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1. Brain morphometry and estimation of aging brain in subjects with congenital untreated isolated GH deficiency

Author

Villar-Gouy, Keila R., Salmon, Carlos Ernesto Garrido, Salvatori, Roberto, Kellner, Michael, Krauss, Miriam P. O., Rocha, Tâmara O., de Souza, Erick Almeida, Batista, Vanderlan O., Leal, Ângela C., Santos, Lucas B., Melo, Enaldo V., Oliveira-Santos, Alécia A., Oliveira, Carla R. P., Campos, Viviane C., Santos, Elenilde G., Santana, Nathalie O., Pereira, Francisco A., Amorim, Rivia S., Donato-Junior, José, Filho, José Augusto Soares Barreto, Santos, Antonio Carlos, and Aguiar-Oliveira, Manuel H.

Published
2024
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2. Skin assessment in congenital untreated isolated GH deficiency

Author

Barros-Oliveira, Cynthia S., de Jesus, Maria Joseli Melo, Campos, Viviane C., Salvatori, Roberto, de Souza Araújo, Adriano Antunes, Neto, Roberto Fernandes Soares, Bartke, Andrzej, Batista, Vanderlan O., Schneider, Augusto, Villar-Gouy, Keila R., Masternak, Michal M., Leal, Ângela C., Santos, Lucas B., Oliveira, Carla R. P., Santos, Elenilde G., Oliveira Simões, Davi A., de Santana Silva, Bruno, and Aguiar-Oliveira, Manuel H.

Published
2024
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4. Diagnosis and management of prolactin-secreting pituitary adenomas: a Pituitary Society international Consensus Statement

Author

Petersenn, Stephan, Fleseriu, Maria, Casanueva, Felipe F., Giustina, Andrea, Biermasz, Nienke, Biller, Beverly M. K., Bronstein, Marcello, Chanson, Philippe, Fukuoka, Hidenori, Gadelha, Monica, Greenman, Yona, Gurnell, Mark, Ho, Ken K. Y., Honegger, Jürgen, Ioachimescu, Adriana G., Kaiser, Ursula B., Karavitaki, Niki, Katznelson, Laurence, Lodish, Maya, Maiter, Dominique, Marcus, Hani J., McCormack, Ann, Molitch, Mark, Muir, Christopher A., Neggers, Sebastian, Pereira, Alberto M., Pivonello, Rosario, Post, Kalmon, Raverot, Gerald, Salvatori, Roberto, Samson, Susan L., Shimon, Ilan, Spencer-Segal, Joanna, Vila, Greisa, Wass, John, and Melmed, Shlomo

Published
2023
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5. Levoketoconazole treatment in endogenous Cushings syndrome: extended evaluation of clinical, biochemical, and radiologic outcomes.

Author

Fleseriu, Maria, Auchus, Richard, Greenman, Yona, Zacharieva, Sabina, Geer, Eliza, Salvatori, Roberto, Pivonello, Rosario, Feldt-Rasmussen, Ulla, Kennedy, Laurence, Buchfelder, Michael, Biller, Beverly, Cohen, Fredric, and Heaney, Anthony

Subjects
Humans, Adrenal Insufficiency, Cushing Syndrome, Enzyme Inhibitors, Hydrocortisone, Pituitary ACTH Hypersecretion, Somatostatin, Treatment Outcome
Abstract

OBJECTIVE: This extended evaluation (EE) of the SONICS study assessed the effects of levoketoconazole for an additional 6 months following open-label, 6-month maintenance treatment in endogenous Cushings syndrome. DESIGN/METHODS: SONICS included dose-titration (150-600 mg BID), 6-month maintenance, and 6-month EE phases. Exploratory efficacy assessments were performed at months 9 and 12 (relative to the start of maintenance). For pituitary MRI in patients with Cushings disease, a threshold of ≥2 mm denoted change from baseline in the largest tumor diameter. RESULTS: Sixty patients entered EE at month 6; 61% (33/54 with data) exhibited normal mean urinary free cortisol (mUFC). At months 9 and 12, respectively, 55% (27/49) and 41% (18/44) of patients with data had normal mUFC. Mean fasting glucose, total and LDL-cholesterol, body weight, BMI, abdominal girth, hirsutism, CushingQoL, and Beck Depression Inventory-II scores improved from the study baseline at months 9 and 12. Forty-six patients completed month 12; four (6.7%) discontinued during EE due to adverse events. The most common adverse events in EE were arthralgia, headache, hypokalemia, and QT prolongation (6.7% each). No patient experienced alanine aminotransferase or aspartate aminotransferase >3× upper limit of normal, Fridericia-corrected QT interval >460 ms, or adrenal insufficiency during EE. Of 31 patients with tumor measurements at baseline and month 12 or follow-up, the largest tumor diameter was stable in 27 (87%) patients, decreased in one, and increased in three (largest increase 4 mm). CONCLUSION: In the first long-term levoketoconazole study, continued treatment through a 12-month maintenance period sustained the early clinical and biochemical benefits in most patients completing EE, without new adverse effects.

