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149 results on '"Gevers, Evelien F."'

2. A Novel Maternally Inherited GNAS Variant in a Family With Hyperphagia and Obesity: 3 Cases.

Author

Ramakrishnan, Anand, Popat, Dillon, Purushothaman, Preetha, Chan, Li F., and Gevers, Evelien F.

Subjects
OBESITY genetics, MELANOCORTIN receptors, BODY mass index, CHILDHOOD obesity, HORMONE receptors
Abstract

GNAS variants were recently described in 1% of patients not known to have pseudohypoparathyroidism/inactivating PTH/PTHrP signalling disorder 2 in the UK Genetics of Obesity Study. We describe a new missense GNAS variant, c.791A > C, p.(Asp264Thr), in a family with obesity, hyperphagia and mild PTH resistance. A 6-year-old female (body mass index +4.3 SD score [SDS], height +1.9 SDS) presented with hyperphagia and obesity from age 3 years. She had subtle brachydactyly, macrocephaly, and mildly delayed development. The 12-year-old brother (height +2.1 SDS, body mass index +2.9 SDS) had hyperphagia, obesity, mildly delayed development, and autism. He had subtle brachydactyly, as did the affected mother. We assessed the functional effect of the mutant, measuring cAMP production in cells transfected with wild type and mutant GNAS after ligand stimulation. Cells with the mutant GNAS showed impaired cAMP generation through melanocortin receptor 4, GH releasing hormone receptor, and PTH receptor. These cases demonstrate the clinical heterogeneity of monogenic disease, suggesting a need to test for PHP1A in children with obesity even without classical signs of PHP1A. [ABSTRACT FROM AUTHOR]

Published
2024
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3. National Service Evaluation of the Quality of Care for Children and Young People with Congenital Adrenal Hyperplasia in the UK: Survey Responses from Patients and Clinicians

Author

Lawrence, Neil R., primary, Bacila, Irina A., additional, Collins, Gary S., additional, Dawson, Jeremy, additional, Lang, Zi-Qiang, additional, Ji, Xiaochen, additional, Ahmed, S. Faisal, additional, Alvi, Sabah, additional, Bath, Louise Eleanor, additional, Blair, Joanne, additional, Cheetham, Tim, additional, Crowne, Elizabeth Clare, additional, Davies, Justin H., additional, Dattani, Mehul, additional, Gevers, Evelien F., additional, Krone, Ruth, additional, Patel, Leena, additional, Thankamony, Ajay, additional, Randell, Tabitha, additional, Ryan, Fiona, additional, Elford, Sue, additional, Blackett, Sallyann, additional, and Krone, Nils P., additional

Published
2024
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5. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Author

Groeneweg, Stefan, van Geest, Ferdy S, Abacı, Ayhan, Alcantud, Alberto, Ambegaonkar, Gautam P, Armour, Christine M, Bakhtiani, Priyanka, Barca, Diana, Bertini, Enrico S, van Beynum, Ingrid M, Brunetti-Pierri, Nicola, Bugiani, Marianna, Cappa, Marco, Cappuccio, Gerarda, Castellotti, Barbara, Castiglioni, Claudia, Chatterjee, Krishna, de Coo, Irenaeus F M, Coutant, Régis, Craiu, Dana, Crock, Patricia, DeGoede, Christian, Demir, Korcan, Dica, Alice, Dimitri, Paul, Dolcetta-Capuzzo, Anna, Dremmen, Marjolein H G, Dubey, Rachana, Enderli, Anina, Fairchild, Jan, Gallichan, Jonathan, George, Belinda, Gevers, Evelien F, Hackenberg, Annette, Halász, Zita, Heinrich, Bianka, Huynh, Tony, Kłosowska, Anna, van der Knaap, Marjo S, van der Knoop, Marieke M, Konrad, Daniel, Koolen, David A, Krude, Heiko, Lawson-Yuen, Amy, Lebl, Jan, Linder-Lucht, Michaela, Lorea, Cláudia F, Lourenço, Charles M, Lunsing, Roelineke J, Lyons, Greta, Malikova, Jana, Mancilla, Edna E, McGowan, Anne, Mericq, Veronica, Lora, Felipe M, Moran, Carla, Müller, Katalin E, Oliver-Petit, Isabelle, Paone, Laura, Paul, Praveen G, Polak, Michel, Porta, Francesco, Poswar, Fabiano O, Reinauer, Christina, Rozenkova, Klara, Menevse, Tuba S, Simm, Peter, Simon, Anna, Singh, Yogen, Spada, Marco, van der Spek, Jet, Stals, Milou A M, Stoupa, Athanasia, Subramanian, Gopinath M, Tonduti, Davide, Turan, Serap, den Uil, Corstiaan A, Vanderniet, Joel, van der Walt, Adri, Wémeau, Jean-Louis, Wierzba, Jolante, de Wit, Marie-Claire Y, Wolf, Nicole I, Wurm, Michael, Zibordi, Federica, Zung, Amnon, Zwaveling-Soonawala, Nitash, and Visser, W Edward

Published
2020
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6. Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans

