References of "Annales d'Endocrinologie"
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See detailAdipsic diabetes insipidus revealing a bifocal intracranial germinoma
KREUTZ, Julie ULg; Potorac, Iulia ULg; LUTTERI, Laurence ULg et al

in Annales d'Endocrinologie (2017)

Abstract Adipsic diabetes insipidus is a rare complication of intracranial tumors in which impaired antidiuretic hormone secretion is associated with the loss of thirst sensation. Here, we present the ... [more ▼]

Abstract Adipsic diabetes insipidus is a rare complication of intracranial tumors in which impaired antidiuretic hormone secretion is associated with the loss of thirst sensation. Here, we present the case of a patient with bifocal intracranial germinoma, diagnosed due to symptoms mainly caused by adipsic diabetes insipidus. This is, to our knowledge, the first case of adipsic diabetes insipidus revealing an intracranial germinoma reported in the literature. We describe the diagnostic procedures and the three-year follow-up of this patient. Management of intracranial germ-cell tumors is made complex by the wide range of histological features. Although germinomas have a generally better prognosis than most nongerminomatous tumors, they can have severe or even life-threatening presentations. Adipsic diabetes insipidus is one such severe presentation and its rarity can make it difficult to recognize and manage. Awareness of this potential entity is therefore important for clinical practice. Le diabète insipide adipsique est une des rares complications des tumeurs intracrâniennes. Il associe une baisse de la sécrétion d’hormone antidiurétique à une perte de la sensation de soif et ilsignale souvent la présence d’une lésion qui atteint ou envahit l’hypothalamus. Nous présentons le cas d’une patiente avec un germinome intracrânien bifocal diagnostiqué devant un tableau de diabète insipide adipsique. À notre connaissance, il s’agit du premier cas de la littérature d’un diabète insipide révélant un germinome intracrânien. La prise en charge des tumeurs germinales intracrâniennes est complexe du fait des phénotypes histologiques divers. Bien que les germinomes ont généralement un meilleur pronostic que les tumeurs non-germinomateuses, ils peuvent avoir des présentations sévères. Le diabète insipide adipsique est une de ces présentations sévères et sa rareté peut rendre son diagnostic et sa prise en charge difficiles. La reconnaissance de cette entité potentielle est, dès lors, importante pour la pratique clinique [less ▲]

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See detailAIP mutations and gigantism
Rostomyan, Liliya ULg; Potorac, Iulia ULg; BECKERS, Pablo ULg et al

in Annales d'Endocrinologie (2017)

AIP mutations are rare in sporadic acromegaly but they are seen at a higher frequency among certain specific populations of pituitary adenoma patients (pituitary gigantism cases, familial isolated ... [more ▼]

AIP mutations are rare in sporadic acromegaly but they are seen at a higher frequency among certain specific populations of pituitary adenoma patients (pituitary gigantism cases, familial isolated pituitary adenoma (FIPA) kindreds, and patients with macroadenomas who are diagnosed ≤ 30 years). AIP mutations are most prevalent in patients with pituitary gigantism (29% of this group were found to have mutations in AIP gene). These data support targeted genetic screening for AIP mutations/deletions in these groups of pituitary adenoma patients. Earlier diagnosis of AIP-related acromegaly-gigantism cases enables timely clinical evaluation and treatment, thereby improving outcomes in terms of excessive linear growth and acromegaly comorbidities. Bien que les mutations du gène AIP soient rares dans les cas d’acromégalie sporadique, l’importance de ces mutations est établie dans des populations spécifiques de patients telles que les patients qui souffrent de familial isolated pituitary adenomas (FIPA), de gigantisme ou qui présentent un macroadénome hypophysaire avant l’âge de 30 ans. C’est dans le gigantisme qu’elles sont le plus fréquemment retrouvées (29 % des géants présentent une mutation de ce gène). Dans ces populations, nos données suggèrent qu’il est utile de réaliser un screening ciblé pour les mutations ou délétions du gène AIP. La reconnaissance précoce des cas d’acromégalie et de gigantisme permet une évaluation clinique et un traitement appropriés de ces patients. Elle contribue à améliorer les résultats des traitements tant en terme de croissance excessive qu’en ce qui concerne les comorbidités liées à l’acromégalie. [less ▲]

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See detailFrom the shortest to the tallest
Beckers, Albert ULg

in Annales d'Endocrinologie (2017), 78

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See detailX-LAG: How did they grow so tall?
BECKERS, Albert ULg; Rostomyan, Liliya ULg; Potorac, Iulia ULg et al

in Annales d'Endocrinologie (2017)

X-linked acrogigantism (XLAG) is a new, pediatric-onset genetic syndrome, due to Xq26.3 microduplications encompassing the GPR101 gene. XLAG has a remarkably distinct phenotype with disease onset ... [more ▼]

X-linked acrogigantism (XLAG) is a new, pediatric-onset genetic syndrome, due to Xq26.3 microduplications encompassing the GPR101 gene. XLAG has a remarkably distinct phenotype with disease onset occurring before the age of 5 in all cases described to date, which is significantly younger than in other forms of pituitary gigantism. These patients have mixed GH and prolactin positive adenomas and/or mixed-cell hyperplasia and highly elevated levels of GH/IGF-1 and prolactin. Given their particularly young age of onset, the significant GH hypersecretion can lead to a phenotype of severe gigantism with very advanced age-specific height Z-scores. If not adequately treated in childhood, this condition results in extreme final adult height. XLAG has a clinical course that is highly similar to some of the tallest people with gigantism in history. « X-linked acrogigantism » (XLAG) est un syndrome pédiatrique récemment décrit, lié à des microduplications du chromosome Xq26.3, englobant le gène GPR101, responsable de l’affection. Les patients XLAG présentent un phénotype remarquablement distinct des autres cas de gigantisme hypophysaire. Dans tous les cas décrits, la maladie s’exprime avant 5 ans soit beaucoup plus tôt que dans les autres formes. Les patients ont habituellement un gros adénome ou une hyperplasie mixte pour la GH et la prolactine et des taux très élevés de GH/IGF1 et prolactine. En raison de son début très précoce, l’hypersécrétion importante de GH peut conduire à un gigantisme extrêmement sévère avec un Z-score très important pour l’âge. Si cette condition n’est pas traitée pendant l’enfance, elle peut conduire à une taille finale extrême. XLAG montre une évolution clinique similaire à celle observée chez les géants les plus grands de l’histoire. [less ▲]