Published
2022

6. Function and form of the shoulder in congenital and untreated growth hormone deficiency

Author

Santos, Jr, Hertz T., Silva-Albuquerque, Victor M., Salvatori, Roberto, Melo, Enaldo V., Oliveira-Santos, Alécia A., Oliveira, Carla R. P., Campos, Viviane C., Barros-Oliveira, Cynthia S., Menezes, Nelmo V., Santos, Elenilde G., Pereira, Francisco A., Santana, Nathalie O., Batista, Vanderlan O., Villar-Gouy, Keila R., Oliveira-Neto, Luiz A., and Aguiar-Oliveira, Manuel H.

Published
2023
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9. Author Correction: Diagnosis and management of prolactin-secreting pituitary adenomas: a Pituitary Society international Consensus Statement

Author

Petersenn, Stephan, Fleseriu, Maria, Casanueva, Felipe F., Giustina, Andrea, Biermasz, Nienke, Biller, Beverly M. K., Bronstein, Marcello, Chanson, Philippe, Fukuoka, Hidenori, Gadelha, Monica, Greenman, Yona, Gurnell, Mark, Ho, Ken K. Y., Honegger, Jürgen, Ioachimescu, Adriana G., Kaiser, Ursula B., Karavitaki, Niki, Katznelson, Laurence, Lodish, Maya, Maiter, Dominique, Marcus, Hani J., McCormack, Ann, Molitch, Mark, Muir, Christopher A., Neggers, Sebastian, Pereira, Alberto M., Pivonello, Rosario, Post, Kalmon, Raverot, Gerald, Salvatori, Roberto, Samson, Susan L., Shimon, Ilan, Spencer-Segal, Joanna, Vila, Greisa, Wass, John, and Melmed, Shlomo

Published
2024
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17. Quantitative measures of the vascular and neural components of the retina in adult individuals with congenital and untreated growth hormone deficiency

Author

Menezes, Nelmo V., Barros-Oliveira, Cynthia S., Salvatori, Roberto, Gois, Vinicius C., Marinho, Cindi G., Oliveira, Carla R. P., Campos, Viviane C., Oliveira-Santos, Alécia A., Santos-Júnior, Hertz T., Santos, Elenilde G., Melo, Enaldo V., Faro, Augusto C. N., Oliveira, Neima V., Gumes-Felix, Hérika M., Melo, Gustavo B., and Aguiar-Oliveira, Manuel H.

Published
2022
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18. Dental arches in inherited severe isolated growth hormone deficiency

Author

Girão, Rafaela S., Aguiar-Oliveira, Manuel H., Andrade, Bruna M.R., Bittencourt, Marcos A.V., Salvatori, Roberto, Silva, Evânio V., Santos, André L.M., Cunha, Matheus M., Takeshita, Wilton M., Oliveira, Alaíde H.A., Valença, Eugênia H.O., Oliveira-Santos, Alécia A., and Oliveira-Neto, Luiz A.

Published
2022
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19. Adrenal cysts less than 10 cm can be safely observed.

Author

Rodriguez, Emily, Fedorova, Tatiana, Daskam, Maria, Baraban, Ezra, Foote, Darci C., Salvatori, Roberto, Singla, Nirmish, Fishman, Elliot K., Chen Cardenas, Stanley M., Ball, Douglas W., Hamrahian, Amir H., Mathur, Aarti, and Morris‐Wiseman, Lilah F.