Author

Gualtieri, Angelica, Kyprianou, Nikolina, Gregory, Louise C., Vignola, Maria Lillina, Nicholson, James G., Tan, Rachael, Inoue, Shin-ichi, Scagliotti, Valeria, Casado, Pedro, Blackburn, James, Abollo-Jimenez, Fernando, Marinelli, Eugenia, Besser, Rachael E. J., Högler, Wolfgang, Karen Temple, I., Davies, Justin H., Gagunashvili, Andrey, Robinson, Iain C.A.F., Camper, Sally A., Davis, Shannon W., Cutillas, Pedro R., Gevers, Evelien F., Aoki, Yoko, Dattani, Mehul T., and Gaston-Massuet, Carles

Published
2021
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7. Proportion of Basal to Total Insulin Dose Is Associated with Metabolic Control, Body Mass Index, and Treatment Modality in Children with Type 1 Diabetes—A Cross-Sectional Study with Data from the International SWEET Registry

Author

Rasmussen, Vinni Faber, Vestergaard, Esben Thyssen, Schwandt, Anke, Beltrand, Jacques, Rami-Merhar, Birgit, O'Riordan, Stephen M.P., Jarosz-Chobot, Przemyslawa, Castro-Correia, Cintia, Gevers, Evelien F., and Birkebæk, Niels H.

Published
2019
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8. Exploring the Surge in Paediatric Type 2 Diabetes in an Inner-City London Centre—A Decade-Long Analysis of Incidence, Outcomes, and Transition.

Author

Abdelhameed, Farah, Giuffrida, Anna, Thorp, Ben, Moorthy, Myuri K., and Gevers, Evelien F.

Subjects
GLYCOSYLATED hemoglobin, HYPERTENSION, AUTOANTIBODIES, ALBUMINS, CARDIOVASCULAR diseases risk factors, TRANSITION to adulthood, CHILDHOOD obesity, FATTY liver, TRANSITIONAL care, DISEASE incidence, RETROSPECTIVE studies, ACQUISITION of data, CARDIOVASCULAR diseases, MANN Whitney U Test, BLOOD sugar, PRADER-Willi syndrome, TYPE 2 diabetes, NATIONAL health services, METABOLIC disorders, TREATMENT failure, HYPERLIPIDEMIA, T-test (Statistics), INSULIN, TREATMENT effectiveness, SEVERITY of illness index, DISEASE prevalence, MEDICAL records, DESCRIPTIVE statistics, CHI-squared test, SLEEP apnea syndromes, AGE factors in disease, RESEARCH funding, METROPOLITAN areas, BODY mass index, DATA analysis software, COMORBIDITY, INTELLECTUAL disabilities, LONGITUDINAL method, DISEASE complications, CHILDREN, ADOLESCENCE
Abstract

The rising prevalence of paediatric type 2 diabetes (T2D) is concerning, particularly with limited medical intervention despite evidence of accelerated disease progression. This study of a Barts Health NHS Trust cohort from 2008 to 2022 aims to elucidate the incidence, clinical outcomes, and complications associated with paediatric T2D. A retrospective analysis utilising electronic and paper records identified 40 patients with T2D. The incidence doubled from 2.6/year in 2008–2013 to 5.4/year in 2014–2018. Sixty-eight percent exhibited co-morbidities, notably learning disabilities. At diagnosis, the mean BMI was 32.4 ± 6.71 kg/m2, with no gender-based disparity and no significant change over a two-year follow-up. The initial HbA1c was 75.2 ± 21.0 mmol/mol, decreasing to 55.0 ± 17.4 mmol/mol after three months (p = 0.001) and then rising to 63.0 ± 25.5 mmol/mol at one year (p = 0.07). While 22/37 patients achieved HbA1c < 48 mmol/mol, only 9 maintained this for a year. Several metabolic and cardiovascular complications were observed at diagnosis and follow-up, with no significant change in frequency. In 2022, 15 patients transitioned to adult services. HbA1c at transition was 74.7 ± 27.6 mmol/mol, showing no change one year post-transition (71.9 ± 26.9 mmol/mol, p = 0.34). This study highlights substantial therapeutic failure, with current management falling short in achieving a sustained reduction in BMI or HbA1c. Novel treatment approaches are needed to improve clinical outcomes and address the high burden of co-morbidities and complications. [ABSTRACT FROM AUTHOR]

Published
2024
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11. Contributors

