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1. Health-Related Quality of Life in Patients with Multiple Endocrine Neoplasia Type 1

Author

Van Leeuwaarde, R.S. (Rachel S.), Pieterman, C.R.C. (Carolina), May, A.M. (Anne M.), Dekkers, O.M. (Olaf), Horst-Schrivers, A.N.A. (Anouk) van der, Hermus, A.R.M.M. (Ad), Herder, W.W. (Wouter) de, Drent, M.L. (Madeleine), Bisschop, P.H. (Peter), Havekes, B. (Bas), Vriens, M.R. (Menno), Valk, G.D. (Gerlof), Van Leeuwaarde, R.S. (Rachel S.), Pieterman, C.R.C. (Carolina), May, A.M. (Anne M.), Dekkers, O.M. (Olaf), Horst-Schrivers, A.N.A. (Anouk) van der, Hermus, A.R.M.M. (Ad), Herder, W.W. (Wouter) de, Drent, M.L. (Madeleine), Bisschop, P.H. (Peter), Havekes, B. (Bas), Vriens, M.R. (Menno), and Valk, G.D. (Gerlof)

Abstract

Introduction: Multiple endocrine neoplasia type 1 (MEN1) is a hereditary endocrine tumor syndrome characterized by the triad of primary hyperparathyroidism, duodenopancreatic neuroendocrine tumors (pNETs), and pituitary tumors. Patients are confronted with substantial morbidity and are consequently at risk for an impaired quality of life (QOL). Meticulous assessment of QOL and associated factors in a representative population is needed to understand the full spectrum of the burden of the disease. Patients and Methods: A cross-sectional study was performed using the national Dutch MEN1 cohort. Patients with a confirmed MEN1 mutation received the SF-36 Health Related Quality of Life questionnaire and questions regarding sociodemographic and medical history. Results: A total of 227 of 285 (80%) eligible MEN1 patients returned the questionnaires. Health-related QOL scores (HRQOL) in MEN1 patients were significantly lower for the majority of subscales of the SF-36 in comparison with the general Dutch population. The most consistent predictor for HRQOL was employment status, followed by the presence of a pituitary tumor. 16% of patients harboring a pNET and 29% of patients with a pituitary tumor according to the medical records, reported that they were unaware of such a tumor. These subgroups of patients had several significant better QOL scores than patients who were aware of their pNET or pituitary tumors. Conclusion: Patients with MEN1 have an impaired QOL in comparison with the general Dutch population warranting special attention within routine care. For daily practice, physicians should be aware of their patients' impaired QOL and of the impact of unemployment on QOL.

Published
2021
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2. Decreased Aerobic Exercise Capacity After Long-Term Remission From Cushing Syndrome: Exploration of Mechanisms

Author

Roerink, S.H.P.P. (Sean H. P. P.), Cocks, M.S. (Matthew S.), Wagenmakers, M.A.E.M., Rodighiero, R.P. (Raffaella P.), Strauss, J.A. (Juliette A.), Shepherd, S.O. (Sam O.), Plantinga, T.S. (Theo S.), Thijssen, D.H.J. (Dick), Hopman, M.T.E. (Maria), Pereira, A.M. (Alberto), Smit, J.W. (Jan W.), Wagenmakers, A.J.M. (Anton J.), Netea-Maier, R.T. (Romana), Hermus, A.R.M.M. (Ad), Roerink, S.H.P.P. (Sean H. P. P.), Cocks, M.S. (Matthew S.), Wagenmakers, M.A.E.M., Rodighiero, R.P. (Raffaella P.), Strauss, J.A. (Juliette A.), Shepherd, S.O. (Sam O.), Plantinga, T.S. (Theo S.), Thijssen, D.H.J. (Dick), Hopman, M.T.E. (Maria), Pereira, A.M. (Alberto), Smit, J.W. (Jan W.), Wagenmakers, A.J.M. (Anton J.), Netea-Maier, R.T. (Romana), and Hermus, A.R.M.M. (Ad)

Abstract

BACKGROUND: Although major improvements are achieved after cure of Cushing syndrome (CS), fatigue and decreased quality of life persist. This is the first study to measure aerobic exercise capacity in patients in remission of CS for more than 4 years in comparison with matched controls, and to investigate whether the reduction in exercise capacity is related to alterations in muscle tissue. METHODS: Seventeen patients were included. A control individual, matched for sex, estrogen status, age, body mass index, smoking, ethnicity, and physical activity level was recruited for each patient. Maximal aerobic capacity (VO2peak) was assessed during incremental bicycle exercise to exhaustion. In 8 individually matched patients and controls, a percutaneous muscle biopsy was obtained and measures were made of cross-sectional areas, capillarization, and oxphos complex IV (COXIV) protein content as an indicator of mitochondrial content. Furthermore, protein content of endothelial nitric oxide synthase (eNOS) and eNOS phosphorylated on serine1177 and of the NAD(P)H-oxidase subunits NOX2, p47phox, and p67phox were measured in the microvascular endothelial layer. FINDINGS: Patients showed a lower mean VO2peak (SD) (28.0 [7.0] vs 34.8 [7.9] ml O2/kg bw/min, P < .01), maximal workload (SD) (176 [49] vs 212 [67] watt, P = .01), and oxygen pulse (SD) (12.0 [3.7] vs 14.8 [4.2] ml/beat, P < .01) at VO2peak. No differences were seen in muscle fiber type-specific cross-sectional area, capillarization measures, mitochondrial content, and protein content of eNOS, eNOS-P-ser1177, NOX2, p47phox, and p67phox. INTERPRETATION: Because differences in muscle fiber and microvascular outcome measures are not statistically significant, we hypothesize that cardiac dysfunction, seen in active CS, persists during remission and limits blood supply to muscles.

