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See detailNovel fibroblast growth factor receptor 1 mutation causing normosmic idiopathic hypogonadotropic hypogonadism
Chachati, AS; Potorac, I; DEBRAY, François-Guillaume 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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See detailReceptor expression in craniopharyngiomas causing tumor growth in pregnancy : case report and review of the literature
VROONEN, Laurent ULg; Tome Garcia, M; THIRY, Albert 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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See detailLe PPNAD, une cause rare de syndrome de Cushing
Petignot, S; VROONEN, Laurent ULg; HAMOIR, Etienne 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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See detailHypopituitarism in pituitary gigantism (results of an international study)
Rostomyan, L; Daly, Adrian ULg; Shah, N et al

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

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See detailLiege acromegay Survey : An epidemiological study about the average age of death and the causes of mortality of acromegalic patients managed in liege
Petignot, S; PETROSSIANS, Patrick 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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See detailClinical characteristics of patients with AIP mutation-related prolactinomas
Camby, S; Daly, Adrian ULg; VROONEN, Laurent 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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See detailReproduction, smell, and neurodevelopmental disorders: genetic defects in different hypogonadotropic hypogonadal syndromes.
VALDES SOCIN, Hernan Gonzalo ULg; Rubio Almanza, Matilde; Tome Fernandez-Ladreda, Mariana et al

in Frontiers in endocrinology (2014), 5

The neuroendocrine control of reproduction in mammals is governed by a neural hypothalamic network of nearly 1500 gonadotropin-releasing hormone (GnRH) secreting neurons that modulate the activity of the ... [more ▼]

The neuroendocrine control of reproduction in mammals is governed by a neural hypothalamic network of nearly 1500 gonadotropin-releasing hormone (GnRH) secreting neurons that modulate the activity of the reproductive axis across life. Congenital hypogonadotropic hypogonadism (HH) is a clinical syndrome that is characterized by partial or complete pubertal failure. HH may result from inadequate hypothalamic GnRH axis activation, or a failure of pituitary gonadotropin secretion/effects. In man, several genes that participate in olfactory and GnRH neuronal migration are thought to interact during the embryonic life. A growing number of mutations in different genes are responsible for congenital HH. Based on the presence or absence of olfaction dysfunction, HH is divided in two syndromes: HH with olfactory alterations [Kallmann syndrome (KS)] and idiopathic hypogonadotropic hypogonadism (IHH) with normal smell (normosmic IHH). KS is a heterogeneous disorder affecting 1 in 5000 males, with a three to fivefold of males over females. KS is associated with mutations in KAL1, FGFR1/FGF8, FGF17, IL17RD, PROK2/PROKR2, NELF, CHD7, HS6ST1, FLRT3, SPRY4, DUSP6, SEMA3A, NELF, and WDR11 genes that are related to defects in neuronal migration. These reproductive and olfactory deficits include a variable non-reproductive phenotype, including sensorineural deafness, coloboma, bimanual synkinesis, craniofacial abnormalities, and/or renal agenesis. Interestingly, defects in PROKR2, FGFR1, FGF8, CHD7, DUSP6, and WDR11 genes are also associated with normosmic IHH, whereas mutations in KISS1/KISSR, TAC3/TACR3, GNRH1/GNRHR, LEP/LEPR, HESX1, FSHB, and LHB are only present in patients with normosmic IHH. In this paper, we summarize the reproductive, neurodevelopmental, and genetic aspects of HH in human pathology. [less ▲]

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See detailReproduction, smell, and neurodevelopmental disorders: genetic defects in different hypogonadotropic hypogonadal syndromes.
VALDES SOCIN, Hernan Gonzalo ULg; Rubio Almanza, Matilde; Tome Fernandez-Ladreda, Mariana et al

in Frontiers in endocrinology (2014), 5

The neuroendocrine control of reproduction in mammals is governed by a neural hypothalamic network of nearly 1500 gonadotropin-releasing hormone (GnRH) secreting neurons that modulate the activity of the ... [more ▼]