Author

Achermann, John C., primary, Aiello, Lloyd P., additional, Alexander, Erik K., additional, Allen, Rebecca H., additional, Altshuler, David, additional, Anderson, Mark S., additional, Atkinson, Mark A., additional, Bahn, Rebecca S., additional, Barker, Jennifer M., additional, Basson, Rosemary, additional, Berga, Sarah L., additional, Bhasin, Shalender, additional, Birnbaum, Morris J., additional, Black, Dennis M., additional, Bose, Anirban, additional, Boulton, Andrew J.M., additional, Braunstein, Glenn D., additional, Bremner, William J., additional, Brent, Gregory A., additional, Bringhurst, F. Richard, additional, Brownlee, Michael, additional, Bulun, Serdar E., additional, Burant, Charles F., additional, Bushinsky, David A., additional, Cone, Roger D., additional, Cooke, David W., additional, Cooper, Mark E., additional, Cryer, Philip E., additional, Dattani, Mehul T., additional, Davies, Terry F., additional, de Paula, Francisco J.A., additional, Demay, Marie B., additional, DiVall, Sara A., additional, Elmquist, Joel K., additional, Filetti, Sebastiano, additional, Gevers, Evelien F., additional, Ghigo, Ezio, additional, Goldberg, Anne C., additional, Goldberg, Ira J., additional, Gottlieb, Peter A., additional, Grinspoon, Steven K., additional, Grumbach, Melvin M., additional, Hay, Ian D., additional, Hayes, Frances J., additional, Hickey, Martha, additional, Hirschhorn, Joel N., additional, Ho, Ken K.Y., additional, Hughes, Ieuan A., additional, Kaiser, Ursula, additional, Kaunitz, Andrew M., additional, Klein, Samuel, additional, Kleinberg, David, additional, Kronenberg, Henry M., additional, Lamberts, Steven W.J., additional, Lanfranco, Fabio, additional, Larsen, P. Reed, additional, Laurberg, Peter, additional, Lazar, Mitchell A., additional, Loriaux, Lynn, additional, Low, Malcolm J., additional, Majithia, Amit R., additional, Marx, Stephen J., additional, Matsumoto, Alvin M., additional, Melmed, Shlomo, additional, Monk, Rebeca D., additional, Murray, Robert D., additional, Newell-Price, John D.C., additional, Nitsche, Joshua F., additional, Öberg, Kjell, additional, Plutzky, Jorge, additional, Polonsky, Kenneth S., additional, Radovick, Sally, additional, Robinson, Alan G., additional, Romijn, Johannes A., additional, Rosen, Clifford J., additional, Salvatore, Domenico, additional, Schlumberger, Martin-Jean, additional, Semenkovich, Clay F., additional, Sluss, Patrick M., additional, Stewart, Paul M., additional, Strasburger, Christian J., additional, Styne, Dennis M., additional, van den Beld, Annewieke W., additional, Vella, Adrian, additional, Verbalis, Joseph G., additional, Vinik, Aaron I., additional, Weetman, Anthony P., additional, Wells, Samuel A., additional, and Young, William F., additional

Published
2016
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14. Contributors