Abstract

Background: Adrenal cysts are rare and appropriate management is unclear due to a lack of data on their natural history. Understanding adrenal cyst growth patterns would assist in clinical management. Methods: This single‐institution study included all adult patients diagnosed with simple adrenal cysts between 2004 and 2021. Baseline characteristics and outcomes of those who underwent resection (ADX) or observation (OBS) were compared using the chi‐squared test, student's t‐test, and Wilcoxon rank‐sum test. Growth curves and sensitivity analysis were plotted for all patients who had follow‐up imaging. Results: We identified 77 patients with imaging‐confirmed adrenal cysts. The majority were female (75.3%) and more than half were white (55.8%). One‐third of patients underwent ADX, and the remaining were observed. ADX patients were younger (median age [IQR]: 55.5 y [45.0–68.2 y] vs. 44.2 y [38.7–55.0 y], p = 0.01) and more likely to be Hispanic (12% vs. 0%, p = 0.05). ADX patients presented with larger cysts (5.6 vs. 2.6 cm, p = 0.002). The median time from diagnosis to last follow‐up was 1.1 y for ADX and 4.1 y for OBS. Average growth for OBS was 0.3 cm/y, while average growth for ADX was 3.9 cm/y. In ADX patients, cysts >10 cm grew significantly faster than cysts <10 cm (median growth rate 13.2 cm/y vs. 0.3 cm/y, p < 0.05). There was no adrenal malignancy diagnosis, hyperfunctionality, or observation‐related complications (e.g., rupture). Conclusion: While size >4–6 cm has guided surgical referral for solid adrenal masses, this study demonstrates a size threshold of 10 cm, below which asymptomatic, simple adrenal cysts can safely be observed. [ABSTRACT FROM AUTHOR]

Published
2024
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20. Consensus on diagnosis and management of Cushing's disease: a guideline update

Author

Fleseriu, Maria, Auchus, Richard, Bancos, Irina, Ben-Shlomo, Anat, Bertherat, Jerome, Biermasz, Nienke R, Boguszewski, Cesar L, Bronstein, Marcello D, Buchfelder, Michael, Carmichael, John D, Casanueva, Felipe F, Castinetti, Frederic, Chanson, Philippe, Findling, James, Gadelha, Mônica, Geer, Eliza B, Giustina, Andrea, Grossman, Ashley, Gurnell, Mark, Ho, Ken, Ioachimescu, Adriana G, Kaiser, Ursula B, Karavitaki, Niki, Katznelson, Laurence, Kelly, Daniel F, Lacroix, André, McCormack, Ann, Melmed, Shlomo, Molitch, Mark, Mortini, Pietro, Newell-Price, John, Nieman, Lynnette, Pereira, Alberto M, Petersenn, Stephan, Pivonello, Rosario, Raff, Hershel, Reincke, Martin, Salvatori, Roberto, Scaroni, Carla, Shimon, Ilan, Stratakis, Constantine A, Swearingen, Brooke, Tabarin, Antoine, Takahashi, Yutaka, Theodoropoulou, Marily, Tsagarakis, Stylianos, Valassi, Elena, Varlamov, Elena V, Vila, Greisa, Wass, John, Webb, Susan M, Zatelli, Maria C, and Biller, Beverly M K

Published
2021
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24. List of contributors

Author

Abreu, Ana Paula, primary, Allora, Agnese, additional, Bashari, Waiel A., additional, Beckers, Albert, additional, Ben-Shlomo, Anat, additional, Bichet, Daniel G., additional, Binart, Nadine, additional, Brière, Jonathan, additional, Bronstein, Marcello D., additional, Brown, Paul D., additional, Chaker, Layal, additional, Chanson, Philippe, additional, Daly, Adrian F., additional, Dekkers, Olaf M., additional, Drouin, Jacques, additional, Fleseriu, Maria, additional, Frara, Stefano, additional, Gadelha, Mônica R., additional, Gaston, Lindsey S., additional, Gillett, Daniel, additional, Giustina, Andrea, additional, Glezer, Andrea, additional, Greenman, Yona, additional, Gurnell, Mark, additional, Herman-Bonert, Vivien S., additional, Kaiser, Ursula B., additional, Karavitaki, Niki, additional, Kasuki, Leandro, additional, Korbonits, Márta, additional, Kovacs, Kalman, additional, Kowalchuk, Roman O., additional, MacFarlane, James, additional, Maiter, Dominique, additional, Majzoub, Joseph A., additional, Mamelak, Adam N., additional, Marques, Pedro, additional, Melmed, Shlomo, additional, Mortini, Pietro, additional, Moshkin, Olga, additional, Paragliola, Rosa Maria, additional, Peeters, Robin P., additional, Pereira, Alberto M., additional, Raverot, Gérald, additional, Rotondo, Fabio, additional, Salvatori, Roberto, additional, Scoffings, Daniel, additional, Sheehan, Jason P., additional, Spina, Alfio, additional, Syro, Luis V., additional, Takahashi, Yutaka, additional, Trifiletti, Daniel M., additional, Varlamov, Elena V., additional, Wass, John A.H., additional, Wildemberg, Luiz Eduardo, additional, and Yamamoto, Masaaki, additional