Published
2020
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3. Long-Term Natural Course of Small Nonfunctional Pancreatic Neuroendocrine Tumors in MEN1-Results From the Dutch MEN1 Study Group

Author

Pieterman, C.R.C. (Carolina), De Laat, J.M. (Joanne M.), Twisk, J.W.R. (Jos), Van Leeuwaarde, R.S. (Rachel S.), Herder, W.W. (Wouter) de, Dreijerink, K.M.A. (Koen M A), Hermus, A.R.M.M. (Ad), Dekkers, O.M. (Olaf), Horst-Schrivers, A.N.A. (Anouk) van der, Drent, M.L. (Madeleine), Bisschop, P.H. (Peter), Havekes, B. (Bas), Borel Rinkes, I.H.M. (Inne), Vriens, M.R. (Menno), Valk, G.D. (Gerlof), Pieterman, C.R.C. (Carolina), De Laat, J.M. (Joanne M.), Twisk, J.W.R. (Jos), Van Leeuwaarde, R.S. (Rachel S.), Herder, W.W. (Wouter) de, Dreijerink, K.M.A. (Koen M A), Hermus, A.R.M.M. (Ad), Dekkers, O.M. (Olaf), Horst-Schrivers, A.N.A. (Anouk) van der, Drent, M.L. (Madeleine), Bisschop, P.H. (Peter), Havekes, B. (Bas), Borel Rinkes, I.H.M. (Inne), Vriens, M.R. (Menno), and Valk, G.D. (Gerlof)

Abstract

Background: Pancreatic neuroendocrine tumors (pNETs) are highly prevalent in patients with multiple endocrine neoplasia type 1 (MEN1), and metastatic disease is an important cause of MEN1-related mortality. Especially small nonfunctional (NF) pNETs pose a challenge to the treating physician and more information is needed regarding their natural course. We assessed long-term natural history of small NF-pNETs and its modifiers in the Dutch MEN1 population.Patients and Methods: Retrospective longitudinal observational cohort study of patients with small (<2 cm) NF-pNETs from the Dutch national MEN1 database, which includes >90% of the Dutch MEN1 population. Modifiers of long-term natural course were analyzed using linear mixed-models analysis.Results: Growth rate of the 115 included small NF-pNETs from 99 patients was slow (0.4 mm/y; 95% confidence interval, 0.15 to 0.59). Seventy percent of the tumors was stable and a subgroup of 30% of the tumors was growing (1.6 mm/y; 95% confidence interval, 1.1 to 2.0). No differences in clinical characteristics were identified between growing and stable tumors. Within the subgroup of growing tumors, germline missense mutations were significantly associated with accelerated growth compared with nonsense and frameshift mutations.Conclusion: The majority of small NF-pNETs are stable at long-term follow-up, irrespective of the underlying MEN1 genotype. A subgroup of tumors is slowly growing but cannot be identified on clinical grounds. In this subgroup, tumors with missense mutations exhibited faster growth. Additional events appear necessary for pNETs to progress. Future studies should be aimed at identifying these molecular driving events, which could be used as potential biomarkers.

Published
2017
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4. MEN1 redefined, a clinical comparison of mutation-positive and mutation-negative patients

Author

De Laat, J.M. (Joanne M.), Luijt, R.B. (Rob) van der, Pieterman, C.R.C. (Carolina), Oostveen, M.P. (Maria P.), Hermus, A.R.M.M. (Ad), Dekkers, O.M. (Olaf), Herder, W.W. (Wouter) de, Horst-Schrivers, A.N.A. (Anouk) van der, Drent, M.L. (Madeleine), Bisschop, P.H. (Peter), Havekes, B. (Bas), Vriens, M.R. (Menno), Valk, G.D. (Gerlof), De Laat, J.M. (Joanne M.), Luijt, R.B. (Rob) van der, Pieterman, C.R.C. (Carolina), Oostveen, M.P. (Maria P.), Hermus, A.R.M.M. (Ad), Dekkers, O.M. (Olaf), Herder, W.W. (Wouter) de, Horst-Schrivers, A.N.A. (Anouk) van der, Drent, M.L. (Madeleine), Bisschop, P.H. (Peter), Havekes, B. (Bas), Vriens, M.R. (Menno), and Valk, G.D. (Gerlof)

