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See detailAggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome.
Naves, Luciana A.; Daly, Adrian Francis ULiege; Dias, Luiz Augusto et al

in Endocrine (2016)

X-linked acro-gigantism (X-LAG) syndrome is a newly described disease caused by microduplications on chromosome Xq26.3 leading to copy number gain of GPR101. We describe the clinical progress of a ... [more ▼]

X-linked acro-gigantism (X-LAG) syndrome is a newly described disease caused by microduplications on chromosome Xq26.3 leading to copy number gain of GPR101. We describe the clinical progress of a sporadic male X-LAG syndrome patient with an Xq26.3 microduplication, highlighting the aggressive natural history of pituitary tumor growth in the absence of treatment. The patient first presented elsewhere aged 5 years 8 months with a history of excessive growth for >2 years. His height was 163 cm, his weight was 36 kg, and he had markedly elevated GH and IGF-1. MRI showed a non-invasive sellar mass measuring 32.5 x 23.9 x 29.1 mm. Treatment was declined and the family was lost to follow-up. At the age of 10 years and 7 months, he presented again with headaches, seizures, and visual disturbance. His height had increased to 197 cm. MRI showed an invasive mass measuring 56.2 x 58.1 x 45.0 mm, with compression of optic chiasma, bilateral cavernous sinus invasion, and hydrocephalus. His thyrotrope, corticotrope, and gonadotrope axes were deficient. Surgery, somatostatin analogs, and cabergoline did not control vertical growth and pegvisomant was added, although vertical growth continues (currently 207 cm at 11 years 7 months of age). X-LAG syndrome is a new genomic disorder in which early-onset pituitary tumorigenesis can lead to marked overgrowth and gigantism. This case illustrates the aggressive nature of tumor evolution and the challenging clinical management in X-LAG syndrome. [less ▲]

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See detailA vital region for human glycoprotein hormone trafficking revealed by an LHB mutation.
Potorac, Iulia ULiege; Rivero-Muller, Adolfo; Trehan, Ashutosh et al

in Journal of Endocrinology (2016), 231(3), 197-207

Glycoprotein hormones are complex hormonally active macromolecules. Luteinizing hormone (LH) is essential for the postnatal development and maturation of the male gonad. Inactivating LHB gene mutations ... [more ▼]

Glycoprotein hormones are complex hormonally active macromolecules. Luteinizing hormone (LH) is essential for the postnatal development and maturation of the male gonad. Inactivating LHB gene mutations are exceptionally rare and lead to hypogonadism that is particularly severe in males. We describe a family with selective LH deficiency and hypogonadism in two brothers. DNA sequencing of LHB was performed and the effects of genetic variants on hormone function and secretion were characterized by mutagenesis studies, confocal microscopy and functional assays. A 20-year-old male from a consanguineous family had pubertal delay, hypogonadism and undetectable LH. A homozygous c.118_120del (p.Lys40del) mutation was identified in the patient and his brother, who subsequently had the same phenotype. Treatment with hCG led to pubertal development, increased circulating testosterone and spermatogenesis. Experiments in HEK293 cells revealed that the mutant LH is retained intracellularly and showed diffuse cytoplasmic distribution. The mutated LHB heterodimerizes with the common alpha subunit and can activate its receptor. Deletion of flanking glutamic acid residues at positions 39 and 41 impair LH to a similar extent as deletion of Lys40. This region is functionally important across all heterodimeric glycoprotein hormones, because deletion of the corresponding residues in hCG, follicle-stimulating hormone and thyroid-stimulating hormone beta-subunits also led to intracellular hormone retention. This novel LHB mutation results in hypogonadism due to intracellular sequestration of the hormone and reveals a discrete region in the protein that is crucial for normal secretion of all human glycoprotein hormones. [less ▲]

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See detailScreening for genetic causes of growth hormone hypersecretion.
Rostomyan, Liliya ULiege; Beckers, Albert ULiege

in Growth Hormone & IGF Research : Official Journal of the Growth Hormone Research Society and the International IGF Research Society (2016)

Growth hormone (GH) secreting pituitary tumors may be caused by genetic abnormalities in a variety of genes including AIP, MEN1, CDKN1B, and PRKAR1A. These can lead to GH secreting pituitary adenomas as ... [more ▼]

