References of "Daly, Adrian"
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See detailA novel mutation of the luteinizing hormone/choionic gonadotrophin receptor gene leading to Leydig cell hypoplasia type I
Potorac, Iulia ULg; Rivero-Müller, A; Pintiaux, Axelle ULg et al

in Symposium "Perspectives in Endocrinology" - 5ème édition (2015, February 07)

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See detailIntérêt du signal T2 des adénomes hypophysaires à GH traités par analogues de la somatostatine - premiers résultats de l'étude IRMA#2
Potorac, Iulia ULg; PETROSSIANS, Patrick ULg; Daly, Adrian ULg et al

in Symposium "Perspectives in Endocrinology" - 5ème édition (2015, February 07)

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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 detailPituitary gigantism : Causes and clinical characteristics
Rostomyan, Liliya ULg; Daly, Adrian ULg; Beckers, Albert ULg

in Annales d'Endocrinologie (2015), 76

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See detailX-Linked acro-gigantism (X-LAG) syndrome : two new cases with long-term follow-up
Daly, Adrian ULg; Cuny, T; Rabl, w et al

in Abstract book - 4th ENEA Workshop topic : acromegaly (2015)

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See detailFamilial Isolated pituitary adenomas (FIPA) and mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene
Daly, Adrian ULg; Beckers, Albert ULg

in Endocrinology & Metabolism Clinics of North America (2015), 44

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See detailVIEUX PHENOTYPE ET NOUVEAUX GENOTYPES Actualités dans le domaine des adénomes hypophysaires
GERARD, Caroline ULg; JEDIDI, Haroun ULg; PETROSSIANS, Patrick ULg et al

in Revue Médicale de Liège (2015), 70(11), 569-574

Gigantism and acromegaly, usually caused by a pituitary adenoma linked innapropriate secretion of growth hormon (GH) are generally considered as very rare diseases, even if, regarding some authors, their ... [more ▼]

Gigantism and acromegaly, usually caused by a pituitary adenoma linked innapropriate secretion of growth hormon (GH) are generally considered as very rare diseases, even if, regarding some authors, their cumulative prevalence is about 1/5000. Starting from the historical case of a giant from Liège we will describe the different types of GH pituitary adenomas and their physiopathology. We will overall discuss rare forms of inherited GH secreting pituitary adenomas like the FIPA (familial inherited isolated pituitary adenomas) and the X-LAG (X linked acrogigantism), both described in Liège, respectively in 2000 and 2014. [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 detailFunctioning Pituitary Adenomas
Beckers, Albert ULg; Rostomyan, Liliya ULg; Daly, Adrian ULg

in Genetic Diagnosis of Endocrine Disorders (2015)

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See detailA novel inactivating mutation of the LH/chorionic gonadotrophin receptor with impaired membrane trafficking leading to Leydig cell hypoplasia type 1.
Rivero-Muller, Adolfo; Potorac, Iulia ULg; Pintiaux, Axelle ULg et al

in European journal of endocrinology / European Federation of Endocrine Societies (2015), 172(6), 27-36

OBJECTIVE: The LH/chorionic gonadotrophin receptor (LHCGR) is a G protein-coupled receptor (GPCR) that plays a central role in male sexual differentiation, regulation of ovarian follicular maturation ... [more ▼]

OBJECTIVE: The LH/chorionic gonadotrophin receptor (LHCGR) is a G protein-coupled receptor (GPCR) that plays a central role in male sexual differentiation, regulation of ovarian follicular maturation, ovulation and maintenance of corpus luteum and pregnancy, as well as maintenance of testicular testosterone production. Mutations in the LHCGR gene are very rare. The aim of this work was to study the clinical and molecular characteristics of a rare familial LHCGR mutation. METHODS: Five affected members of a family, including a phenotypically female, but genotypically male (46,XY), patient with Leydig cell hypoplasia type 1 and four genotypically female siblings with reproductive abnormalities, were studied genetically. Cell trafficking studies as well as signalling studies of mutated receptor were performed. RESULTS: The five affected patients were all homozygous for a novel mutation in the LHCGR gene, a deletion of guanine in position 1850 (1850delG). This resulted in a frameshift affecting most of the C-terminal intracellular domain. In vitro studies demonstrated that the 1850delG receptor was completely incapable of transit to the cell membrane, becoming trapped within the endoplasmic reticulum. This could not be rescued by small-molecule agonist treatment or stimulated intracellularly by co-expression of a yoked human chorionic gonadotrophin. CONCLUSIONS: This novel LHCGR mutation leads to complete inactivation of the LHCGR receptor due to trafficking and signalling abnormalities, which improves our understanding of the impact of the affected structural domain on receptor trafficking and function. [less ▲]

