References of "BECKERS, Albert"
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See detailAdvances in diagnosis and management of familial pituitary adenomas
JEDIDI, Haroun ULg; ROSTOMYAN, Lilith; POTORAC, Iulia et al

in International Journal of Endocrine Oncology (in press)

Familial pituitary adenomas accounts for approximately 5-8 % of all pituitary adenomas. Besides the adenomas occurring as part of syndromic entities that bring together several endocrine or other systems ... [more ▼]

Familial pituitary adenomas accounts for approximately 5-8 % of all pituitary adenomas. Besides the adenomas occurring as part of syndromic entities that bring together several endocrine or other systems disorders, 2-3% of the familial pituitary adenomas fit into the familial isolated pituitary adenomas (FIPA) syndrome. 20% of FIPA syndromes have shown mutations in the AIP gene and have distinct clinical characteristics. Recent findings have isolated a new non-AIP FIPA syndrome called X-LAG, resulting from duplication in GPR-101 gene. These new advances in the field of pituitary disease are opening up a new challenging domain to both clinician and researcher. This review will focus on these last findings and their contribution to the diagnosis and the management of familial pituitary adenomas. [less ▲]

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See detailLe phénotype d’Akhenaton ; revue critique entre canons artistiques et expression pathologique.
JEDIDI, Zayd ULg; JEDIDI, Haroun ULg; LAVEAUX, Elisabeth ULg et al

in Revue Médicale de Liège (in press)

Of all the royal families of ancient or modern fame, few are as iconic as the eighteenth dynasty of pharaohs of the New Kingdom of Egypt, whose opulence and deeds we are still familiar to nearly 3,500 ... [more ▼]

Of all the royal families of ancient or modern fame, few are as iconic as the eighteenth dynasty of pharaohs of the New Kingdom of Egypt, whose opulence and deeds we are still familiar to nearly 3,500 years after their time. Tenth pharaoh of this dynasty and father of Tutankhamun, Akhenaten (Amenhotep/Amenhotep IV) still fascinates Egyptologists and history lovers through the many questions surrounding his atypical rule. One of the most striking aspects of the so-called Amarna period concerns the representations of the pharaoh himself, very confusing compared to the traditional iconography of the New Kingdom. These intriguing portraits of Pharaoh raised a whole lot of medical assumptions, more or less substantiated. We review here the main theories developed throughout history. [less ▲]

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See detailCharacterization of GPR101 transcripts structure and expression patterns
Trivellin, Giampaolo; Ivana, Bjelobaba; Daly, Adrian ULg et al

in Journal of Molecular Endocrinology (2016)

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See detailPrise en charge thérapeutique des acromégalies génétiquement déterminées
Beckers, Albert ULg

Scientific conference (2016, May 20)

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See detailGenetic predisposition to breast cancer occurring in a male-to-female transsexual patient
Potorac, Iulia ULg; CORMAN, Vinciane ULg; Manto, Florence et al

Poster (2016, May)

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See detailBeyond the Adenoma Valley : from FIPA to gigantism and back
Beckers, Albert ULg

Scientific conference (2016, May)

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See detailMANAGEMENT OF ENDOCRINE DISEASE: Pituitary "incidentaloma": Neuroradiological assessment and differential diagnosis.
Vasilev, Vladimir; Rostomyan, Liliya ULg; Daly, Adrian ULg et al

in European Journal of Endocrinology (2016), 175(4), 171184

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See detailSomatic mosaicism underlies X-linked acrogigantism (XLAG) syndrome in sporadic male subjects
Daly, Adrian ULg; Yuan, Bo; Fina, Frederic et al

in Endocrine-Related Cancer (2016)

Somatic mosaicism has been implicated as a causative mechanism in a number of genetic and genomic disorders. X-linked acrogigantism (XLAG) syndrome is a recently characterized genomic form of pediatric ... [more ▼]

Somatic mosaicism has been implicated as a causative mechanism in a number of genetic and genomic disorders. X-linked acrogigantism (XLAG) syndrome is a recently characterized genomic form of pediatric gigantism due to aggressive pituitary tumors that is caused by submicroscopic chromosome Xq26.3 duplications that include GPR101. We studied XLAG syndrome patients (N=18) to determine if somatic mosaicism contributed to the genomic pathophysiology. Eighteen subjects with XLAG syndrome were identified with Xq26.3 duplications using high definition array comparative genome hybridization (HD-aCGH). We noted males with XLAG had a decreased log2 ratio compared with expected values, suggesting potential mosaicism, while females showed no such decrease. As compared with familial male XLAG cases, sporadic males had more marked evidence for mosaicism, with levels of Xq26.3 duplication between 16.1-53.8%. These characteristics were replicated using a novel, personalized breakpoint-junction specific quantification droplet digital PCR (ddPCR) technique. Using a separate ddPCR technique we studied the feasibility of identifying XLAG syndrome cases in a distinct patient population of 64 unrelated subjects with acromegaly/gigantism and identified one female gigantism patient that had increased copy number variation (CNV) threshold for GPR101 that was subsequently diagnosed as having XLAG syndrome on HD-aCGH. Employing a combination of HD-aCGH and novel ddPCR approaches, we have demonstrated that XLAG syndrome can be caused by variable degrees of somatic mosaicism for duplications at chromosome Xq26.3. Somatic mosaicism was shown to occur in sporadic males but not in females with XLAG syndrome, although the clinical characteristics of the disease were similarly severe in both sexes. [less ▲]