Author

Aiello, Lloyd Paul, primary, Alatzoglou, Kyriaki S., additional, Alexander, Erik K., additional, Allan, Carolyn A., additional, Allolio, Bruno, additional, Amino, Nobuyuki, additional, Anawalt, Bradley D., additional, Angelos, Peter, additional, Arboleda, Valerie A., additional, Auchus, Richard J., additional, Axelrod, Lloyd, additional, Bahn, Rebecca S., additional, Baker, MD, PhD, FRACP, H.W. Gordon, additional, Barak, Shlomi, additional, Barnes, Randall B., additional, Barthel, Andreas, additional, Bastepe, Murat, additional, Beardsley, Emma K., additional, Beck-Peccoz, Paolo, additional, Bell, Graeme I., additional, Bi, Wenya Linda, additional, Bilezikian, John P., additional, Blum, Manfred, additional, Bonnema, Steen J., additional, Bornstein, Stefan R., additional, Bouillon, Roger, additional, Boulton, Andrew J.M., additional, Braunstein, Glenn D., additional, Bringhurst, F. Richard, additional, Broekmans, Frank J., additional, Bronstein, Marcello D., additional, Brown, Edward M., additional, Brown, Wendy A., additional, Bulun, Serdar E., additional, Burch, Henry B., additional, Burger, Henry G., additional, Burney, Richard O., additional, Burt, Morton G., additional, Cagliero, Enrico, additional, Callender, Glenda G., additional, Avancini Caramori, Maria Luiza, additional, Carey, Robert M., additional, Carling, Tobias, additional, Cavagnini, Francesco, additional, Cavallerano, Jerry D., additional, Challet, Etienne, additional, Chan, Shu Jin, additional, Chang, R. Jeffrey, additional, Chapurlat, Roland D., additional, Chatterjee, V. Krishna, additional, Chiofalo, Francesco, additional, Chiovato, Luca, additional, Cho, Kyung J., additional, Christison-Lagay, Emily, additional, Christophe, Daniel, additional, Chrousos, George P., additional, Cidlowski, John A., additional, Clemmons, David R., additional, Considine, Robert V., additional, Conti, Marco, additional, Copinschi, Georges, additional, Copps, Kyle D., additional, Cowley, Michael A., additional, Cuttler, Leona, additional, Dattani, Mehul T., additional, Davis, Stephen N., additional, De Felice, Mario, additional, De Groot, Leslie J., additional, de Kretser, David M., additional, DeFronzo, Ralph A., additional, Delli, Ahmed J., additional, Demay, Marie B., additional, Dennedy, Michael C., additional, Di Lauro, Roberto, additional, Dineen, Rosemary, additional, Ding, Su Ann, additional, Dinneen, Sean F., additional, Drucker, Daniel J., additional, Dumont, Jacques E., additional, Dungan, Kathleen M., additional, Dunn, Ian F., additional, Econs, Michael J., additional, Ehrmann, David A., additional, Eisenhofer, Graeme, additional, Ergun-Longmire, Berrin, additional, Eugster, Erica A., additional, Farooqi, Sadaf I., additional, Fassnacht, Martin, additional, Fauser, Bart C.J.M., additional, Fenzi, Gianfranco, additional, Ferrannini, Ele, additional, Findlay, David M., additional, Finlayson, Courtney Anne, additional, Fisher, Delbert A., additional, Francis, Isaac R., additional, Freeman, Mason W., additional, Frohman, Lawrence A., additional, Frydenberg, Mark, additional, Fuller, Peter J., additional, Gaglia, Jason L., additional, Galizia, Gianluigi, additional, Gardella, Thomas J., additional, Garvey, Katharine C., additional, Genant, Harry K., additional, German, Michael S., additional, Gevers, Evelien F., additional, Giraldi, Francesca Pecori, additional, Giudice, Linda C., additional, Giustina, Andrea, additional, Glasier, Anna, additional, Glorieux, Francis H., additional, Goldfine, Allison B., additional, Gooren, Louis J., additional, Gordon, David F., additional, Gregerson, Karen A., additional, Grogan, Raymon H., additional, Gross, Milton D., additional, Grossman, Ashley B., additional, Gruber, Matthias, additional, Guimarães, Valeria C., additional, Gurnell, Mark, additional, Haddad, Nadine G., additional, Haisenleder, Daniel J., additional, Handelsman, David J., additional, Hanks, John B., additional, Hannon, Mark J., additional, Harno, Erika, additional, Hebrok, Matthias, additional, Hedger, Mark P., additional, Hegedüs, Laszlo, additional, Heindel, Jerrold J., additional, Hernandez, Arturo, additional, Herndon, Maria K., additional, Ho, Ken K.Y., additional, Horseman, Nelson D., additional, Hughes, Ieuan A., additional, Hupfeld, Christopher J., additional, Hussain, Hero K., additional, Iodice, Valeria, additional, James, Benjamin C., additional, Jameson, J. Larry, additional, Jones, Glenville, additional, Josso, Nathalie, additional, Jüppner, Harald, additional, Juszczak, Agata, additional, Kalish, Jeffrey, additional, Kaplan, Edwin L., additional, Karavitaki, Niki, additional, Karczewska-Kupczewska, Monika, additional, Khattab, Ahmed, additional, Klein, David C., additional, Klein, Ronald, additional, Kleinau, Gunnar, additional, Koontz, Michaela, additional, Kopchick, John J., additional, Kopp, Peter, additional, Kowalska, Irina, additional, Krane, Stephen M., additional, Krohn, Knut, additional, Kronenberg, Henry M., additional, Lamos, Elizabeth M., additional, Lania, Andrea, additional, Lau, Sue Lynn, additional, Laws, Edward R., additional, Lazarus, John H., additional, Learoyd, Diana L., additional, Lebovitz, Harold E., additional, Lenmark, Åke, additional, List, Edward O., additional, Loveland, Kate, additional, Low, David A., additional, Macchia, Paolo E., additional, Maclaren, Noel K., additional, Madeiros-Neto, Geraldo, additional, Maenhaut, Carine, additional, Maes, Christa, additional, Main, Katharina M., additional, Malchoff, Carl D., additional, Malchoff, Diana M., additional, Malik, Rayaz A., additional, Mandel, Susan J., additional, Mantzoros, Christos S., additional, Maratos-Flier, Eleftheria, additional, Marino, Michele, additional, Marshall, John C., additional, Martin, T. John, additional, Martin, Thomas F.J., additional, Mathias, Christopher J., additional, McGee, Elizabeth A., additional, McKenzie, Travis, additional, McLachlan, Robert I., additional, Meier, Juris J., additional, Melmed, Shlomo, additional, Metzger, Boyd E., additional, Meyer-Bahlburg, Heino F.L., additional, Millar, Robert P., additional, Miller, Walter L., additional, Misra, Madhusmita, additional, Molitch, Mark E., additional, Moravek, Molly B., additional, Morris, Damian G., additional, Nagar, Sapna, additional, Nakamoto, Jon, additional, New, Maria I., additional, Nieman, Lynnette K., additional, Nilson, John H., additional, Ntali, Georgia, additional, O’Bryan, Moira, additional, O’Rahilly, Stephen, additional, Öberg, Kjell, additional, Olefsky, Jerrold M., additional, Olson, Matthew T., additional, Pacak, Karel, additional, Pacini, Furio, additional, Padia, Shetal H., additional, Paschke, Ralf, additional, Pasquel, Francisco J., additional, Perry, Katherine Wesseling, additional, Persani, Luca, additional, Philipson, Louis H., additional, Pina, Christian, additional, Pomposelli, Frank B., additional, Potts, John T., additional, Quigley, Charmian A., additional, Quinkler, Marcus O., additional, Quirk, Christine Campion, additional, Rajpert-De Meyts, Ewa, additional, Ravussin, Eric, additional, Ray, David W., additional, Refetoff, Samuel, additional, Retnakaran, Ravi, additional, Rey, Rodolfo A., additional, Rhodes, Christopher J., additional, Ridgway, E. Chester, additional, Risbridger, Gail P., additional, Rizza, Robert A., additional, Robinson, Bruce G., additional, Roger, Pierre P., additional, Rosenfeld, Michael G., additional, Rosenfield, Robert L., additional, Rossing, Peter, additional, Rubin, Robert T., additional, Rubio, Ileana G.S., additional, Ruderman, Neil B., additional, Russo, Jose, additional, Russo, Irma H., additional, Salusky, Isidro B., additional, Santoro, Nanette, additional, Scully, Kathleen M., additional, Sexton, Patrick M., additional, Shulman, Gerald I., additional, Silva, Paolo S., additional, Silverberg, Shonni J., additional, Singer, Frederick R., additional, Skakkebaek, Niels E., additional, Skaznik-Wikiel, Malgorzata E., additional, Skowronska-Krawczyk, Dorota, additional, Smith, Carolyn L., additional, Smith, Philip W., additional, Smith, Roger, additional, Smith, Steven R., additional, Snyder, Peter J., additional, St. Germain, Donald L., additional, St-Arnaud, René, additional, Steiner, Donald F., additional, Stewart, Paul M., additional, Strączkowski, Marek, additional, Strauss, Jerome F., additional, Styne, Dennis M., additional, Swan, Karena L., additional, Swerdloff, Ronald S., additional, Tacon, Lyndal J., additional, Tello, Javier A., additional, Thakker, Rajesh V., additional, Thompson, Christopher J., additional, Timmers, Henri J.L.M., additional, Toppari, Jorma, additional, Traub, Michael L., additional, Tsoukas, Michael A., additional, Udelsman, Robert, additional, Umpierrez, Guillermo E., additional, Van den Berghe, Greet, additional, Vassart, Gilbert, additional, Vernon, Ashley H., additional, Vilain, Eric, additional, Visser, Theo J., additional, Vitti, Paolo, additional, Walford, Geoffrey A., additional, Wang, Christina, additional, Weetman, Anthony P., additional, Weigel, Nancy L., additional, Weir, Gordon C., additional, Weiss, Roy E., additional, White, Anne, additional, White, Kenneth E., additional, White, Morris F., additional, Whyte, Michael P., additional, Wiersinga, Wilmar M., additional, Willenberg, Holger S., additional, Wolfsdorf, Joseph I., additional, Wondisford, Fredric E., additional, Wong, Ka Kit, additional, Wysolmerski, John J., additional, Yau, Mabel, additional, Young, Morag J., additional, Younk, Lisa M., additional, Yu, Run, additional, Yuen, Tony, additional, Zeiger, Martha A., additional, Zinman, Bernard, additional, and Zoeller, R. Thomas, additional