Published
2022
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25. Prolactin

Author

Paragliola, Rosa Maria, primary, Binart, Nadine, additional, and Salvatori, Roberto, additional

Published
2022
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27. Individuals with isolated congenital GH deficiency due to a GHRH receptor gene mutation appear to cope better with SARS-CoV-2 infection than controls

Author

Melo, Manuela A., Borges, Lysandro P., Salvatori, Roberto, Souza, Daniela R. V., Santos-Júnior, Hertz T., de R. Neto, José. M., Campos, Viviane C., Santos, Aryanne A., Oliveira, Carla R. P., da Invenção, Grazielly B., Batista, Vanderlan O., Matos, Igor L. S., Barros-Oliveira, Cynthia S., dos Santos, Kezia A., Santos, Elenilde G., Souza, Nicolas A. A., Melo, Enaldo V., Borges, Pamela C., Santos, Saulo E. F. S., de Oliveira, Brenda M., Oliveira-Santos, Alécia A., de Jesus, Amélia R., and Aguiar-Oliveira, Manuel H.

Published
2021
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29. Consensus on criteria for acromegaly diagnosis and remission

Author

Giustina, Andrea, Biermasz, Nienke, Casanueva, Felipe F., Fleseriu, Maria, Mortini, Pietro, Strasburger, Christian, van der Lely, A. J., Wass, John, Melmed, Shlomo, Banfi, Giuseppe, Barkan, Ariel, Beckers, Albert, Bidlingmaier, Martin, Boguszewski, Cesar, Brue, Thierry, Buchfelder, Michael, Chanson, Philippe, Chiloiro, Sabrina, Colao, Annamaria, Coopmans, Eva, Esposito, Daniela, Ferone, Diego, Frara, Stefano, Gadelha, Mônica, Geer, Eliza B., Ghigo, Ezio, Greenman, Yona, Gurnell, Mark, Ho, Ken, Ioachimescu, Adriana, Johannsson, Gudmundur, Jørgensen, Jens Otto, Kaiser, Ursula B., Karavitaki, Niki, Katznelson, Laurence, Lamberts, Stephen, Losa, Marco, Luger, Anton, Luque, Raúl, Maffei, Pietro, Marazuela, Mónica, Neggers, Sebastian, Pereira, Alberto, Persani, Luca, Petersenn, Stephan, Reincke, Martin, Salvatori, Roberto, Samson, Susan N., Schilbach, Katharina, Shimon, Ilan, Tsagarakis, Styliano, Zatelli, Maria Chiara, Null, Null, Chiloiro, Sabrina (ORCID:0000-0001-9241-2392), Giustina, Andrea, Biermasz, Nienke, Casanueva, Felipe F., Fleseriu, Maria, Mortini, Pietro, Strasburger, Christian, van der Lely, A. J., Wass, John, Melmed, Shlomo, Banfi, Giuseppe, Barkan, Ariel, Beckers, Albert, Bidlingmaier, Martin, Boguszewski, Cesar, Brue, Thierry, Buchfelder, Michael, Chanson, Philippe, Chiloiro, Sabrina, Colao, Annamaria, Coopmans, Eva, Esposito, Daniela, Ferone, Diego, Frara, Stefano, Gadelha, Mônica, Geer, Eliza B., Ghigo, Ezio, Greenman, Yona, Gurnell, Mark, Ho, Ken, Ioachimescu, Adriana, Johannsson, Gudmundur, Jørgensen, Jens Otto, Kaiser, Ursula B., Karavitaki, Niki, Katznelson, Laurence, Lamberts, Stephen, Losa, Marco, Luger, Anton, Luque, Raúl, Maffei, Pietro, Marazuela, Mónica, Neggers, Sebastian, Pereira, Alberto, Persani, Luca, Petersenn, Stephan, Reincke, Martin, Salvatori, Roberto, Samson, Susan N., Schilbach, Katharina, Shimon, Ilan, Tsagarakis, Styliano, Zatelli, Maria Chiara, Null, Null, and Chiloiro, Sabrina (ORCID:0000-0001-9241-2392)