Abstract

Background: Multiple Endocrine Neoplasia type 1 (MEN1) is diagnosed when two out of the three primary MEN1-associated endocrine tumors occur in a patient. Up to 10-30 % of those patients have no mutation in the MEN1 gene. It is unclear if the phenotype and course of the disease of mutation-negative patients is comparable with mutation-positive patients and if these patients have true MEN1. The present study aims to describe and compare the clinical course of MEN1 mutation-negative patients with two out of the three main MEN1 manifestations and mutation-positive patients during long-term follow-up. Methods: This is a cohort study performed using the Dutch MEN1 database, including > 90 % of the Dutch MEN1 population. Results: A total of 293 (90.7 %) mutation-positive and 30 (9.3 %) mutation-negative MEN1 patients were included. Median age of developing the first main MEN1 manifestation was higher in mutation-negative patients (46 vs. 33 years) (P = 0.007). Mutation-negative patients did not develop a third main MEN1 manifestation in the course of follow-up compared to 48.3 % of mutation-positive patients (P < 0.001). Median survival in mutation-positive patients was estimated at 73.0 years (95 % CI, 69.5-76.5) compared to 87.0 years (95 % CI not available) in mutation-negative patients (P = 0.001). Conclusions: Mutation-positive and mutation-negative MEN1 patients have a different phenotype and clinical course. Mutation-negative patients develop MEN1 manifestations at higher age and have a life expectancy comparable with the general population. The apparent differences in clinical course suggest that MEN1 mutation-negative patients do not have true MEN1, but another MEN1-like syndrome or sporadic co-incidence of two neuro-endocrine tumors

Published
2016
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5. Identification of Novel Genetic Loci Associated with Thyroid Peroxidase Antibodies and Clinical Thyroid Disease