The neuroendocrine control of reproduction in mammals is governed by a neural hypothalamic network of nearly 1500 gonadotropin-releasing hormone (GnRH) secreting neurons that modulate the activity of the reproductive axis across life. Congenital hypogonadotropic hypogonadism (HH) is a clinical syndrome that is characterized by partial or complete pubertal failure. HH may result from inadequate hypothalamic GnRH axis activation, or a failure of pituitary gonadotropin secretion/effects. In man, several genes that participate in olfactory and GnRH neuronal migration are thought to interact during the embryonic life. A growing number of mutations in different genes are responsible for congenital HH. Based on the presence or absence of olfaction dysfunction, HH is divided in two syndromes: HH with olfactory alterations [Kallmann syndrome (KS)] and idiopathic hypogonadotropic hypogonadism (IHH) with normal smell (normosmic IHH). KS is a heterogeneous disorder affecting 1 in 5000 males, with a three to fivefold of males over females. KS is associated with mutations in KAL1, FGFR1/FGF8, FGF17, IL17RD, PROK2/PROKR2, NELF, CHD7, HS6ST1, FLRT3, SPRY4, DUSP6, SEMA3A, NELF, and WDR11 genes that are related to defects in neuronal migration. These reproductive and olfactory deficits include a variable non-reproductive phenotype, including sensorineural deafness, coloboma, bimanual synkinesis, craniofacial abnormalities, and/or renal agenesis. Interestingly, defects in PROKR2, FGFR1, FGF8, CHD7, DUSP6, and WDR11 genes are also associated with normosmic IHH, whereas mutations in KISS1/KISSR, TAC3/TACR3, GNRH1/GNRHR, LEP/LEPR, HESX1, FSHB, and LHB are only present in patients with normosmic IHH. In this paper, we summarize the reproductive, neurodevelopmental, and genetic aspects of HH in human pathology. [less ▲]

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See detailA bittersweet symphony.
Daly, Adrian ULg; Beckers, Albert ULg

in Endocrine-related cancer (2014)

This issue sees the publication of work expanding the range of how genetic dysregulation of SDHx genes can cause cancer syndromes with a prominent endocrine component, in this case Carney triad, which is ... [more ▼]

This issue sees the publication of work expanding the range of how genetic dysregulation of SDHx genes can cause cancer syndromes with a prominent endocrine component, in this case Carney triad, which is characterized by gastrointestinal stromal tumors (GIST), paraganglioma and pulmonary chondromas. [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 detailA clinically novel AIP mutation in a patient with a very large, apparently sporadic somatotrope adenoma.
Salvatori, Roberto; Daly, Adrian ULg; Quinones-Hinojosa, Alfredo et al

in Endocrinology, diabetes & metabolism case reports (2014), 2014

Heterozygous germline inactivating mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene lead to pituitary adenomas that most frequently present in the setting of familial isolated ... [more ▼]

Heterozygous germline inactivating mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene lead to pituitary adenomas that most frequently present in the setting of familial isolated pituitary adenoma syndrome, usually as somatotropinomas and prolactinomas. More recently, they have been found in a significant percentage of young patients presenting with pituitary macroadenoma without any apparent family history. We describe the case of a 19-year-old man who presented with a gigantic somatotropinoma. His family history was negative. His peripheral DNA showed a heterozygous AIP mutation (p.I13N), while tumor tissue only had the mutated allele, showing loss of heterozygosity (LOH) and suggesting that the mutation caused the disease. LEARNING POINTS: AIP mutations may be observed in sporadic somatotrope adenomas occurring in young patients.LOH is a strong indicator that an AIP variant is disease causing.Somatotrope adenomas in carriers of AIP mutations are generally larger and more difficult to cure. [less ▲]

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See detailEl sindrome tirogastrico autoinmune : sus efectos sobre los micronutrientes y la tumorigenesis gastrica
VALDES SOCIN, Hernan Gonzalo ULg; LUTTERI, Laurence ULg; Cavalier, Etienne ULg et al

in Revista Argentina de Endocrinologia y Metabolismo (2014), 51

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See detailUne Histoire d'hypophyse, évolution des représentations et des concepts au fil du temps.
JEDIDI, Haroun ULg; JEDIDI, Zayd ULg; BECKERS, Albert ULg

in Revue Médicale de Liège (2014)

De par le rôle essentiel qu’il occupe, l’axe hypothalamo-hypophysaire, véritable chef d’orchestre du système endocrinien, constitue au niveau médical un important pourvoyeur de désordres. Il est assez ... [more ▼]

De par le rôle essentiel qu’il occupe, l’axe hypothalamo-hypophysaire, véritable chef d’orchestre du système endocrinien, constitue au niveau médical un important pourvoyeur de désordres. Il est assez paradoxal de constater que malgré l’importance de ce système, celui-ci ait été presque complètement méconnu par les physiologistes des siècles passés. En nous basant sur les conceptions physiologiques des médecins philosophes de l’antiquité puis du moyen-âge et de la renaissance nous tenterons de comprendre pourquoi le rôle de l’hypophyse a été si longtemps méconnu. [less ▲]

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See detailAIP-Zac 1 pathway perturbations and tumour phenotype
Beckers, Albert ULg

Scientific conference (2013, December 13)

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See detailHypopituitarism in pituitary gigantism (results of an international study)
Rostomyan, Liliya ULg; Daly, Adrian ULg; Shah, NS et al

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

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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 detailPRL tumors : diagnosis and treatment
Beckers, Albert ULg

Scientific conference (2013, November 18)

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See detailFamilial Isolated pituitary adenomas and AIP gene mutations
Beckers, Albert ULg

Scientific conference (2013, November 15)