Abstract

Purpose The 14th Acromegaly Consensus Conference was convened to consider biochemical criteria for acromegaly diagnosis and evaluation of therapeutic efficacy.Methods Fifty-six acromegaly experts from 16 countries reviewed and discussed current evidence focused on biochemical assays; criteria for diagnosis and the role of imaging, pathology, and clinical assessments; consequences of diagnostic delay; criteria for remission and recommendations for follow up; and the value of assessment and monitoring in defining disease progression, selecting appropriate treatments, and maximizing patient outcomes.Results In a patient with typical acromegaly features, insulin-like growth factor (IGF)-I > 1.3 times the upper limit of normal for age confirms the diagnosis. Random growth hormone (GH) measured after overnight fasting may be useful for informing prognosis, but is not required for diagnosis. For patients with equivocal results, IGF-I measurements using the same validated assay can be repeated, and oral glucose tolerance testing might also be useful. Although biochemical remission is the primary assessment of treatment outcome, biochemical findings should be interpreted within the clinical context of acromegaly. Follow up assessments should consider biochemical evaluation of treatment effectiveness, imaging studies evaluating residual/recurrent adenoma mass, and clinical signs and symptoms of acromegaly, its complications, and comorbidities. Referral to a multidisciplinary pituitary center should be considered for patients with equivocal biochemical, pathology, or imaging findings at diagnosis, and for patients insufficiently responsive to standard treatment approaches.Conclusion Consensus recommendations highlight new understandings of disordered GH and IGF-I in patients with acromegaly and the importance of expert management for this rare disease.

Published
2024

32. Aortic root dilation in acromegaly.

Author

Yeboah-Kordieh, Yvette Ayewa, Arif, Waqar, Weisman, David, and Salvatori, Roberto

Abstract

Previous studies have linked persistent elevations in growth hormone (GH) and insulin-like growth factor-1 (IGF-1) to cardiac abnormalities including aortic root dilation. Guidelines in the management of this dilation below the size recommended for surgery have not been well defined but follow-up and intervention when appropriate could be life-saving. We report the case of a man in his 60s who had been living with undiagnosed acromegaly for many years. His initial assessment through point-of- care ultrasound raised concerns about potential cardiac enlargement, prompting further investigation with a formal echocardiogram, which revealed a significant aortic root dilation measuring 4.5 cm. Subsequent blood tests confirmed elevated levels of IGF-1. Brain MRI showed a focal lesion in the pituitary gland, which was surgically resected, confirming the diagnosis of a GH-secreting pituitary adenoma. One year after surgery, a repeat CT angiogram of the chest demonstrated a stable size of the aortic root aneurysm. [ABSTRACT FROM AUTHOR]

Published
2024
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34. Effects of GHRH Deficiency and GHRH Antagonism on Emotional Disorders in Mice

Author

Recinella, Lucia, primary, Libero, Maria Loreta, additional, Veschi, Serena, additional, Piro, Anna, additional, Marconi, Guya Diletta, additional, Diomede, Francesca, additional, Chiavaroli, Annalisa, additional, Orlando, Giustino, additional, Ferrante, Claudio, additional, Florio, Rosalba, additional, Lamolinara, Alessia, additional, Cai, Renzhi, additional, Sha, Wei, additional, Schally, Andrew V., additional, Salvatori, Roberto, additional, Brunetti, Luigi, additional, and Leone, Sheila, additional

Published
2023
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35. Cognitive performance during senescence in untreated congenital isolated GH deficiency