Author

Medici, M. (Marco), Porcu, E. (Eleonora), Pistis, G. (Giorgio), Teumer, A. (Alexander), Brown, S.J. (Stephen), Jensen, R.A. (Richard), Rawal, R. (Rajesh), Roef, G.L. (Greet), Plantinga, T.S. (Theo S.), Vermeulen, S.H.H.M. (Sita), Lahti, J. (Jari), Simmonds, M.C. (Mark), Husemoen, L.L.N. (Lise Lotte), Freathy, R.M. (Rachel), Shields, B.M. (Beverley), Pietzner, D. (Diana), Nagy, R. (Rebecca), Broer, L. (Linda), Chaker, L. (Layal), Korevaar, T.I.M. (Tim), Plia, M.G. (Maria Grazia), Sala, C. (Cinzia), Völker, U. (Uwe), Richards, J.B. (Brent), Sweep, F.C. (Fred), Gieger, C. (Christian), Corre, T. (Tanguy), Kajantie, E. (Eero), Thuesen, L. (Leif), Taes, Y.E. (Youri), Visser, W.E. (Edward), Hattersley, A.T. (Andrew), Kratzsch, J. (Jürgen), Hamilton, A. (Amy), Li, W. (Wei), Homuth, G. (Georg), Lobina, M. (Monia), Mariotti, S. (Stefano), Soranzo, N. (Nicole), Cocca, M. (Massimiliano), Nauck, M. (Matthias), Spielhagen, C. (Christin), Ross, H.A. (Alec), Arnold, A.M. (Alice), Bunt, M. (Martijn) van de, Liyanarachchi, S. (Sandya), Heier, M. (Margit), Grabe, H.J. (Hans Jörgen), Masciullo, C. (Corrado), Galesloot, T.E. (Tessel), Lim, E.M. (Ee Mun), Reischl, G. (Gunilla), Leedman, P.J. (Peter), Lai, S. (Sandra), Delitala, A. (Alessandro), Bremner, A. (Alexandra), Philips, D.I.W. (David I.), Beilby, J.P. (John), Mulas, A. (Antonella), Vocale, M. (Matteo), Abecasis, G.R. (Gonçalo), Forsen, T. (Tom), James, A. (Alan), Widen, E. (Elisabeth), Hui, J. (Jennie), Prokisch, H. (Holger), Rietzschel, E.E. (Ernst), Palotie, A. (Aarno), Feddema, W. (Wouter), Fletcher, S.J. (Stephen), Schramm, K. (Katharina), Rotter, J.I. (Jerome), Kluttig, A. (Alexander), Radke, D. (Dörte), Traglia, M. (Michela), Surdulescu, G. (Gabriela), He, H. (Hao), Franklyn, J.A. (Jayne), Tiller, D. (Daniel), Vaidya, B. (Bijay), Meyer, T. (Thorsten), Jorgensen, T. (Torben), Hagen, K. (Knut), O'Leary, P.C. (Peter), Wichmann, E. (Eric), Hermus, A.R.M.M. (Ad), Psaty, B.M. (Bruce), Ittermann, T. (Till), Hofman, A. (Albert), Bosi, E. (Emanuele), Schlessinger, D. (David), Wallaschofski, H. (Henri), Pirastu, N. (Nicola), Aulchenko, Y.S. (Yurii), de la Chapelle, A. (Albert), Netea-Maier, R.T. (Romana), Gough, J.E. (Julie), Meyer zu Schwabedissen, H. (Henriette), Frayling, T.M. (Timothy), Kaufman, J.-M. (Jean-Marc), Linneberg, A. (Allan), Räikkönen, K. (Katri), Smit, J.W.A. (Jan), Kiemeney, L.A.L.M. (Bart), Rivadeneira Ramirez, F. (Fernando), Uitterlinden, A.G. (André), Walsh, J.P. (John), Meisinger, C. (Christa), Heijer, M. (Martin) den, Visser, T.J. (Theo), Spector, T.D. (Timothy), Wilson, S.G. (Scott), Völzke, H. (Henry), Cappola, A.R. (Anne), Toniolo, D. (Daniela), Sanna, S. (Serena), Naitza, S. (Silvia), Peeters, R.P. (Robin), Medici, M. (Marco), Porcu, E. (Eleonora), Pistis, G. (Giorgio), Teumer, A. (Alexander), Brown, S.J. (Stephen), Jensen, R.A. (Richard), Rawal, R. (Rajesh), Roef, G.L. (Greet), Plantinga, T.S. (Theo S.), Vermeulen, S.H.H.M. (Sita), Lahti, J. (Jari), Simmonds, M.C. (Mark), Husemoen, L.L.N. (Lise Lotte), Freathy, R.M. (Rachel), Shields, B.M. (Beverley), Pietzner, D. (Diana), Nagy, R. (Rebecca), Broer, L. (Linda), Chaker, L. (Layal), Korevaar, T.I.M. (Tim), Plia, M.G. (Maria Grazia), Sala, C. (Cinzia), Völker, U. (Uwe), Richards, J.B. (Brent), Sweep, F.C. (Fred), Gieger, C. (Christian), Corre, T. (Tanguy), Kajantie, E. (Eero), Thuesen, L. (Leif), Taes, Y.E. (Youri), Visser, W.E. (Edward), Hattersley, A.T. (Andrew), Kratzsch, J. (Jürgen), Hamilton, A. (Amy), Li, W. (Wei), Homuth, G. (Georg), Lobina, M. (Monia), Mariotti, S. (Stefano), Soranzo, N. (Nicole), Cocca, M. (Massimiliano), Nauck, M. (Matthias), Spielhagen, C. (Christin), Ross, H.A. (Alec), Arnold, A.M. (Alice), Bunt, M. (Martijn) van de, Liyanarachchi, S. (Sandya), Heier, M. (Margit), Grabe, H.J. (Hans Jörgen), Masciullo, C. (Corrado), Galesloot, T.E. (Tessel), Lim, E.M. (Ee Mun), Reischl, G. (Gunilla), Leedman, P.J. (Peter), Lai, S. (Sandra), Delitala, A. (Alessandro), Bremner, A. (Alexandra), Philips, D.I.W. (David I.), Beilby, J.P. (John), Mulas, A. (Antonella), Vocale, M. (Matteo), Abecasis, G.R. (Gonçalo), Forsen, T. (Tom), James, A. (Alan), Widen, E. (Elisabeth), Hui, J. (Jennie), Prokisch, H. (Holger), Rietzschel, E.E. (Ernst), Palotie, A. (Aarno), Feddema, W. (Wouter), Fletcher, S.J. (Stephen), Schramm, K. (Katharina), Rotter, J.I. (Jerome), Kluttig, A. (Alexander), Radke, D. (Dörte), Traglia, M. (Michela), Surdulescu, G. (Gabriela), He, H. (Hao), Franklyn, J.A. (Jayne), Tiller, D. (Daniel), Vaidya, B. (Bijay), Meyer, T. (Thorsten), Jorgensen, T. (Torben), Hagen, K. (Knut), O'Leary, P.C. (Peter), Wichmann, E. (Eric), Hermus, A.R.M.M. (Ad), Psaty, B.M. (Bruce), Ittermann, T. (Till), Hofman, A. (Albert), Bosi, E. (Emanuele), Schlessinger, D. (David), Wallaschofski, H. (Henri), Pirastu, N. (Nicola), Aulchenko, Y.S. (Yurii), de la Chapelle, A. (Albert), Netea-Maier, R.T. (Romana), Gough, J.E. (Julie), Meyer zu Schwabedissen, H. (Henriette), Frayling, T.M. (Timothy), Kaufman, J.-M. (Jean-Marc), Linneberg, A. (Allan), Räikkönen, K. (Katri), Smit, J.W.A. (Jan), Kiemeney, L.A.L.M. (Bart), Rivadeneira Ramirez, F. (Fernando), Uitterlinden, A.G. (André), Walsh, J.P. (John), Meisinger, C. (Christa), Heijer, M. (Martin) den, Visser, T.J. (Theo), Spector, T.D. (Timothy), Wilson, S.G. (Scott), Völzke, H. (Henry), Cappola, A.R. (Anne), Toniolo, D. (Daniela), Sanna, S. (Serena), Naitza, S. (Silvia), and Peeters, R.P. (Robin)