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See detailPersistent low levels of serum hCG: please do not miss phantom hCG! (pseudohypergonadotropinemia syndrome)
VALDES SOCIN, Hernan Gonzalo ULg; SYRIOS, Petros ULg; GADISSEUR, Romy ULg et al

in Acta Clinica Belgica (2013), 68(6), 465

Introduction: Beyond pregnancy, persistent low levels of hCG may be associated with various benign and malignant conditions, i.e. quiescent gestational trophoblastic disease (QTD), raised pituitary hCG or ... [more ▼]

Introduction: Beyond pregnancy, persistent low levels of hCG may be associated with various benign and malignant conditions, i.e. quiescent gestational trophoblastic disease (QTD), raised pituitary hCG or false positive elevation caused by circulating heterophilic antibodies. This situation requires a clinico-biological approach in order to avoid misunderstandings that could lead to inappropriate diagnostic or therapeutic attitudes. Observation: A 23 years old woman (GOPO status) consulted his gynaecologist because of persistent abdominal pain. She was diagnosed of having trophoblastic disease on the basis of persistently positive human chorionic gonadotropin (hCG) test (Roche Modular) results, in the absence of pregnancy. Persistent low levels of hCG (around 10 U/L) were detected in her plasma. The patient underwent a trial with methotrexate chemotherapy. Abdominal pain was unrelieved whereas plasma hCG was 8.9 U/L. A serology test for Chlamydia indicated persistent infection and a course of antibiotic treatment was underwent without any relief. A laparoscopic exploration ruled out any trophoblastic residue or pelvic adherences. The patient was referred to the Endocrine Unit for further pituitary and hormonal investigations. Plasma and urine samples were sent to Biology Service to exclude a false hCG positive value. While low levels of hCG were detected in serum by assay, no significant hCG was detected in the urine (0,1 U/L). When serum was treated with HBT tube for the detection of heterophilic antibodies, hCG levels were 0.98 U/L. After mouse serum treatment, hCG was not further detected in our patient, indicating the presence of phantom hCG due to the presence of human anti mouse heterophilic antibodies. Conclusions: Textbooks on obstetrics and gynecology emphasize the importance of plasma hCG testing in patients with trophoblastic diseases. The ability of laboratory measurements to guide the clinician appropriately in every circumstance is limited. Caution should be exercised when clinical findings and laboratory results are discordant. Current protocols for the diagnosis and treatment of trophoblastic disease should include a compulsory test for hCG in urine and a test for heterophilic antibodies when appropriate. In this case report, we demonstrated that phantom hCG, was caused by heterogenous human anti mouse antibodies. [less ▲]

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See detailRefractory hypercalcemia and ectopic calcitonin secretion in a malignant pancreatic neuroendocrine tumor: hypocalcemic effects on cinacalcet
VALDES SOCIN, Hernan Gonzalo ULg; rubio almanza, Matilde; LOLY, Jean-Philippe ULg et al

in Acta Clinica Belgica (2013), 68(6), 42

Introduction: Paraneoplastic hypercalcemia is a sign of poor prognosis, as it is particularly resistant to the usual hypocalcemic treatments. Observation: In 2009, a well differentiated pancreatic ... [more ▼]

Introduction: Paraneoplastic hypercalcemia is a sign of poor prognosis, as it is particularly resistant to the usual hypocalcemic treatments. Observation: In 2009, a well differentiated pancreatic neuroendocrine tumor (Ki-67= 2%) is diagnosed in a 52-year-old diabetic man. The tumor is revealed with a splenic and hepatic carcinomatosis. Plasmatic calcium was: 3.54 mmol/L (2.15 - 2.6). Biology showed hypophosphatemia, PTH < 4 ng/ml, high 1-25 OH VitD, calcitonin: 1016 ng/ml (< 12 ng/ml). He had hypercalciuria and hypophosphaturia. He received for two years several cycles of Streptozotocin-ADRIAMYCIN and FOLFOX, with partial control of the tumor mass and calcium levels. In 2012, calcitonin levels are 29 ng/ml whereas calcemia is 3.17 mmol/L. Hypercalcemia is refractory to hyperhydration, diuretics, corticosteroids, and bisphosphonates therapy. Cinacalcet (Mimpara) is prescribed up to 120 mg/day (PO). Calcemia decreases gradually from 3 to 2.87 and then 2.76 mmol/L. PTH and calcitonin-the tumor mass remain unchanged. After two months of Cinacalcet treatment, Sunitinib (Sutent) 37.5 mg per day was added. During the third month, calcium levels dropped to 2.09 mmol/L and PTH raised to 78 pg/ml, requiring discontinuation of Mimpara. Calcitonin normalized, with a further improvement over pancreatic and metastatic lesions. Conclusion: Cinacalcet is a Calcium Sensing Receptor oral agonist. Cinacalcet hypocalcemic effects have not been previously documented in pancreatic paraneoplastic hypercalcemia. In our patient, Cinacalcet has significantly improved cancer prognosis: this drug could be a new alternative in paraneoplastic hypercalcemia. [less ▲]

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