Author

Batista, Vanderlan O, primary, Kellner, Michael, additional, Salvatori, Roberto, additional, Oliveira, Walter, additional, Faro, André, additional, Santos, Lucas B, additional, Melo, Enaldo V, additional, Santos, Alecia Ao, additional, Oliveira, Carla R P, additional, Campos, Viviane C, additional, Barros-Oliveira, Cynthia S, additional, Santos, Elenilde G, additional, Santana, Nathalie O, additional, Villar-Gouy, Keila R, additional, Leal, Ângela C O, additional, Amorim, Rivia S, additional, Oliveira Simões, Davi A, additional, and Aguiar-Oliveira, Manuel H, additional

Published
2023
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36. Multidisciplinary management of acromegaly: A consensus

Author

Giustina, Andrea, Barkhoudarian, Garni, Beckers, Albert, Ben-Shlomo, Anat, Biermasz, Nienke, Biller, Beverly, Boguszewski, Cesar, Bolanowski, Marek, Bollerslev, Jens, Bonert, Vivien, Bronstein, Marcello D., Buchfelder, Michael, Casanueva, Felipe, Chanson, Philippe, Clemmons, David, Fleseriu, Maria, Formenti, Anna Maria, Freda, Pamela, Gadelha, Monica, Geer, Eliza, Gurnell, Mark, Heaney, Anthony P., Ho, Ken K. Y., Ioachimescu, Adriana G., Lamberts, Steven, Laws, Edward, Losa, Marco, Maffei, Pietro, Mamelak, Adam, Mercado, Moises, Molitch, Mark, Mortini, Pietro, Pereira, Alberto M., Petersenn, Stephan, Post, Kalmon, Puig-Domingo, Manuel, Salvatori, Roberto, Samson, Susan L., Shimon, Ilan, Strasburger, Christian, Swearingen, Brooke, Trainer, Peter, Vance, Mary L., Wass, John, Wierman, Margaret E., Yuen, Kevin C. J., Zatelli, Maria Chiara, and Melmed, Shlomo

Published
2020
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38. Cerebral vasoreactivity, a surrogate marker of cerebrovascular disease, is not impaired in subjects with lifetime, untreated, congenital isolated GH deficiency

Author

Marinho, Cindi G., Melo, Hyder A., Salvatori, Roberto, Nunes, Marco A. P., Oliveira, Carla R. P., Campos, Viviane C., Barros-Oliveira, Cynthia S., Oliveira-Santos, Alécia A., Menezes, Nelmo V., Santos-Júnior, Hertz T., Santos, Elenilde G., Melo, Manuela A., Oliveira, Joselina L. M., Melo, Enaldo V., and Aguiar-Oliveira, Manuel H.

Published
2020
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40. Vestibular function in severe GH deficiency due to an inactivating mutation in the GH-releasing hormone receptor gene

Author

Santos-Carvalho, Hugo A., Aguiar-Oliveira, Manuel H., Salvatori, Roberto, Valença, Eugênia H. O., Andrade-Guimarães, Alana L., Palanch-Repeke, Carlos E., Moreira-Cândido, Luan P., Araújo-Daniel, Carlos R., de Oliveira-Barreto, Aline C., Andrade, Bruna M. R., Oliveira, Alaide H. A., Vieira, Edgar R., and Gois-Junior, Miburge B.

Published
2020
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41. X-linked acrogigantism syndrome: clinical profile and therapeutic responses

Author

Beckers, Albert, Lodish, Maya Beth, Trivellin, Giampaolo, Rostomyan, Liliya, Lee, Misu, Faucz, Fabio R, Yuan, Bo, Choong, Catherine S, Caberg, Jean-Hubert, Verrua, Elisa, Naves, Luciana Ansaneli, Cheetham, Tim D, Young, Jacques, Lysy, Philippe A, Petrossians, Patrick, Cotterill, Andrew, Shah, Nalini Samir, Metzger, Daniel, Castermans, Emilie, Ambrosio, Maria Rosaria, Villa, Chiara, Strebkova, Natalia, Mazerkina, Nadia, Gaillard, Stéphan, Barra, Gustavo Barcelos, Casulari, Luis Augusto, Neggers, Sebastian J, Salvatori, Roberto, Jaffrain-Rea, Marie-Lise, Zacharin, Margaret, Santamaria, Beatriz Lecumberri, Zacharieva, Sabina, Lim, Ee Mun, Mantovani, Giovanna, Zatelli, Maria Chaira, Collins, Michael T, Bonneville, Jean-François, Quezado, Martha, Chittiboina, Prashant, Oldfield, Edward H, Bours, Vincent, Liu, Pengfei, W de Herder, Wouter, Pellegata, Natalia, Lupski, James R, Daly, Adrian F, and Stratakis, Constantine A