Abstract

Autoimmune thyroid diseases (AITD) are common, affecting 2-5% of the general population. Individuals with positive thyroid peroxidase antibodies (TPOAbs) have an increased risk of autoimmune hypothyroidism (Hashimoto's thyroiditis), as well as autoimmune hyperthyroidism (Graves' disease). As the possible causative genes of TPOAbs and AITD remain largely unknown, we performed GWAS meta-analyses in 18,297 individuals for TPOAb-positivity (1769 TPOAb-positives and 16,528 TPOAb-negatives) and in 12,353 individuals for TPOAb serum levels, with replication in 8,990 individuals. Significant associations (P<5×10-8) were detected at T

Published
2014
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6. Long-term effects of previous oxandrolone treatment in adult women with Turner syndrome

Author

Freriks, K. (Kim), Sas, T.C.J. (Theo), Traas, T. (Theo), Netea-Maier, R.T. (Romana), Heijer, M. (Martin) den, Hermus, A.R.M.M. (Ad), Wit, J.M. (Jan), Van Alfen-van Der Velden, J.A.E.M. (Janiëlle), Otten, B.J. (Barto), Muinck Keizer-Schrama, S.M.P.F. (Sabine) de, Gotthardt, M. (Martin), Dejonckere, P.H. (Philippe), Zandwijken, G.R.J. (Gladys), Menke, L.A. (Leonie), Timmers, H.J.L.M. (Henri), Freriks, K. (Kim), Sas, T.C.J. (Theo), Traas, T. (Theo), Netea-Maier, R.T. (Romana), Heijer, M. (Martin) den, Hermus, A.R.M.M. (Ad), Wit, J.M. (Jan), Van Alfen-van Der Velden, J.A.E.M. (Janiëlle), Otten, B.J. (Barto), Muinck Keizer-Schrama, S.M.P.F. (Sabine) de, Gotthardt, M. (Martin), Dejonckere, P.H. (Philippe), Zandwijken, G.R.J. (Gladys), Menke, L.A. (Leonie), and Timmers, H.J.L.M. (Henri)

Abstract

Objective: Short stature is a prominent feature of Turner syndrome (TS), which is partially overcome by GH treatment. We have previously reported the results of a trial on the effect of oxandrolone (Ox) in girls with TS. Ox in a dose of 0.03 mg/kg per day (Ox 0.03) significantly increased adult height gain, whereas Ox mg/kg per day (0.06) did not, at the cost of deceleration of bre

Published
2013
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7. A Meta-Analysis of Thyroid-Related Traits Reveals Novel Loci and Gender-Specific Differences in the Regulation of Thyroid Function