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See detailProblems with the PTH assays
CAVALIER, Etienne ULg; DELANAYE, Pierre ULg; Nyssen, Laurent ULg et al

in Annales d'Endocrinologie (2015), 76(2), 128-133

Even if the first assay for parathyroid hormone (PTH) was published in the early 1960s, its determination remains a challenge even today. Indeed, in the circulation, PTH is present in its active form (PTH ... [more ▼]

Even if the first assay for parathyroid hormone (PTH) was published in the early 1960s, its determination remains a challenge even today. Indeed, in the circulation, PTH is present in its active form (PTH 1-84), but many PTH fragments can also be present. These fragments accumulate when renal function declines and are recognized, at different extents, by the 2nd generation ("intact") PTH assays that are widely used in the clinical laboratories. Some assays, called "3rd generation PTH" do not recognize these fragments, but are not available everywhere. Hence, different problems are also linked with PTH determination. Among them, one can cite the lack of a reference method, the lack of standardization of the assays and, sometimes, the lack of consistent reference range. We can also point out stability problems and a large intra-individual variation. A workgroup is working on these problems under the auspices of the IFCC and we hope that some of these problems will be resolved in the next years. In this article, we will discuss all the possible issues of PTH determination. [less ▲]

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See detailParathyroid carcinoma : Challenges in diagnosis and treatment
BETEA, Daniela ULg; Potorac, Iulia ULg; Beckers, Albert ULg

in Annales d'Endocrinologie (2015), 76

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See detailHow to manage an isolated elevated PTH?
Souberbielle, Jean-Claude; CAVALIER, Etienne ULg; Cormier, Catherine

in Annales d'Endocrinologie (2015), 76(2), 134-141

The aim of this article is to discuss the diagnostic approach of an increased serum PTH concentration in a normocalcemic, normophosphatemicpatient. Detection of this biological presentation is frequent in ... [more ▼]

The aim of this article is to discuss the diagnostic approach of an increased serum PTH concentration in a normocalcemic, normophosphatemicpatient. Detection of this biological presentation is frequent in routine practice all the more that PTH reference values established in vitamin Dreplete subjects with a normal renal function are used by the clinical laboratories. The first step in this diagnostic approach will be to rule out acause of secondary hyperparathyroidism (SHPT). Among these, the most frequent are vitamin D deficiency, very low calcium intake, impairedrenal function, malabsorptions, drugs interfering with calcium/bone metabolism, such as lithium salts and antiresorptive osteoporosis therapies,hypercalciuria due to a renal calcium leak. If no cause of SHPT are evidenced, the diagnosis of normocalcemic primary hyperparathyroidism(PHPT) should be considered. A calcium load test is a very useful tool for this diagnosis if it shows that serum PTH is not sufficiently decreasedwhen calcemia rises frankly above the upper normal limit. In a normocalcemic patient with hypercalciuria and a high serum PTH concentration,a thiazide challenge test may help to differentiate SHPT due to a renal calcium leak from normocalcemic PHPT. Beyond the discussion of thisdiagnostic [less ▲]

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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 detailEvaluation of circulating irisin levels in healthy young individuals after a single 100,000 IU vitamin D dose
CAVALIER, Etienne ULg; Mismetti, Valentine; Souberbielle, Jean-Claude

in Annales d'Endocrinologie (2014), 73(3), 162-164

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See detailHypothyroïdie infraclinique non auto-immune et statut iodé : étude prospective d'intervention
VALDES SOCIN, Hernan Gonzalo ULg; Tudorescu, A; Lutteri, L et al

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

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See detailLe carcinome parathyroïdien familial : une forme agressive d'hyperparathyroïdie primaire
Tudorescu, A; VROONEN, Laurent ULg; BETEA, Daniela ULg et al

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

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See detailUne néoplasie endocrinienne multiple particulière
Boccar, S; VROONEN, Laurent ULg; HAMOIR, Etienne ULg et al

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

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See detailLe PPNAD, une cause rare de syndrome de Cushing
PETIGNOT, Sandrine ULg; VROONEN, Laurent ULg; HAMOIR, Etienne ULg et al

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

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See detailReceptor expression in craniopharyngiomas causing tumor growth in pregnancy : case report and review of the literature
Tome, M; VROONEN, Laurent ULg; THIRY, Albert ULg et al

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

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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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See detailCoexistence entre adénom hypophysaire et phéochromocytome - présentation de cas
Rostomyan, Liliya ULg; Potorac, Iulia ULg; Filipponi, S et al

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

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See detailGerminome intracrânien bifocal : la biopsie est-elle toujours indispensable?
KREUTZ, Julie ULg; BONNEVILLE, Jean-François ULg; Potorac, Iulia ULg et al

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

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See detailCorrélations significatives de l'aspect en IRM haute résolution des adénomes hypophysairesà GH avant traitement
Potorac, Iulia ULg; PETROSSIANS, Patrick ULg; Schillo, F et al

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

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