and the presence of metastasis. Intra-familial correlations and heritability estimates were calculated from family tree data using specific validated statistical analysis software. RESULTS: Intra-familial correlations were significant and decreased along parental degrees distance for pituitary, adrenal and th-NETs. The heritability of these three tumor types was consistently strong and significant with 64% (Standard Error [SE]=0.13; p < 0.001) for pituitary tumor, 65% (SE=0,21; p < 0.001) for adrenal tumors, and 97% (SE=0.41; p=0.006) for thNETs. CONCLUSION: The present study shows the existence of modifying genetic factors for thymus, adrenal and pituitary MEN1 tumor types. The identification of at-risk subgroups of individuals within cohorts is the first step towards personalization of care. Next generation sequencing on this subset of tumors will help identify the molecular basis of MEN1 variable genetic expressivity. [less ▲]

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See detailClinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients.
Rostomyan, Liliya ULg; Daly, Adrian ULg; PETROSSIANS, Patrick ULg et al

in Endocrine-related cancer (2015)

Despite being a classical growth disorder, pituitary gigantism has not been studied previously in a standardized way. We performed a retrospective, multicenter, international study to characterize a large ... [more ▼]

Despite being a classical growth disorder, pituitary gigantism has not been studied previously in a standardized way. We performed a retrospective, multicenter, international study to characterize a large series of pituitary gigantism patients. We included 208 patients (163 males; 78.4%) with growth hormone excess and current/previous abnormal growth velocity for age or final height >2SD above country normal means. The median onset of rapid growth was 13.0 years and occurred significantly earlier in females than in males; pituitary adenomas were diagnosed earlier in females than males (15.8 vs. 21.5 years, respectively). Adenomas were >/=10 mm (i.e. macroadenomas) in 84%, of which extrasellar extension occurred in 77% and invasion in 54%. GH/IGF-1 control was achieved in 39% during long-term follow-up. Final height was greater in those with younger age of onset, with larger tumors and higher GH levels. Later disease control was associated with a greater difference from mid-parental height (r=0.23, P=0.02). AIP mutations occurred in 29%; microduplication at Xq26.3 -X-linked acro-gigantism (X-LAG)- occurred in two familial isolated pituitary adenoma (FIPA) kindreds and in ten sporadic patients. Tumor size was not different in X-LAG, AIP mutated and genetically-negative patient groups. AIP-mutated and X-LAG patients had significantly younger age at onset and diagnosis, but disease control was worse in genetically-negative cases. Pituitary gigantism patients are characterized by male predominance and large tumors that are difficult to control. Treatment delay increases final height and symptom burden. AIP mutations and X-LAG explain many cases, but no genetic etiology is seen in >50% of cases. [less ▲]

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See detailX-linked acrogigantism (X-LAG) syndrome : Clinical Profile and Therapeutic responses
Beckers, Albert ULg; Lodish, MB; Trivellin, G et al

in Endocrine-Related Cancer (2015), 22

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See detailLe cancer thyroïdien papillaire familial (FNMTC): études cliniques et génétiques chez 8 familles
VALDES SOCIN, Hernan Gonzalo ULg; Daly, Adrian ULg; Burlacu, C et al

in Abstract book - Annales d'Endocrinologie : 31ème Congrès de la Société Française d'Endocrinologie, Lyon 5-8 novembre 2014 (2014, October)

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See detailGigantism and Acromegaly Due to Xq26 Microduplications and GPR101 Mutation.
Trivellin, Giampaolo; Daly, Adrian ULg; Faucz, Fabio R. et al

in The New England journal of medicine (2014)

Background Increased secretion of growth hormone leads to gigantism in children and acromegaly in adults; the genetic causes of gigantism and acromegaly are poorly understood. Methods We performed ... [more ▼]

