• Response to Letter to the Editor: ""Nephrocalcinosis and Nephrolithiasis in X-Linked Hypophosphatemic Rickets: Diagnostic Imaging and Risk Factors"" 

  COLARES NETO, Guido de Paula; YAMAUCHI, Fernando Ide; BARONI, Ronaldo Hueb; BIANCHI, Marco de Andrade; GOMES, Andrea Cavalanti; CHAMMAS, Maria Cristina; MARTIN, Regina Matsunaga (ENDOCRINE SOC, WASHINGTON, USA, 2020)
• Letter to the Editor: ""Adrenalectomy Completely Cured Hypertension in Familial Hyperaldosteronism Type I Patients with Somatic KCNJ5 Mutation"" 

  ALMEIDA, Madson Q. (ENDOCRINE SOC, WASHINGTON, USA, 2020)
• Crossed-Probes Cryoablation for the Treatment of a Sclerotic Vertebral Metastasis Abutting the Spinal Canal 

  FREITAS, Ricardo Miguel Costa de; CALDES, Jose Guilherme Mendes Pereira; VERST, Silvia Mazzali; HOFF, Ana Oliveira; BEZERRA NETO, Joao Evangelista; FRAGOSO, Maria Candida Barisson Villares (ELSEVIER SCIENCE INC, NEW YORK, USA, 2020)
• Allelic Variants of ARMC5 in Patients With Adrenal Incidentalomas and in Patients With Cushing's Syndrome Associated With Bilateral Adrenal Nodules 

  MARIANI, Beatriz Marinho de Paula; NISHI, Mirian Yumie; WANICHI, Ingrid Quevedo; BRONDANI, Vania Balderrama; LACOMBE, Amanda Meneses Ferreira; CHARCHAR, Helaine; PEREIRA, Maria Adelaide Albergaria; SROUGI, Victor; TANNO, Fabio Yoshiaki; CECCATO, Filippo; REGAZZO, Daniela; BARBOT, Mattia; OCCHI, Gianluca; ALBIGER, Nora Maria Elvira; VIEIRA-CORREA, Marcelo; KATER, Claudio Elias; SCARONI, Carla; CHAMBO, Jose Luis; ZERBINI, Maria Claudia Nogueira; MENDONCA, Berenice B.; ALMEIDA, Madson Q.; FRAGOSO, Maria Candida Barisson Villares (FRONTIERS MEDIA SA, LAUSANNE, SWITZERLAND, 2020)

  Objective: Germline ARMC5 mutations are considered to be the main genetic cause of primary macronodular adrenal hyperplasia (PMAH). PMAH is associated with high variability of cortisol secretion caused from subclinical ...
• Stathmin 1 is highly expressed and associated with survival outcome in malignant adrenocortical tumours 

  PASSAIA, Barbara dos Santos; LIMA, Keli; KREMER, Jean Lucas; CONCEICAO, Barbara Brito da; MARIANI, Beatriz Marinho de Paula; SILVA, Jean Carlos Lipreri da; ZERBINI, Maria Claudia Nogueira; FRAGOSO, Maria Candida Barisson Villares; MACHADO-NETO, Joao Agostinho; LOTFI, Claudimara Ferini Pacicco (SPRINGER, DORDRECHT, NETHERLANDS, 2020)

  Adrenocortical carcinoma (ACC) is an aggressive endocrine cancer with few molecular predictors of malignancy and survival, especially in paediatric patients. Stathmin 1 (STMN1) regulates microtubule dynamics and has been ...
• A systematic review on the role of infrared thermography in the Brown adipose tissue assessment 

  BRASIL, Sergio; RENCK, Alessandra C.; MENECK, Franciele de; BRIOSCHI, Marcos L.; COSTA, Elaine F.; TEIXEIRA, Manoel J. (SPRINGER, NEW YORK, UNITED STATES, 2020)

  Brown adipose tissue (BAT) is an endocrine adipose tissue with attributes to dissipate energy as heat in response to changes in temperature and diet. Infrared thermography (IRT) has been studied in recent years in the ...
• Primary malignant tumors of the adrenal glands 

  ALMEIDA, Madson Q.; BEZERRA-NETO, Joao Evangelista; MENDONCA, Berenice B.; LATRONICO, Ana Claudia; V, Maria Candida B. Fragoso (HOSPITAL CLINICAS, UNIV SAO PAULO, SAO PAULO, BRAZIL, 2018)

  Malignancy must be considered in the management of adrenal lesions, including those incidentally identified on imaging studies. Adrenocortical carcinomas (ACCs) are rare tumors with an estimated annual incidence of 0.7-2 ...
• Plasma Renin Measurements are Unrelated to Mineralocorticoid Replacement Dose in Patients With Primary Adrenal Insufficiency 