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See detailPituitary MRI characteristics in 297 acromegaly patients based on T2-weighted sequences.
Potorac, Iulia ULg; PETROSSIANS, Patrick ULg; Daly, Adrian ULg et al

in Endocrine-related cancer (2015)

Context: Responses of GH-secreting adenomas to multimodal management of acromegaly varies widely between patients. Understanding the behavioral patterns of GH-secreting adenomas by identifying predictive ... [more ▼]

Context: Responses of GH-secreting adenomas to multimodal management of acromegaly varies widely between patients. Understanding the behavioral patterns of GH-secreting adenomas by identifying predictive factors of their evolution is a research priority. Objective: To clarify the relationship between adenoma T2-weighted signal on diagnostic MRI in acromegaly and clinical and biological features at diagnosis. Design: International, multicenter, retrospective analysis. Setting: 10 endocrine tertiary referral centers. Patients: 297 acromegalic recently diagnosed patients with available diagnostic MRI evaluations were included in the study. Main outcome measure: Clinical, biochemical characteristics and MRI signal findings. Results: T2-hypointense adenomas represented 52.9% of the series, were smaller than their T2-hyper- and isointense counterparts (p<0.0001), were associated with higher IGF1 levels (p=0.0001), invaded the cavernous sinus less frequently (p=0.0002) and rarely caused optic chiasm compression (p<0.0001). Acromegalic men tended to be younger at diagnosis than women (p=0.067) and presented higher IGF1 values (p=0.01). Although in total, adenomas had a predominantly inferior extension in 45.8% of cases, in men this was more frequent (p<0.0001), whereas in women optic chiasm compression of macroadenomas occurred more often (p=0.0067). Most adenomas (45.1%) measured between 11-20mm in maximal diameter and bigger adenomas were diagnosed at younger ages (p=0.0001). Conclusions: T2-weighted signal differentiates GH-secreting adenomas into subgroups with particular behaviors. This raises the question of whether T2-weighted signal could represent a factor in the classification of acromegalic patients in future studies. [less ▲]

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See detailA novel mutation of the luteinizing hormone/choionic gonadotrophin receptor gene leading to Leydig cell hypoplasia type I
Potorac, Iulia ULg; Rivero-Müller, Adolfo; Pintiaux, Axelle ULg et al

in Abstract book - 24th Meeting of the Belgian Endocrine Society (2014, October 18)

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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 detailIntérêt du signal T2 des adénomes hypophysaires à GH traités par analogues de la somatostatine - premiers résultats de l'étude IRMA#2
Potorac, Iulia ULg; PETROSSIANS, Patrick ULg; Daly, Adrian ULg et al

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

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See detailPituitary gland in MEN1 syndrome : from histopathology to prognosis
Villa, C; Bernier, M; Gaillard, S et al

in Abstract book - 14th International Workshop on Multiple Endocrine Neoplasia and other rare endocrine tumors (2014, September)

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See detailMcCune-Albright Syndrome: A Detailed Pathological And Genetic Analysis of Disease Effects in an Adult Patient.
Vasilev, Vladimir; Daly, Adrian ULg; THIRY, Albert ULg et al

in The Journal of clinical endocrinology and metabolism (2014)

Context: McCune Albright syndrome (MAS) is a clinical association of endocrine and non-endocrine anomalies caused by post-zygotic mutation of the GNAS1 gene, leading to somatic activation of the ... [more ▼]