Background Increased secretion of growth hormone leads to gigantism in children and acromegaly in adults; the genetic causes of gigantism and acromegaly are poorly understood. Methods We performed clinical and genetic studies of samples obtained from 43 patients with gigantism and then sequenced an implicated gene in samples from 248 patients with acromegaly. Results We observed microduplication on chromosome Xq26.3 in samples from 13 patients with gigantism; of these samples, 4 were obtained from members of two unrelated kindreds, and 9 were from patients with sporadic cases. All the patients had disease onset during early childhood. Of the patients with gigantism who did not carry an Xq26.3 microduplication, none presented before the age of 5 years. Genomic characterization of the Xq26.3 region suggests that the microduplications are generated during chromosome replication and that they contain four protein-coding genes. Only one of these genes, GPR101, which encodes a G-protein-coupled receptor, was overexpressed in patients' pituitary lesions. We identified a recurrent GPR101 mutation (p.E308D) in 11 of 248 patients with acromegaly, with the mutation found mostly in tumors. When the mutation was transfected into rat GH3 cells, it led to increased release of growth hormone and proliferation of growth hormone-producing cells. Conclusions We describe a pediatric disorder (which we have termed X-linked acrogigantism [X-LAG]) that is caused by an Xq26.3 genomic duplication and is characterized by early-onset gigantism resulting from an excess of growth hormone. Duplication of GPR101 probably causes X-LAG. We also found a recurrent mutation in GPR101 in some adults with acromegaly. (Funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development and others.). [less ▲]

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See detailDeletion of exons 1-3 of the MEN1 gene in a large Italian family causes the loss of menin expression.
Zatelli, Maria Chiara; Tagliati, Federico; Di Ruvo, Mauro et al

in Familial cancer (2014)

Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant disease, characterized by parathyroid adenomas, endocrine gastroenteropancreatic tumors and pituitary adenomas, due to ... [more ▼]

Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant disease, characterized by parathyroid adenomas, endocrine gastroenteropancreatic tumors and pituitary adenomas, due to inactivating mutations of the MEN1 gene (chromosome 11q13). MEN1 mutations are mainly represented by nonsense, deletions/insertions, splice site or missense mutations that can be detected by direct sequencing of genomic DNA. However, MEN1 patients with large heterozygous deletions may escape classical genetic screening and may be misidentified as phenocopies, thereby hindering proper clinical surveillance. We employed a real-time polymerase chain reaction application, the TaqMan copy number variation assay, to evaluate a family in which we failed to identify an MEN1 mutation by direct sequencing, despite a clear clinical diagnosis of MEN1 syndrome. Using the TaqMan copy number variation assay we identified a large deletion of the MEN1 gene involving exons 1 and 2, in three affected family members, but not in the other nine family members that were to date clinically unaffected. The same genetic alteration was not found in a group of ten unaffected subjects, without family history of endocrine tumors. The MEN1 deletion was further confirmed by multiplex ligation-dependent probe amplification, which showed the deletion extended from exon 1 to exon 3. This new approach allowed us to correctly genetically diagnose three clinical MEN1 patients that were previously considered as MEN1 phenocopies. More importantly, we excluded the presence of genetic alterations in the unaffected family members. These results underline the importance of using a variety of available biotechnology approaches when pursuing a genetic diagnosis in a clinically suggestive setting of inherited endocrine cancer. [less ▲]

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See detailTwo novel mutations of the CLDN16 gene cause familial hypomagnesaemia with hypercalciuria and nephrocalcinosis
Hanssen, Oriane ULg; CASTERMANS, Emilie ULg; BOVY, Christophe ULg et al

in Clinical Kidney Journal (2014), 7

Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis is an autosomal-recessive disease caused by mutations in the CLDN16 or CLDN19 genes, which encode tight junction-associated proteins ... [more ▼]

Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis is an autosomal-recessive disease caused by mutations in the CLDN16 or CLDN19 genes, which encode tight junction-associated proteins, claudin-16 and -19. The resultant tubulopathy leads to urinary loss of Mg2+ and Ca2+, with subsequent nephrocalcinosis and end-stage renal disease (ESRD). An 18-year-old boy presented with chronic kidney disease and proteinuria, as well as hypomagnesaemia, hypercalciuria and nephrocalcinosis. A kidney biopsy revealed tubular atrophy, interstitial fibrosis and segmental sclerosis of some glomeruli. Two novel mutations in the CLDN16 gene were identified: c.340C>T (nonsense) and c.427+5G>A (splice site). The patient reached ESRD at 23 and benefited from kidney transplantation. [less ▲]

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See detailA giant treated with growth hormone
Rostomyan, Liliya ULg; Potorac, Iulia ULg; CASTERMANS, Emilie ULg et al

in The 3rd ENEA Workshop : Hypopituitarism - Abstract book (2013, December)

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See detailFIPA : étude clinique et génétique à l'Hôpital "King Edward Memorial", Bombay (Mumbai) Inde
Bothra, N; Daly, Adrian ULg; CASTERMANS, Emilie ULg et al

in Annales d'Endocrinologie (2013, October), 74

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