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Brain Disorders, Rare Diseases, Pediatric, Clinical Research, Cancer, Acromegaly, Adenoma, Adolescent, Child, Child, Preschool, Chromosomes, Human, X, Female, Gigantism, Humans, Infant, Male, Pituitary Neoplasms, Young Adult, gigantism, X chromosome, pituitary adenoma, pediatric, X-LAG syndrome, GPR101, FIPA, duplication, Biological Sciences, Medical and Health Sciences, Oncology & Carcinogenesis, Clinical sciences, Oncology and carcinogenesis
Abstract

X-linked acrogigantism (X-LAG) is a new syndrome of pituitary gigantism, caused by microduplications on chromosome Xq26.3, encompassing the gene GPR101, which is highly upregulated in pituitary tumors. We conducted this study to explore the clinical, radiological, and hormonal phenotype and responses to therapy in patients with X-LAG syndrome. The study included 18 patients (13 sporadic) with X-LAG and microduplication of chromosome Xq26.3. All sporadic cases had unique duplications and the inheritance pattern in two families was dominant, with all Xq26.3 duplication carriers being affected. Patients began to grow rapidly as early as 2-3 months of age (median 12 months). At diagnosis (median delay 27 months), patients had a median height and weight standard deviation scores (SDS) of >+3.9 SDS. Apart from the increased overall body size, the children had acromegalic symptoms including acral enlargement and facial coarsening. More than a third of cases had increased appetite. Patients had marked hypersecretion of GH/IGF1 and usually prolactin, due to a pituitary macroadenoma or hyperplasia. Primary neurosurgical control was achieved with extensive anterior pituitary resection, but postoperative hypopituitarism was frequent. Control with somatostatin analogs was not readily achieved despite moderate to high levels of expression of somatostatin receptor subtype-2 in tumor tissue. Postoperative use of adjuvant pegvisomant resulted in control of IGF1 in all five cases where it was employed. X-LAG is a new infant-onset gigantism syndrome that has a severe clinical phenotype leading to challenging disease management.

Published
2015

44. Author Correction: Diagnosis and management of prolactin-secreting pituitary adenomas: a Pituitary Society international Consensus Statement

Author

Petersenn, Stephan, primary, Fleseriu, Maria, additional, Casanueva, Felipe F., additional, Giustina, Andrea, additional, Biermasz, Nienke, additional, Biller, Beverly M. K., additional, Bronstein, Marcello, additional, Chanson, Philippe, additional, Fukuoka, Hidenori, additional, Gadelha, Monica, additional, Greenman, Yona, additional, Gurnell, Mark, additional, Ho, Ken K. Y., additional, Honegger, Jürgen, additional, Ioachimescu, Adriana G., additional, Kaiser, Ursula B., additional, Karavitaki, Niki, additional, Katznelson, Laurence, additional, Lodish, Maya, additional, Maiter, Dominique, additional, Marcus, Hani J., additional, McCormack, Ann, additional, Molitch, Mark, additional, Muir, Christopher A., additional, Neggers, Sebastian, additional, Pereira, Alberto M., additional, Pivonello, Rosario, additional, Post, Kalmon, additional, Raverot, Gerald, additional, Salvatori, Roberto, additional, Samson, Susan L., additional, Shimon, Ilan, additional, Spencer-Segal, Joanna, additional, Vila, Greisa, additional, Wass, John, additional, and Melmed, Shlomo, additional

Published
2023
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46. SAT622 Matched Physician- And Patient-reported Responses Of Acromegaly Symptom Control: Comparisons From The Macro Registry

Author

Geer, Eliza Brevoort, primary, Huang, Wenyu, additional, Gordon, Murray B, additional, Ji Yuen, Kevin Choong, additional, Lubitz, Sara E, additional, Salvatori, Roberto, additional, Fleseriu, Maria, additional, Ioachimescu, Adriana Gabriela, additional, Christofides, Elena A, additional, Sisco, Jill, additional, Mathias, Susan D, additional, Crompton, Jason A, additional, and Molitch, Mark E, additional

Published
2023
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