Published
2016
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16. PTH Infusion for Seizures in Autosomal Dominant Hypocalcemia Type 1

Author

Sastre, Ana, primary, Valentino, Kevin, additional, Hannan, Fadil M., additional, Lines, Kate E., additional, Gluck, Anna K., additional, Stevenson, Mark, additional, Ryalls, Michael, additional, Gorrigan, Rebecca J., additional, Pullen, Debbie, additional, Buck, Jackie, additional, Sankaranarayanan, Sailesh, additional, Allgrove, Jeremy, additional, Thakker, Rajesh V., additional, and Gevers, Evelien F., additional

Published
2021
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17. Health Status of Children and Young Persons With Congenital Adrenal Hyperplasia in the United Kingdom: Results of a Multi-Center Cohort Study

Author

Bacila, Irina-Alexandra, primary, Lawrence, Neil, additional, Mahdi, Sundus, additional, Alvi, Sabah, additional, Cheetham, Timothy, additional, Crowne, Elizabeth, additional, Das, Urmi, additional, Dattani, Mehul, additional, Davies, Justin H, additional, Gevers, Evelien F, additional, Krone, Ruth, additional, Kyriakou, Andreas, additional, Patel, Leena, additional, Randell, Tabitha, additional, Ryan, Fiona, additional, Ahmed, S Faisal, additional, and Krone, Nils Peter, additional

Published
2021
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18. The effect of different patterns of growth hormone administration on the IGF axis and somatic and skeletal growth of the dwarf rat

Author

Westwood, Melissa, Maqsood, Arfa R., Solomon, Mattea, Whatmore, Andrew J., Davis, Julian R.E., Baxter, Robert C., Gevers, Evelien F., Robinson, Iain C.A.F., and Clayton, Peter E.

Subjects
Dwarfism -- Care and treatment, Dwarfism -- Research, Insulin-like growth factors -- Health aspects, Insulin-like growth factors -- Research, Somatotropin -- Physiological aspects, Somatotropin -- Health aspects, Somatotropin -- Research, Biological sciences
Abstract

Normal childhood growth is determined by ultradian and infradian variations in GH secretion, yet GH treatment of children with short stature is restricted to daily fixed doses. We have used GH-deficient dwarf rats to determine whether variable GH dose regimens promote growth more effectively than fixed doses. Animals were treated with saline or 4.2 mg of recombinant bovine GH given as 1) 700 [micro]g/wk in 100 [micro]g/day doses, 2) alternating weekly doses of 966 (138 [micro]g/day) or 434 [micro]g (62 [micro]g/day), or 3) 700 [micro]g/wk in randomized daily doses (5-250 [micro]g/day). Body weight and length were measured weekly. Femur and tibia lengths and internal organ, fat pad, and muscle weights were recorded at the end of the study (6 wk); blood was collected for IGF axis measurements. GH promoted femur [F(3,60) = 14.67, P < 0.05], tibia [F(3,60) = 14.90, P < 0.05], muscle [F(3,60) = 10.37, P < 0.05], and organ growth [liver: F(3,60) = 9.30, P < 0.05; kidney: F(3,60) = 2.82, P < 0.05] and an increase in serum IGF-I[F(3,60) = 9.18, P < 0.05] and IGFBP-3 [F(3,60) = 6.70, P < 0.05] levels. IGF-I levels correlated with final weight (r = 0.45, P < 0.05) and length (r = 0.284, P < 0.05) in the whole cohort, but within each group, growth parameters correlated with serum IGF-I only in animals treated with random GH doses. The variable regimens promoted femur length (P < 0.05) and muscle (P < 0.05) and kidney (P < 0.05) weight more effectively than treatment with the fixed regimen. This study demonstrates that aspects of growth are improved following introduction of infradian variation to GH treatment in a GH-deficient model. The data suggest that varying the pattern of GH doses administered to children may enhance growth performance without increasing the overall GH dose. insulin-like growth factor; growth hormone deficiency; infradian; insulin-like growth factor-binding protein; acid-labile subunit doi:10.1152/ajpendo.00234.2009.