  POFI, Riccardo; PRETE, Alessandro; THORNTON-JONES, Vivien; BRYCE, Jillian; ALI, Salma R.; AHMED, S. Faisal; BALSAMO, Antonio; BARONIO, Federico; CANNUCCIA, Amalia; GUVEN, Ayla; GURAN, Tulay; DARENDELILER, Feyza; HIGHAM, Claire; BONFIG, Walter; VRIES, Liat de; BACHEGA, Tania A. S. S.; MIRANDA, Mirela C.; MENDONCA, Berenice B.; IOTOVA, Violeta; KORBONITS, Marta; KRONE, Nils P.; KRONE, Ruth; LENZI, Andrea; ARLT, Wiebke; ROSS, Richard J.; ISIDORI, Andrea M.; TOMLINSON, Jeremy W. (ENDOCRINE SOC, WASHINGTON, USA, 2020)

  Context: No consensus exists for optimization of mineralocorticoid therapy in patients with primary adrenal insufficiency. Objective: To explore the relationship between mineralocorticoid (MC) replacement dose, plasma renin ...
• Sterol O-Acyl Transferase 1 as a Prognostic Marker of Adrenocortical Carcinoma 

  LACOMBE, Amanda Meneses Ferreira; SOARES, Ibere Cauduro; MARIANI, Beatriz Marinho de Paula; NISHI, Mirian Yumie; BEZERRA-NETO, Joao Evangelista; CHARCHAR, Helaine da Silva; BRONDANI, Vania Balderrama; TANNO, Fabio; SROUGI, Victor; CHAMBO, Jose Luiz; FREITAS, Ricardo Miguel Costa de; MENDONCA, Berenice Bilharinho; HOFF, Ana O.; ALMEIDA, Madson Q.; WEIGAND, Isabel; KROISS, Matthias; ZERBINI, Maria Claudia Nogueira; FRAGOSO, Maria Candida Barisson Villares (MDPI, BASEL, SWITZERLAND, 2020)

  Adrenocortical carcinoma (ACC) is a rare endocrine malignancy with an unfavorable prognosis. Despite the poor prognosis in the majority of patients, no improvements in treatment strategies have been achieved. Therefore, ...
• Integrative and Analytical Review of the 5-Alpha-Reductase Type 2 Deficiency Worldwide 

  BATISTA, Rafael Loch; MENDONCA, Berenice Bilharinho (DOVE MEDICAL PRESS LTD, ALBANY, NEW ZEALAND, 2020)

  Introduction: The conversion of testosterone into dihydrotestosterone is catalyzed by the 5 alpha-reductase type 2 enzyme which plays a crucial role in the external genitalia virilization. It is encoded by the SRD5A2 gene. ...
• Real-world impact of glucocorticoid replacement therapy on bone mineral density: retrospective experience of a large single-center CAH cohort spanning 24 years 

  IERVOLINO, L. L.; FERRAZ-DE-SOUZA, B.; MARTIN, R. M.; COSTA, F. C.; MIRANDA, M. C.; MENDONCA, B. B.; BACHEGA, T. S. (SPRINGER LONDON LTD, LONDON, ENGLAND, 2020)

  The congenital adrenal hyperplasia population seems to have an intrinsic tendency to a high frequency of low bone mass. However in this single-center and long-term evaluated cohort, the simplified corticoid regimen, with ...
• Genetics of Primary Ovarian Insufficiency in the Next-Generation Sequencing Era 

  FRANCA, Monica Malheiros; MENDONCA, Berenice Bilharinho (ENDOCRINE SOC, WASHINGTON, USA, 2020)

  Primary ovarian insufficiency (POI) is characterized by amenorrhea, increased follicle-stimulating hormone (FSH) levels, and hypoestrogenism, leading to infertility before the age of 40 years. Elucidating the cause of POI ...
• Adverse Outcomes and Economic Burden of Congenital Adrenal Hyperplasia Late Diagnosis in the Newborn Screening Absence 

  MIRANDA, Mirela Costa de; HADDAD, Luciana Bertocco de Paiva; MADUREIRA, Guiomar; MENDONCA, Berenice Bilharinho de; BACHEGA, Tania A. S. S. (ENDOCRINE SOC, WASHINGTON, USA, 2020)

  Objective: To establish short- and long-term adverse outcome frequencies related to a late diagnosis of congenital adrenal hyperplasia (CAH) in the absence of newborn screening (NBS) and to determine respective treatment ...
• Internal validation and decision curve analysis of a preoperative nomogram predicting a postoperative complication in pheochromocytoma surgery: An international study 

  PHILLIPS, John; BLOOM, Jonathan; YARLAGADDA, Vidhush; SCHULTZ, Luciana; GORDETSKY, Jennifer; TANNO, Fabio Y.; CHAMBO, Jose L.; ALMEIDA, Madson Q.; V, Maria C. B. Fragoso; SROUGI, Miguel; SROUGI, Victor; RAIS-BAHRAMI, Soroush (WILEY, HOBOKEN, USA, 2020)