Growth hormone (GH) secreting pituitary tumors may be caused by genetic abnormalities in a variety of genes including AIP, MEN1, CDKN1B, and PRKAR1A. These can lead to GH secreting pituitary adenomas as an isolated occurrence (e.g. as aggressive sporadic adenomas or in familial isolated pituitary adenomas (FIPA)) or as part of syndromic conditions such as MEN1 or Carney complex. These tumors have more aggressive features than sporadic acromegaly, including a younger age at disease onset and larger tumor size, and they can be challenging to manage. In addition to mutations or deletions, copy number variation at the GPR101 locus may also lead to mixed GH and prolactin secreting pituitary adenomas in the setting of X-linked acrogigantism (X-LAG syndrome). In X-LAG syndrome and in McCune Albright syndrome, mosaicism for GPR101 duplications and activating GNAS1 mutations, respectively, contribute to the genetic pathogenesis. As only 5% of pituitary adenomas have a known cause, efficient deployment of genetic testing requires detailed knowledge of clinical characteristics and potential associated syndromic features in the patient and their family. [less ▲]

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See detailCancer thyroïdien familial non médullaire : actualités cliniques et génétiques
VALDES SOCIN, Hernan Gonzalo ULiege; Gonon Rodrigues Palmeira, Leonor ULiege; Burlacu, MC et al

in Revue Médicale de Liège (2016), 71(12), 557-561

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See detailLe syndrome thyro-gastrique auto-immun : actualités cliniques et thérapeutiques
VALDES SOCIN, Hernan Gonzalo ULiege; SID, Sélim ULiege; LUTTERI, Laurence ULiege et al

in Vaisseaux, Coeur, Poumons (2016), 21(4), 40-45

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See detailFamilial thyrogastric autoimmune syndrome : a study of 22 kindreds
Sid, Sélim ULiege; LUTTERI, Laurence ULiege; BEGUIN, Yves ULiege et al

in Abstract book - 20th Annual Congress of the Belgian Society of Internal Medicine (2015, December)

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See detailSwitch from Hashimoto Thyroiditis (HT) to Graves Basedow (GB) disease : a controlled study in a series of 15 patients
Maiga, I; BETEA, Daniela ULiege; Geenen, Vincent ULiege et al

in Abstract book - 20th Annual Congress of the Belgian Society of Internal Medicine (2015, December)

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See detailThe gigantism
Beckers, Albert ULiege

Scientific conference (2015, November)

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See detailHow T2-weighted signal intensity of GH-secreting adenomas correlates wit response to primary somatostatin analogue therapy in acromegaly
Potorac, Iulia ULiege; PETROSSIANS, Patrick ULiege; Daly, Adrian ULiege et al

in Abstract book - 25th meeting of the Belgian Endocrine Society (2015, October)

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See detailSyndrome thyrogastrique autoimmun (STGA) : la gastrite auto-immune isolée (GAI) et celle associée à Helicobacter (Hp) ont des caractéristiques anatomocliniques différentes
VALDES SOCIN, Hernan Gonzalo ULiege; MESUREUR, Thierry ULiege; POLUS, Marc ULiege et al

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

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

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

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See detailNouvelle mutation du Fibroblast Growth Factor Receptor 1 (FGFR1)-cause d'hypogonadisme hypogonadotrope idiopathique normosmique
Potorac, Iulia ULiege; Chachati, Anne-Sophie ULiege; Debray, François-Guillaume ULiege et al

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

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See detailUne lésion sellaire d'évolution hautement fluctuante
BETEA, Daniela ULiege; Potorac, Iulia ULiege; BONNEVILLE, Jean-François ULiege et al

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

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See detailHypogonadisme hypogonadotrope normosmique familial : identification d'une nouvelle mutation c.1664-2A> T du gène FGFR1
VALDES SOCIN, Hernan Gonzalo ULiege; Pintiaux, Axelle ULiege; LIBIOULLE, Cécile ULiege et al

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

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See detailHyperthyroïdie sur maladie de Basedow survenant après une hypothyroïdie de Hashimoto : étude clinique et biologique sur 10 cas
Maiga, Ibrahima ULiege; BETEA, Daniela ULiege; Beckers, Albert ULiege et al

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

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See detailNew genetic cause of gigantism and FIPA
Rostomyan, Liliya ULiege; Daly, Adrian ULiege; Trivellin, G et al

in Abstract book - 25th meeting of the Belgian Endocrine Society (2015, October)

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See detailL'étiologie, la génétique de l'acromégalie
Beckers, Albert ULiege

Scientific conference (2015, October)

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See detailNew Genetic cause of gigantism
Rostomyan, Liliya ULiege; Beckers, Albert ULiege

Scientific conference (2015, October)

Detailed reference viewed: 27 (5 ULiège)