Published
2010

20. Adiposity profile in the dwarf rat: an unusually lean model of profound growth hormone deficiency

Author

Davies, Jeffrey S., Gevers, Evelien F., Stevenson, Amy E., Coschigano, Karen T., El-Kasti, M., Bull, Melanie J., Elford, Carole, Evans, Bronwen A.J., Kopchiek, John J., and Wells, Timothy

Subjects
Adipose tissues -- Research, Fat metabolism -- Research, Metabolic regulation -- Research, Leptin -- Research, Physiological research, Biological sciences
Abstract

This study describes the previously uncharacterized ontogeny and regulation of truncal adipose reserves in the profoundly GH-deficient dwarf (dw/dw) rat. We show that, despite normal proportionate food intake, dw/dw rats develop abdominal leanness and hypoleptinemia (circulating leptin halved in dw/dw males, P < 0.05) during puberty. This contrasts with the hyperleptinemia seen in moderately GH-deficient Tgr rats (circulating leptin doubled at 6 wk of age, P < 0.05) and in GH receptor-binding protein (GHR/BP)-null mice (circulating leptin doubled; P < 0.05). This lean/hypoleptinemic phenotype was not completely normalized by GH treatment, but dw/dw rats developed abdominal obesity in response to neonatal MSG treatment or maintenance on a high-fat diet. Unlike Tgr rats, dw/dw rats did not become obese with age; plasma leptin levels and fat pad weights became similar to those in wild-type rats. In contrast with truncal leanness, tibial marrow adiposity was normal in male and doubled in female dwarves (P < 0.01), this increase being attributable to increased adipocyte number (P < 0.01). Neonatal MSG treatment and high-fat feeding elevated marrow adiposity in dw/dw rats by inducing adipocyte enlargement (P < 0.05). These results demonstrate that, despite lipolytic influence of GH, severe GH deficiency in dw/dw rats is accompanied by a paradoxical leanness. This lean/hypoleptinemic phenotype is not solely attributable to reduced GH signaling and does not appear to result from a reduction in nutrient intake or the ability of dw/dw adipocytes to accumulate lipid. Disruption of preadipocyte differentiation or adipocyte proliferation in the dw/dw rat may lead to the development of this unusually lean/hypoleptinemic phenotype. adipose tissue; bone marrow fat; leptin; dwarfism doi:10.1152/ajpendo.00417.2006

Published
2007

21. Pituitary

Author

Gevers, Evelien F., primary, Gaston-Massuet, Carles, additional, and Dattani, Mehul T., additional

Published
2013
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22. Pituitary

Author

Gevers, Evelien F., primary, Gaston-Massuet, Carles, additional, and Dattani, Mehul T., additional

Published
2012
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36. A novel clinical risk score that accurately predicts recurrence of craniopharyngioma - a multicentre cohort study

Author

Kyprianou, Nikolina, primary, Blackburn, James, additional, Tan, Rachael, additional, Korbonits, Marta, additional, Dattani, Mehul, additional, Dutta, Pinaki, additional, Bhansali, Anil, additional, Rai, Ashutosh, additional, Ribalta, Teresa, additional, Bulfamante, Gaetano Pietro, additional, Massa, Valentina, additional, Roncaroli, Federico, additional, Evanson, Jane, additional, Skoric, Tanja, additional, Kastelan, Darko, additional, Gnanalingham, Kanna, additional, Mitchell, Rod, additional, Bulfamante, Antonio Mario, additional, Argente, Jesus, additional, Goycoolea, Andres, additional, Torales, Jorge, additional, Biagetti, Betina, additional, Audi, Laura, additional, Resmini, Eugenia, additional, Webb, Susan M, additional, Kapoor, Ritika R, additional, Chandler, Christopher, additional, Sampron, Nicolas, additional, Preda, Cristina, additional, Ahmad, Amar, additional, Gevers, Evelien F Pease, additional, and Gaston-Massuet, Carles, additional

Published
2019
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37. Efficacy and Safety of Oxandrolone in Growth Hormone-Treated Girls with Turner Syndrome

Author

Menke, Leonie A., Sas, Theo C. J., de Muinck Keizer-Schrama, Sabine M. P. F., Zandwijken, Gladys R. J., de Ridder, Maria A. J., Odink, Roelof J., Jansen, Maarten, Delemarre-van de Waal, Henriëtte A., Stokvis-Brantsma, Wilhelmina H., Waelkens, Johan J., Westerlaken, Ciska, Reeser, H. Maarten, van Trotsenburg, A. S. Paul, Gevers, Evelien F., van Buuren, Stef, DeJonckere, Philippe H., Hokken-Koelega, Anita C. S., Otten, Barto J., and Wit, Jan M.