  Objectives To develop a preoperative nomogram that would predict the risk of a postoperative complication for pheochromocytoma patients undergoing adrenalectomy using an international database. Methods We retrospectively ...
• Mobile DNA in Endocrinology: LINE-1 Retrotransposon Causing Partial Androgen Insensitivity Syndrome 

  BATISTA, Rafael Loch; YAMAGUCHI, Katsumi; RODRIGUES, Andresa di Santi; NISHI, Mirian Yumie; GOODIER, John L.; CARVALHO, Luciani Renata; DOMENICE, Sorahia; COSTA, Elaine M. F.; KAZAZIAN JR., Haig H.; MENDONCA, Berenice Bilharinho (ENDOCRINE SOC, WASHINGTON, USA, 2019)

  Context: Androgen insensitivity syndrome (AIS) is the most common cause of disorders of sex development in 46,XY individuals. It is an X-linked condition usually caused by pathogenic allelic variants in the androgen receptor ...
• An Easy Method for Cryopreservation of Zebrafish (Danio rerio) Sperm 

  SILVA, Caroline Caetano Da; KOLLAR, Timea; CSENKI-BAKOS, Zsolt; FERNANDES, Bianca H. V.; HORVATH, Akos; CARVALHO, Luciani R. (MARY ANN LIEBERT, INC, NEW ROCHELLE, USA, 2019)

  We developed an easy, efficient, and cheap protocol for zebrafish sperm cryopreservation carried out on dry ice (20min) using simple composition solution (200mM glucose, 40mM KCl, 30mM Tris, pH=8.0). The average efficiency ...
• Radiotherapy-induced malignancies in breast cancer patients with TP53 pathogenic germline variants (Li-Fraumeni syndrome) 

  PETRY, Vanessa; BONADIO, Renata Colombo; CAGNACCI, Allyne Queiroz Carneiro; SENNA, Luiz Antonio Leite; CAMPOS, Roberta da Nascimento Galvao; COTTI, Guilherme Cutait; HOFF, Paulo M.; FRAGOSO, Maria Candida Barisson Villares; ESTEVEZ-DIZ, Maria del Pilar (SPRINGER, DORDRECHT, NETHERLANDS, 2020)

  The risk of radiotherapy-induced malignancies (RIMs) is a concern when treating Li-Fraumeni syndrome (LFS) or Li-Fraumeni Like (LFL) patients. However, the type of TP53 pathogenic germline variant may possibly influence ...
• Genetic investigation of patients with tall stature 

  ALBUQUERQUE, Edoarda Vasco de Albuquerque; FUNARI, Mariana Ferreira de Assis; QUEDAS, Elisangela Pereira de Souza; KAWAHIRA, Rachel Sayuri Honjo; JALLAD, Raquel Soares; HOMMA, Thais Kataoka; MARTIN, Regina Matsunaga; BRITO, Vinicius Nahime; MALAQUIAS, Alexsandra Christianne; LERARIO, Antonio Marcondes; ROSENBERG, Carla; KREPISCHI, Ana Cristina Victorino; KIM, Chong Ae; ARNHOLD, Ivo Jorge Prado; JORGE, Alexander Augusto de Lima (BIOSCIENTIFICA LTD, BRISTOL, ENGLAND, 2020)

  Context: Patients with tall stature often remain undiagnosed after clinical investigation and few studies have genetically assessed this group, most of them without a systematic approach. Objective: To assess prospectively ...
• Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum 

  SILVA, Thatiana Evilen da; GOMES, Nathalia Lisboa; LERARIO, Antonio Marcondes; KEEGAN, Catherine Elizabeth; NISHI, Mirian Yumi; CARVALHO, Filomena Marino; VILAIN, Eric; BARSEGHYAN, Hayk; MARTINEZ-AGUAYO, Alejandro; FORCLAZ, Maria Veronica; PAPAZIAN, Regina; PAULA, Leila Cristina Pedroso de; COSTA, Eduardo Correa; CARVALHO, Luciani Renata; JORGE, Alexander Augusto Lima; ELIAS, Felipe Martins; MITCHELL, Rod; COSTA, Elaine Maria Frade; MENDONCA, Berenice Bilharinho; DOMENICE, Sorahia (ENDOCRINE SOC, WASHINGTON, USA, 2019)

  Context: 46,XY Gonadal dysgenesis (GD) is a heterogeneous group of disorders with a wide phenotypic spectrum, including embryonic testicular regression syndrome (ETRS). Objective: To report a gene for 46,XY GD etiology, ...
• Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients 

  VILLELA, Thais R.; FREIRE, Bruna L.; BRAGA, Nathalia T. P.; ARANTES, Rodrigo R.; FUNARI, Mariana F. A.; JORGE, Alexander A. L.; SILVA, Ivani N. (SOC BRASIL GENETICA, RIBEIRAO PRET, BRAZIL, 2019)

  Laron's syndrome (LS) is a rare genetic disorder characterized by insensitivity to growth hormone (GH). Up to the present time, over 70 mutations of GH receptor (GHR) gene have been identified leading to GH/insulin-like ...

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