Author

Porcu, E. (Eleonora), Medici, M. (Marco), Pistis, G. (Giorgio), Volpato, C.B., Wilson, S.G. (Scott), Cappola, A.R. (Anne), Bos, S.D. (Steffan), Deelen, J. (Joris), Heijer, M. (Martin) den, Freathy, R.M. (Rachel), Lahti, J. (Jari), Liu, C. (Chunyu), Lopez, L.M. (Lorna), Nolte, I.M. (Ilja), O´Connell, J.R., Tanaka, T. (Toshiko), Trompet, S. (Stella), Arnold, A.M. (Alice), Bandinelli, S. (Stefania), Beekman, M. (Marian), Böhringer, S. (Stefan), Brown, S.J. (Stephen), Buckley, B.M. (Brendan M.), Camaschella, C. (Clara), Craen, A.J. (Anton) de, Davies, G. (Gail), Visser, M.C.H. (Marieke) de, Ford, I. (Ian), Forsen, T. (Tom), Frayling, T.M. (Timothy), Fugazzola, L. (Laura), Gögele, M. (Martin), Hattersley, A.T. (Andrew), Hermus, A.R.M.M. (Ad), Hofman, A. (Albert), Houwing-Duistermaat, J.J. (Jeanine), Jensen, R.A. (Richard), Kajantie, E. (Eero), Kloppenburg, M. (Margreet), Lim, E.M. (Ee Mun), Masciullo, C. (Corrado), Mariotti, S. (Stefano), Minelli, C. (Cosetta), Mitchell, B.D. (Braxton), Nagaraja, R. (Ramaiah), Netea-Maier, R.T. (Romana), Palotie, A. (Aarno), Persani, L. (Luca), Piras, M.G. (Maria Grazia), Psaty, B.M. (Bruce), Räikkönen, K. (Katri), Richards, J.B. (Brent), Rivadeneira Ramirez, F. (Fernando), Sala, C. (Cinzia), Sabra, M.M. (Mona), Sattar, N. (Naveed), Shields, B.M. (Beverley), Soranzo, N. (Nicole), Starr, J.M. (John), Stott, D.J. (David. J.), Sweep, F.C. (Fred), Usala, G., Klauw, M.M. (Melanie) van der, Heemst, D. (Diana) van, Mol-van Mullem, A.A.A. (Alies) van, Vermeulen, S.H. (Sita), Walsh, J.P. (John), Westendorp, R.G.J. (Rudi), Widen, E. (Elisabeth), Zhai, G. (Guangju), Cucca, F. (Francesco), Deary, I.J. (Ian), Visser, W.E. (Edward), Eriksson, J.G. (Johan), Ferrucci, L. (Luigi), Fox, C. (Craig), Jukema, J.W. (Jan Wouter), Kiemeney, L.A.L.M. (Bart), Pramstaller, P.P. (Peter Paul), Schlessinger, D., Shuldiner, A.R. (Alan), Slagboom, P.E. (Eline), Uitterlinden, A.G. (André), Vaidya, B. (Bijay), Visser, T.J. (Theo), Wolffenbuttel, B.H.R. (Bruce), Meulenbelt, I. (Ingrid), Rotter, J.I. (Jerome), Spector, T.D. (Timothy), Hicks, A.A. (Andrew), Toniolo, D. (Daniela), Sanna, S. (Serena), Peeters, R.P. (Robin), Naitza, S. (Silvia), Porcu, E. (Eleonora), Medici, M. (Marco), Pistis, G. (Giorgio), Volpato, C.B., Wilson, S.G. (Scott), Cappola, A.R. (Anne), Bos, S.D. (Steffan), Deelen, J. (Joris), Heijer, M. (Martin) den, Freathy, R.M. (Rachel), Lahti, J. (Jari), Liu, C. (Chunyu), Lopez, L.M. (Lorna), Nolte, I.M. (Ilja), O´Connell, J.R., Tanaka, T. (Toshiko), Trompet, S. (Stella), Arnold, A.M. (Alice), Bandinelli, S. (Stefania), Beekman, M. (Marian), Böhringer, S. (Stefan), Brown, S.J. (Stephen), Buckley, B.M. (Brendan M.), Camaschella, C. (Clara), Craen, A.J. (Anton) de, Davies, G. (Gail), Visser, M.C.H. (Marieke) de, Ford, I. (Ian), Forsen, T. (Tom), Frayling, T.M. (Timothy), Fugazzola, L. (Laura), Gögele, M. (Martin), Hattersley, A.T. (Andrew), Hermus, A.R.M.M. (Ad), Hofman, A. (Albert), Houwing-Duistermaat, J.J. (Jeanine), Jensen, R.A. (Richard), Kajantie, E. (Eero), Kloppenburg, M. (Margreet), Lim, E.M. (Ee Mun), Masciullo, C. (Corrado), Mariotti, S. (Stefano), Minelli, C. (Cosetta), Mitchell, B.D. (Braxton), Nagaraja, R. (Ramaiah), Netea-Maier, R.T. (Romana), Palotie, A. (Aarno), Persani, L. (Luca), Piras, M.G. (Maria Grazia), Psaty, B.M. (Bruce), Räikkönen, K. (Katri), Richards, J.B. (Brent), Rivadeneira Ramirez, F. (Fernando), Sala, C. (Cinzia), Sabra, M.M. (Mona), Sattar, N. (Naveed), Shields, B.M. (Beverley), Soranzo, N. (Nicole), Starr, J.M. (John), Stott, D.J. (David. J.), Sweep, F.C. (Fred), Usala, G., Klauw, M.M. (Melanie) van der, Heemst, D. (Diana) van, Mol-van Mullem, A.A.A. (Alies) van, Vermeulen, S.H. (Sita), Walsh, J.P. (John), Westendorp, R.G.J. (Rudi), Widen, E. (Elisabeth), Zhai, G. (Guangju), Cucca, F. (Francesco), Deary, I.J. (Ian), Visser, W.E. (Edward), Eriksson, J.G. (Johan), Ferrucci, L. (Luigi), Fox, C. (Craig), Jukema, J.W. (Jan Wouter), Kiemeney, L.A.L.M. (Bart), Pramstaller, P.P. (Peter Paul), Schlessinger, D., Shuldiner, A.R. (Alan), Slagboom, P.E. (Eline), Uitterlinden, A.G. (André), Vaidya, B. (Bijay), Visser, T.J. (Theo), Wolffenbuttel, B.H.R. (Bruce), Meulenbelt, I. (Ingrid), Rotter, J.I. (Jerome), Spector, T.D. (Timothy), Hicks, A.A. (Andrew), Toniolo, D. (Daniela), Sanna, S. (Serena), Peeters, R.P. (Robin), and Naitza, S. (Silvia)

Published
2013
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8. The hypercoagulable state in Cushing's disease is associated with increased levels of procoagulant factors and impaired fibrinolysis, but is not reversible after short-term biochemical remission induced by medical therapy

Author

Pas, R. (Rob) van der, Bruin, C. (Christiaan) de, Leebeek, F.W.G. (Frank), Maat, M.P.M. (Moniek) de, Rijken, D.C. (Dingeman), Pereira, A.M. (Alberto), Romijn, J.A. (Johannes), Netea-Maier, R.T. (Romana), Hermus, A.R.M.M. (Ad), Zelissen, P.M. (Pierre M.), Jong, F.H. (Frank) de, Lely, A-J. (Aart-Jan) van der, Herder, W.W. (Wouter) de, Lamberts, S.W.J. (Steven), Hofland, L.J. (Leo), Feelders, R.A. (Richard), Pas, R. (Rob) van der, Bruin, C. (Christiaan) de, Leebeek, F.W.G. (Frank), Maat, M.P.M. (Moniek) de, Rijken, D.C. (Dingeman), Pereira, A.M. (Alberto), Romijn, J.A. (Johannes), Netea-Maier, R.T. (Romana), Hermus, A.R.M.M. (Ad), Zelissen, P.M. (Pierre M.), Jong, F.H. (Frank) de, Lely, A-J. (Aart-Jan) van der, Herder, W.W. (Wouter) de, Lamberts, S.W.J. (Steven), Hofland, L.J. (Leo), and Feelders, R.A. (Richard)