Published
2010

40. Females secrete growth hormone with more process irregularity than males in both humans and rats

Author

Pincus, Steven M., Gevers, Evelien F., Robinson, Iain C.A., Berg, Gerrit van den, Roelfsema, Ferdinand, Hartman, Mark L., and Veldhuis, Johannes D.

Subjects
Somatotropin -- Research, Sex differences -- Observations, Secretion -- Regulation, Biological sciences
Abstract

Episodic secretion of growth hormone (GH) is more irregular in females in comparison to males in humans and rats, indicating gender based differences in regulation of GH secretion. There is no gender difference in GH secretion regularity in the immunoradiometric assay of subjects who have fasted. A testosterone effect in males may produce regularity in the secretion of somatostatin, which is responsible for GH periodicity. The effect is less prominent in females and during fasting. The difference appears to occur broadly in higher animals and is readily determined by an approximate entropy analysis.

Published
1996

42. Pituitary and Neuroendocrinology

Author

Gevers Evelien F, Carles Gaston-Massuet, and Roux Nicolas de

Subjects
medicine.medical_specialty, Endocrinology, Mechanism (biology), Internal medicine, medicine, Disease, Stem cell, Neuroendocrinology, Biology, Bioinformatics, Gene, humanities
Abstract

In the pituitary field, stem cells are a hot topic and some outstanding papers have increased our knowledge of pituitary stem cells. This year’s chapter also includes several papers with new genes involved in hypothalamic and pituitary syndromes. However, whereas in previous years, the function of genes found to be associated with pituitary and neuroendocrine disease was clear, we now seem to have entered the era where mutations are found in genes whose function is not known, or the mechanism for the disease is not clear.

Published
2018

44. Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells.

Author

Ruiz-Babot, Gerard, Balyura, Mariya, Hadjidemetriou, Irene, Ajodha, Sharon J, Taylor, David R, Ghataore, Lea, Taylor, Norman F, Schubert, Undine, Ziegler, Christian G, Storr, Helen L, Druce, Maralyn R, Gevers, Evelien F, Drake, William M, Srirangalingam, Umasuthan, Conway, Gerard S, King, Peter J, Metherell, Louise A, Bornstein, Stefan R, Guasti, Leonardo, Ruiz-Babot, Gerard, Balyura, Mariya, Hadjidemetriou, Irene, Ajodha, Sharon J, Taylor, David R, Ghataore, Lea, Taylor, Norman F, Schubert, Undine, Ziegler, Christian G, Storr, Helen L, Druce, Maralyn R, Gevers, Evelien F, Drake, William M, Srirangalingam, Umasuthan, Conway, Gerard S, King, Peter J, Metherell, Louise A, Bornstein, Stefan R, and Guasti, Leonardo

Abstract

Adrenal insufficiency is managed by hormone replacement therapy, which is far from optimal; the ability to generate functional steroidogenic cells would offer a unique opportunity for a curative approach to restoring the complex feedback regulation of the hypothalamic-pituitary-adrenal axis. Here, we generated human induced steroidogenic cells (hiSCs) from fibroblasts, blood-, and urine-derived cells through forced expression of steroidogenic factor-1 and activation of the PKA and LHRH pathways. hiSCs had ultrastructural features resembling steroid-secreting cells, expressed steroidogenic enzymes, and secreted steroid hormones in response to stimuli. hiSCs were viable when transplanted into the mouse kidney capsule and intra-adrenal. Importantly, the hypocortisolism of hiSCs derived from patients with adrenal insufficiency due to congenital adrenal hyperplasia was rescued by expressing the wild-type version of the defective disease-causing enzymes. Our study provides an effective tool with many potential applications for studying adrenal pathobiology in a personalized manner and opens venues for the development of precision therapies.

Published
2018

45. Factors predicting poor glycemic control in the first two years of childhood onset type 1 diabetes in a cohort from East London, UK: Analyses using mixed effects fractional polynomial models.

Author

Mazarello Paes, Veena, Barrett, Jessica K., Dunger, David B., Gevers, Evelien F., Taylor‐Robinson, David C., Viner, Russell M., and Stephenson, Terence J.

Subjects
TYPE 1 diabetes, GLYCEMIC control
Abstract

Background/Objective: Poor early glycemic control in childhood onset type 1 diabetes (T1D) is associated with future risk of acute and chronic complications. Our aim was to identify the predictors of higher glycated hemoglobin (HbA1c) within 24 months of T1D diagnosis in children and adolescents. Methods: Mixed effects models with fractional polynomials were used to analyze longitudinal data of patients <19 years of age, followed from T1D diagnosis for up to 2 years, at three diabetes clinics in East London, United Kingdom. Results: A total of 2209 HbA1c observations were available for 356 patients (52.5% female; 64.4% non‐white), followed from within 3 months of diagnosis during years 2005 to 2015, with a mean ± SD of 6.2 ± 2.5 HbA1c observations/participant. The mean age and HbA1c at diagnosis were 8.9 ± 4.3 years and 10.7% ±4.3% (or expressed as mmol/mol HbA1c mean ± SD 92.9 ± 23.10 mmol/mol) respectively. Over the 2 years following T1D diagnosis, HbA1c levels were mostly above the National Institute for Health, Care and Excellence (NICE), UK recommendations of 7.5% (<58 mmol/mol). Significant (P <.05) predictors of poorer glycemic control were: Age at diagnosis (12‐18 years), higher HbA1c at baseline (>9.5%, ie, >80 mmol/mol), clinic site, non‐white ethnicity, and period (pre‐year 2011) of diagnosis. Additionally in univariable analyses, frequency of clinic visits, HbA1c at diagnosis, and type of insulin treatment regimen showed association with poor glycemic control (P <.05). Conclusions: Major risk factors of poorer glycemic control during 3‐24 months following childhood onset T1D are: diagnosis prior to 2011, higher HbA1c levels at baseline, age at diagnosis, non‐white ethnicity, and clinic site. [ABSTRACT FROM AUTHOR]