Context: McCune Albright syndrome (MAS) is a clinical association of endocrine and non-endocrine anomalies caused by post-zygotic mutation of the GNAS1 gene, leading to somatic activation of the stimulatory alpha subunit of G protein (Gsalpha). Important advances have been made recently in describing pathological characteristics of many MAS-affected tissues, particularly pituitary, testicular and adrenal disease. Other rarer disease related features are emerging. Objective: To study pathological and genetic findings of MAS on a tissue-by-tissue basis in classically and non classically affected tissues. Design: A comprehensive autopsy and genetic analysis Setting: Tertiary referral University Hospital Patients: Adult male patient with MAS and severe disease burden including gigantism Intervention(s): Clinical, hormonal and radiographic studies; gross and microscopic pathology analyses, conventional PCR and droplet digital PCR analyses of affected and non affected tissues Main Outcome Measure: Pathological findings, presence of GNAS1 mutations Results: The patient was diagnosed with MAS syndrome at six years of age based on the association of cafe-au-lait spots and radiological signs of polyostotic fibrous dysplasia. Gigantism developed and hyperprolactinemia, hypogonadotropic hypogonadism and hyperparathyroidism were diagnosed throughout adult period. The patient died at the age of 39 from pulmonary embolism. A detailed study revealed mosaiscism for the p.R201C GNAS mutation distributed across many endocrine and non-endocrine tissues. These genetically implicated tissues included rare or previously undescribed disease associations including primary hyperparathyroidism, and hyperplasia of the thymus and endocrine pancreas. Conclusions: This comprehensive pathological study of a single patient highlights the complex clinical profile of MAS and illustrates important advances in understanding the characteristics of somatic GNAS1 related pathology across a wide range of affected organs. [less ▲]

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See detailThe Third/Second Generation PTH Assay Ratio as a Marker for Parathyroid Carcinoma: Evaluation Using an Automated Platform
CAVALIER, Etienne ULg; BETEA, Daniela ULg; SCHLECK, Marie-Louise ULg et al

in Journal of Clinical Endocrinology and Metabolism (2014), 99(3), 453-7

Background: Parathyroid carcinoma (PCa) is rare and often difficult to differentiate initially from benign disease. Because PCa oversecretes amino PTH that is detected by third-generation but not by ... [more ▼]

Background: Parathyroid carcinoma (PCa) is rare and often difficult to differentiate initially from benign disease. Because PCa oversecretes amino PTH that is detected by third-generation but not by second-generation PTH assays, the normal generation PTH ( 1) is inverted in PCa (ie, 1). Objective: The objective of the investigation was to study the utility and advantages of automated generation PTH ratio measurements using the Liaison XL platform over existing manual techniques. Setting: The study was conducted at a tertiary-referral academic center. Design: This was a retrospective laboratory study. Subjects: Eleven patients with advanced PCa (mean age 56.0 y). The controls were patients with 1°-hyperparathyroidism (n 144;meanage 53.8 y), renal transplantation (n 41;meanage 50.6 y), hemodialysis (n 80; mean age 65.2 y), and healthy elderly subjects (n 40; mean age 72.6 y). Results: The median (interquartile range) generation PTH ratio was 1.16 (1.10 –1.38) in the PCa group, which was significantly higher than the control groups: 0.74 (hemodialysis, 0.71–0.75), 0.77 (renal transplant, 0.73–0.79), 0.80 (healthy elderly, 0.74–0.83), and 0.76 (1°-hyperparathyroidism, 0.74–0.78). An inverted -generation PTH ratio ( 1) was seen in 9 of 11 PCa patients (81.8%) and in 7 of 305 controls (2.3%), 3 of 80 hemodialysis (3.8%), and 4 of 144 1°-hyperparathyroidism patients (2.8%). Of four PCa patients who had a normal PTH ratio with the manual method, two had an inverted -generation PTH ratio with the automated method. Conclusions: Study of the -generation PTH ratio in large patient populations should be feasible using a mainstream automated platform like the Liaison XL. The current study confirms the utility of the inverted -generation PTH ratio as a marker of PCa (sensitivity: 81.8%; specificity: 97.3%). [less ▲]

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

in Abstract book - Symposium "Perspectives in Endocrinology" Congresses Highlights 2013:ECE Copenhagen, ENDO SF, SFE Paris (2014, February)

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