Abstract

Context: Cushing's disease (CD) is accompanied by an increased risk of venous thromboembolism. Surgery is the primary treatment of CD. Objective: The aim of the study was to compare hemostatic parameters between patients with CD and controls and to evaluate the effect of medical treatment of CD on hemostasis. Design and Setting: During 80 d, stepwise medical treatment was applied with the somatostatin analog pasireotide, the dopamine agonist cabergoline, and ketoconazole, which suppresses adrenocortical steroidogenesis, at four university medical centers in The Netherlands. Patients: Seventeen patients with de novo, residual, or recurrent CD were included. Main Outcome Measures: We measured urinary free cortisol and parameters of coagulation and fibrinolysis. Results: Patients with CD had significantly higher body mass index (P-< 0.001), shortened activated partial thromboplastin time (P-< 0.01), and higher levels of fibrinogen, Factor VIII, and protein S activity (P-< 0.05) compared to healthy control subjects. In addition, fibrinolytic capac

Published
2012
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9. The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome

Author

Bergman, J.E.H. (Jorieke), Ronde, W.A. (Willem) de, Jongmans, M.C.J. (Marjolijn), Wolffenbuttel, B.H.R. (Bruce), Drop, S.L.S. (Stenvert), Hermus, A.R.M.M. (Ad), Bocca, G. (Gianni), Hoefsloot, E.H. (Lies), Ravenswaaij-Arts, C.M.A. (Conny) van, Bergman, J.E.H. (Jorieke), Ronde, W.A. (Willem) de, Jongmans, M.C.J. (Marjolijn), Wolffenbuttel, B.H.R. (Bruce), Drop, S.L.S. (Stenvert), Hermus, A.R.M.M. (Ad), Bocca, G. (Gianni), Hoefsloot, E.H. (Lies), and Ravenswaaij-Arts, C.M.A. (Conny) van

Abstract

Context: Kallmann syndrome (KS) and CHARGE syndrome are rare heritable disorders in which anosmia and hypogonadotropic hypogonadism co-occur. KS is genetically heterogeneous, and there are at least eight genes involved in its pathogenesis, whereas CHARGE syndrome is caused by autosomal dominant mutations in only one gene, the CHD7 gene. Two independent studies showed that CHD7 mutations can also be found in a minority of KS patients. Objective: We aimed to investigate whether CHD7 mutations can give rise to isolated KS or whether additional features of CHARGE syndrome always occur. Design: We performed CHD7 analysis in a cohort of 36 clinically well-characterized Dutch patients with KS but without mutations in KAL1 and with known status for the KS genes with incomplete penetrance, FGFR1, PROK2, PROKR2, and FGF8. Results: We identified three heterozygous CHD7 mutations. The CHD7-positive patients were carefully reexamined and were all found to have additional features of CHARGE syndrome. Conclusion: The yield of CHD7 analysis in patients with isolated KS seems very low but increases when additional CHARGE features are present. Therefore, we recommend performing CHD7 analysis in KS patients who have at least two additional CHARGE features or semicircular canal anomalies. Identifying a CHD7 mutation has important clinical implications for the surveillance and genetic counseling of patients. Copyright

Published
2012
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10. Pasireotide alone or with cabergoline and ketoconazole in Cushing's disease

Author

Feelders, R.A. (Richard), Bruin, C. (Christiaan) de, Pereira, A.M. (Alberto), Romijn, J.A. (Johannes), Netea-Maier, R.T. (Romana), Hermus, A.R.M.M. (Ad), Zelissen, P.M. (Pierre M.), Heerebeek, R. (Ramona) van, Jong, F.H. (Frank) de, Lely, A-J. (Aart-Jan) van der, Herder, W.W. (Wouter) de, Hofland, L.J. (Leo), Lamberts, S.W.J. (Steven), Feelders, R.A. (Richard), Bruin, C. (Christiaan) de, Pereira, A.M. (Alberto), Romijn, J.A. (Johannes), Netea-Maier, R.T. (Romana), Hermus, A.R.M.M. (Ad), Zelissen, P.M. (Pierre M.), Heerebeek, R. (Ramona) van, Jong, F.H. (Frank) de, Lely, A-J. (Aart-Jan) van der, Herder, W.W. (Wouter) de, Hofland, L.J. (Leo), and Lamberts, S.W.J. (Steven)

Published
2010
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11. Treatment of adrenocorticotropin-dependent cushing's syndrome: A consensus statement