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See detailNovel composite heterozygous mutation of the receptor for hCG and LH leading to male disorder of sexual development
Potorac, Iulia ULg; FUDVOYE, Julie ULg; GAILLEZ, Stephanie ULg et al

in Abstract book - 17th World Congress of Gynecological Endocrinology (2016, March)

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See detailDouble genetic defect in a case of congenital hypogonadotropic hypogonadism
Potorac, Iulia ULg; Pintiaux, Axelle ULg; VALDES SOCIN, Hernan Gonzalo ULg et al

in Abstract book - 17th World Congress of Gynecological Endocrinology (2016, March)

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See detailCharacterization of GPR101 transcripts structure, expression and signaling
Trivellin, G; Bjelobaba, I; Daly, Adrian ULg et al

in Abstract book - Keystone Symposia on GPCRs (2016, February)

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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 detailGenetic pituitary tumors - clinical
Beckers, Albert ULg

in 15th International Workshop on Multiple Endocrine Neoplasia and other rare endocrine tumors - Abstract book (2016)

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See detailBreast cancer in a male to female transsexual patient with a BRCA2 mutation
CORMAN, Vinciane ULg; Potorac, Iulia ULg; Manto, Florence ULg et al

in Endocrine-Related Cancer (2016), 23(5), 391-397

Breast cancer is rare in male patients. Certain predisposing factors, be they genetic (e.g., BRCA2 gene mutations) or hormonal (imbalance between estrogen and androgen levels), have been implicated in ... [more ▼]

Breast cancer is rare in male patients. Certain predisposing factors, be they genetic (e.g., BRCA2 gene mutations) or hormonal (imbalance between estrogen and androgen levels), have been implicated in male breast cancer pathophysiology. Male-to-female (MtF) transsexualism is a condition that generally involves cross-sex hormone therapy. Anti-androgens and estrogens are used to mimic the female hormonal environment and induce the cross-sex secondary characteristics. In certain situations, the change in the hormonal milieu can be disadvantageous and favor the development of hormonedependent pathologies, such as cancer. We report a case of a MtF transgender patient who developed breast cancer after 7 years of cross-sex hormonal therapy. The patient was found to be BRCA2 positive, and suffered recurrent disease. The patient was unaware of being a member of an established BRCA2 mutation-positive kindred. This represents the first case of a BRCA2 mutation predisposing to breast cancer in a MtF transgender patient. [less ▲]

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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 (2016)

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 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 detailScreening for GPR101 defects in pediatric pituitary corticotropinomas.
Trivellin, Giampaolo; Correa, Ricardo R.; Batsis, Maria et al

in Endocrine-related cancer (2016), 23(5), 357-365

Cushing disease (CD) in children is caused by adrenocorticotropic hormone (ACTH)-secreting pituitary adenomas. Germline or somatic mutations in genes such as MEN1, CDKIs, AIP, and USP8 have been ... [more ▼]

Cushing disease (CD) in children is caused by adrenocorticotropic hormone (ACTH)-secreting pituitary adenomas. Germline or somatic mutations in genes such as MEN1, CDKIs, AIP, and USP8 have been identified in pediatric CD, but the genetic defects in a significant percentage of cases are still unknown. We investigated the orphan G protein-coupled receptor GPR101, a gene known to be involved in somatotropinomas, for its possible involvement in corticotropinomas. We performed GPR101 sequencing, expression analyses by RT-qPCR and immunostaining, and functional studies (cell proliferation, pituitary hormones secretion, and cAMP measurement) in a series of patients with sporadic CD secondary to ACTH-secreting adenomas in whom we had peripheral and tumor DNA (N=36). No increased GPR101 expression was observed in tumors compared to normal pituitary (NP) tissues, nor did we find a correlation between GPR101 and ACTH expression levels. Sequence analysis revealed a very rare germline heterozygous GPR101 variant (p.G31S) in one patient with CD. Overexpression of the p.G31S variant did not lead to increased growth and proliferation, although modest effects on cAMP signaling were seen. GPR101 is not overexpressed in ACTH-secreting tumors compared to NPs. A rare germline GPR101 variant was found in one patient with CD but in vitro studies did not support a consistent pathogenic effect. GPR101 is unlikely to be involved in the pathogenesis of CD. [less ▲]

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