Published
2020
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48. Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation

Author

Klammt, Jürgen, primary, Neumann, David, additional, Gevers, Evelien F., additional, Andrew, Shayne F., additional, Schwartz, I. David, additional, Rockstroh, Denise, additional, Colombo, Roberto, additional, Sanchez, Marco A., additional, Vokurkova, Doris, additional, Kowalczyk, Julia, additional, Metherell, Louise A., additional, Rosenfeld, Ron G., additional, Pfäffle, Roland, additional, Dattani, Mehul T., additional, Dauber, Andrew, additional, and Hwa, Vivian, additional

Published
2018
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49. Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells

Author

Ruiz-Babot, Gerard, primary, Balyura, Mariya, additional, Hadjidemetriou, Irene, additional, Ajodha, Sharon J., additional, Taylor, David R., additional, Ghataore, Lea, additional, Taylor, Norman F., additional, Schubert, Undine, additional, Storr, Helen L., additional, Druce, Maralyn R., additional, Gevers, Evelien F., additional, Drake, William M., additional, Srirangalingam, Umasuthan, additional, Conway, Gerard S., additional, King, Peter J., additional, Metherell, Louise A., additional, Bornstein, Stefan R., additional, and Guasti, Leonardo, additional

Published
2018
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50. Contributors

Author

Achermann, John C., Ahmann, Andrew J., Aiello, Lloyd P., Alexander, Erik K., Allen, Rebecca H., Anawalt, Bradley D., Anderson, Mark S., Arbeláez, Ana María, Atkinson, Mark A., Auchus, Richard J., Barker, Jennifer M., Basson, Rosemary, Berga, Sarah L., Bhadada, Sanjay K., Bhan, Arti, Bhasin, Shalender, Black, Dennis M., Boulton, Andrew J.M., Braunstein, Glenn D., Brennan, Annabelle, Brent, Gregory A., Bringhurst, F. Richard, Brito, Juan P., Brown, Todd T., Brownlee, Michael, Bulun, Serdar E., Bushinsky, David A., Carter-Su, Christin, Chan, Yee-Ming, Cohen, Ronald, Cooke, David W., Cooper, Mark E., Cousin, Ewerton, Cryer, Philip E., Dassau, Eyal, Dattani, Mehul T., de Paula, Francisco J.A., Demay, Marie B., DiVall, Sara A., Duncan, Bruce B., Feldman, Eva L., Ferrannini, Ele, Ferris, Heather A., Filetti, Sebastiano, Franco, Laercio J., Gevers, Evelien F., Ghigo, Ezio, Goldberg, Ira J., Goldfine, Allison B., Gottlieb, Peter A., Grinspoon, Steven K., Hannema, Sabine E., Hayes, Frances J., Hickey, Martha, Hirschorn, Joel. N., Ho, Ken, Hollenberg, Anthony, Hughes, Ieuan A., Kahn, C. Ronald, Kaiser, Ursula, Katugampola, Harshini, Kaunitz, Andrew M., Koenig, Ronald J., Kopp, Peter A., Kronenberg, Henry M., Laffel, Lori, Lamberts, Steven W.J., Lanfranco, Fabio, Larsen, P. Reed, Leboulleux, Sophie, Lechan, Ronald M., Majithia, Amit R., Maraka, Spyridoula, Maratos-Flier, Eleftheria, Mari, Andrea, Matsumoto, Alvin M., McGill, Dayna E., Melmed, Shlomo, Montori, Victor, Myers, Martin G., Jr., Newell-Price, John D.C., Newey, Paul J., Nitsche, Joshua F., Öberg, Kjell, Olson, David P., O’Neill, Brian T., Ospina, Naykky Singh, Plutzky, Jorge, Polonsky, Kenneth S., Radovick, Sally, Rao, Ajay D., Rao, Sudhaker D., Riddle, Matthew C., Rodriguez-Gutierrez, Rene, Rosen, Clifford J., Rosen, Evan D., Rosenthal, Stephen M., Salama, Mahmoud, Salvatore, Domenico, Sandler, Victoria, Schmidt, Maria Inês, Semenkovich, Clay F., Sluss, Patrick M., Strasburger, Christian J., Styne, Dennis M., Sun, Jennifer K., Tangpricha, Vin, Thakker, Rajesh V., Thomas, Robert L., Thompson, Christopher J., Tuttle, R. Michael, van den Beld, Annewieke W., Verbalis, Joseph G., Weetman, Anthony P., Wiersinga, Wilmar M., Woodruff, Teresa K., and Young, William F., Jr.

Published
2020
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