Author

Biller, B.M.K., Grossman, A. (Ashley Barry), Stewart, P.M., Melmed, S. (Shlomo), Bertagna, X., Bertherat, J. (Jerome), Buchfelder, M., Colao, A. (Annamaria), Hermus, A.R.M.M. (Ad), Hofland, L.J. (Leo), Klibanski, A., Lacroix, A., Lindsay, J.R., Newell-Price, J. (John), Nieman, L.K., Petersenn, S., Sonino, N., Stalla, G.K. (Günter), Swearingen, B., Vance, M.L., Wass, J.A.H. (John), Boscaro, M., Biller, B.M.K., Grossman, A. (Ashley Barry), Stewart, P.M., Melmed, S. (Shlomo), Bertagna, X., Bertherat, J. (Jerome), Buchfelder, M., Colao, A. (Annamaria), Hermus, A.R.M.M. (Ad), Hofland, L.J. (Leo), Klibanski, A., Lacroix, A., Lindsay, J.R., Newell-Price, J. (John), Nieman, L.K., Petersenn, S., Sonino, N., Stalla, G.K. (Günter), Swearingen, B., Vance, M.L., Wass, J.A.H. (John), and Boscaro, M.

Abstract

Objective: Our objective was to evaluate the published literature and reach a consensus on the treatment of patients with ACTH-dependent Cushing's syndrome, because there is no recent consensus on the management of this rare disorder. Participants: Thirty-two leading endocrinologists, clinicians, and neurosurgeons with specific expertise in the management of ACTH-dependent Cushing's syndrome representing nine countries were chosen to address 1) criteria for cure and remission of this disorder, 2) surgical treatment of Cushing's disease, 3) therapeutic options in the event of persistent disease after transsphenoidal surgery, 4) medical therapy of Cushing's disease, and 5) management of ectopic ACTH syndrome, Nelson's syndrome, and special patient populations. Evidence: Participants presented published scientific data, which formed the basis of the recommendations. Opinion shared by a majority of experts was used where strong evidence was lacking. Consensus Process: Participants met for 2 d, during which there were four chaired sessions of presentations, followed by general discussion where a consensus was reached. The consensus statement was prepared by a steering committee and was then reviewed by all authors, with suggestions incorporated if agreed upon by the majority. Conclusions: ACTH-dependent Cushing's syndrome is a heterogeneous disorder requiring a multidisciplinary and individualized approach to patie

Published
2008
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12. Different effects of continuous infusion of interleukin-1 and interleukin-6 on the hypothalamic-hypophysial-thyroid axis

Author

Haasteren, G.A.C. (Goedele) van, Meer, M.J. van der, Hermus, A.R.M.M. (Ad), Linkels, E., Klootwijk, W. (Willem), Kaptein, E. (Ellen), Toor, H. (Hans) van, Sweep, C.G., Visser, T.J. (Theo), Greef, W.J. de, Haasteren, G.A.C. (Goedele) van, Meer, M.J. van der, Hermus, A.R.M.M. (Ad), Linkels, E., Klootwijk, W. (Willem), Kaptein, E. (Ellen), Toor, H. (Hans) van, Sweep, C.G., Visser, T.J. (Theo), and Greef, W.J. de

Abstract

The cytokines interleukin-1 (IL-1) and IL-6 are thought to be important mediators in the suppression of thyroid function during nonthyroidal illness. In this study we compared the effects of IL-1 and IL-6 infusion on the hypothalamus-pituitary-thyroid axis in rats. Cytokines were administered by continuous ip infusion of 4 micrograms IL-1 alpha/day for 1, 2, or 7 days or of 15 micrograms IL-6/day for 7 days. Body weight and temperature, food and water intake, and plasma TSH, T4, free T4 (FT4), T3, and corticosterone levels were measured daily, and hypothalamic pro-TRH messenger RNA (mRNA) and hypophysial TSH beta mRNA were determined after termination of the experiments. Compared with saline-treated controls, infusion of IL-1, but not of IL-6, produced a transient decrease in food and water intake, a transient increase in body temperature, and a prolonged decrease in body weight. Both cytokines caused transient decreases in plasma TSH and T4, which were greater and more prolonged with IL-1 than with IL-6, whereas they effected similar transient increases in the plasma FT4 fraction. Infusion with IL-1, but not IL-6, also induced transient decreases in plasma FT4 and T3 and a transient increase in plasma corticosterone. Hypothalamic pro-TRH mRNA was significantly decreased (-73%) after 7 days, but not after 1 or 2 days, of IL-1 infusion and was unaffected by IL-6 infusion. Hypophysial TSH beta mRNA was significantly decreased after 2 (-62%) and 7 (-62%) days, but not after 1 day, of IL-1 infusion and was unaffected by IL-6 infusion. These results are in agreement with previous findings that IL-1, more so than IL-6, directly inhibits thyroid hormone production. They also indicate that IL-1 and IL-6 both decrease plasma T4 binding. Furthermore, both cytokines induce an acute and dramatic decrease in plasma TSH before (IL-1) or even without (IL-6) a decrease in hypothalamic pro-TRH mRNA or hypophysial TSH beta mRNA, suggesting that the acute decrease in TSH secretion is

Published
1994

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