• TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci 

  DAVIS, Erica E.; BALASUBRAMANIAN, Ravikumar; KUPCHINSKY, Zachary A.; KEEFE JR., David L.; PLUMMER, Lacey; KHAN, Kamal; MECZEKALSKI, Blazej; HEATH, Karen E.; LOPEZ-GONZALEZ, Vanesa; BALLESTA-MARTINEZ, Mary J.; MARGABANTHU, Gomathi; PRICE, Susan; GREENING, James; BRAUNER, Raja; VALENZUELA, Irene; CUSCO, Ivon; FERNANDEZ-ALVAREZ, Paula; WIERMAN, Margaret E.; LI, Taibo; LAGE, Kasper; BARROSO, Priscila Sales; CHAN, Yee-Ming; CROWLEY, William F.; KATSANIS, Nicholas (OXFORD UNIV PRESS, OXFORD, ENGLAND, 2020)

  Dysfunction of the gonadotropin-releasing hormone (GnRH) axis causes a range of reproductive phenotypes resulting from defects in the specification, migration and/or function of GnRH neurons. To identify additional molecular ...
• MKRN3 inhibits the reproductive axis through actions in kisspeptin-expressing neurons 

  ABREU, Ana Paula; TORO, Carlos A.; SONG, Yong Bhum; NAVARRO, Victor M.; BOSCH, Martha A.; EREN, Aysegul; LIANG, Joy N.; CARROLL, Rona S.; LATRONICO, Ana Claudia; RONNEKLEIV, Oline K.; AYLWIN, Carlos F.; LOMNICZI, Alejandro; OJEDA, Sergio; KAISER, Ursula B. (AMER SOC CLINICAL INVESTIGATION INC, ANN ARBOR, USA, 2020)

  The identification of loss-of-function mutations in MKRN3 in patients with central precocious puberty in association with the decrease in MKRN3 expression in the medial basal hypothalamus of mice before the initiation of ...
• Clinical and Genetic Characterization of a Constitutional Delay of Growth and Puberty Cohort 

  BARROSO, Priscila Sales; JORGE, Alexander Augusto Lima; LERARIO, Antonio Marcondes; MONTENEGRO, Luciana Ribeiro; VASQUES, Gabriela Andrade; AMATO, Lorena Guimaraes Lima; SILVEIRA, Leticia Ferreira Gontijo; MENDONCA, Berenice Bilharinho; LATRONICO, Ana Claudia (KARGER, BASEL, SWITZERLAND, 2020)

  Introduction:Constitutional delay of growth and puberty (CDGP) is the most prevalent cause of delayed puberty in both sexes. Family history of delayed puberty (2 or more affected members in a family) has been evidenced in ...
• Pathogenic variants inTNRC6Bcause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD 

  GRANADILLO, Jorge Luis; STEGMANN, Alexander P.A.; GUO, Hui; XIA, Kun; ANGLE, Brad; BONTEMPO, Kelly; RANELLS, Judith D.; NEWKIRK, Patricia; COSTIN, Carrie; VIRONT, Joleen; STUMPEL, Constanze T.; SINNEMA, Margje; PANIS, Bianca; PFUNDT, Rolph; KRAPELS, Ingrid P. C.; KLAASSENS, Merel; NICOLAI, Joost; LI, Jinliang; JIANG, Yuwu; MARCO, Elysa; CANTON, Ana; LATRONICO, Ana Claudia; MONTENEGRO, Luciana; LEHEUP, Bruno; BONNET, Celine; AMUDHAVALLI, Shivarajan M.; LAWSON, Caitlin E.; MCWALTER, Kirsty; TELEGRAFI, Aida; PEARSON, Richard; KVARNUNG, Malin; WANG, Xia; BI, Weimin; ROSENFELD, Jill Anne; SHINAWI, Marwan (BMJ PUBLISHING GROUP, LONDON, ENGLAND, 2020)

  Background Rare variants in hundreds of genes have been implicated in developmental delay (DD), intellectual disability (ID) and neurobehavioural phenotypes.TNRC6Bencodes a protein important for RNA silencing. Heterozygous ...
• Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency 

  FRANCA, Monica M.; FUNARI, Mariana F. A.; LERARIO, Antonio M.; SANTOS, Mariza G.; NISHI, Mirian Y.; DOMENICE, Sorahia; MORAES, Daniela R.; COSTALONGA, Everlayny F.; MACIEL, Gustavo A. R.; MACIEL-GUERRA, Andrea T.; GUERRA-JUNIOR, Gil; MENDONCA, Berenice B. (PUBLIC LIBRARY SCIENCE, SAN FRANCISCO, USA, 2020)

  Primary ovarian insufficiency (POI) is a heterogeneous disorder associated with several genes. The majority of cases are still unsolved. Our aim was to identify the molecular diagnosis of a Brazilian cohort with POI. Genetic ...
• What Is the Most Common Cause of Secondary Hypertension?: An Interdisciplinary Discussion 

  ALMEIDA, Madson Q.; SILVA, Giovanio V.; DRAGER, Luciano F. (SPRINGER, NEW YORK, UNITED STATES, 2020)

  Purpose of Review Traditional statements in medical textbooks pointed that 90 to 95% of cases of hypertension is essential or primary. However, secondary hypertension seems to be common in those patients with resistant ...
• High accuracy of bilateral and simultaneous petrosal sinus sampling with desmopressin for the differential diagnosis of pediatric ACTH-dependent Cushing's syndrome 

  CAVALCANTE, Lara Bessa Campelo Pinheiro; FREITAS, Thais Castanheira; MUSOLINO, Nina Rosa Castro; CESCATO, Valter Angelo Sperling; SILVA, Gilberto Ochman; FRAGOSO, Maria Candida Barisson Villares; JR, Paulo Puglia; BRONSTEIN, Marcello Delano; MACHADO, Marcio Carlos (SPRINGER, NEW YORK, UNITED STATES, 2020)

  Purpose To analyze the bilateral and simultaneous petrosal sinus sampling (BIPSS) in a subgroup of children and adolescents with ACTH-dependent Cushing's syndrome (ADCS) Methods Retrospective study in a tertiary reference ...
• Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients 

  MANTOVANI, Giovanna; BASTEPE, Murat; MONK, David; SANCTIS, Luisa De; THIELE, Susanne; AHMED, S. Faisal; BUFO, Roberto; CHOPLIN, Timothee; FILIPPO, Gianpaolo De; DEVERNOIS, Guillemette; EGGERMANN, Thomas; ELLI, Francesca M.; RAMIREZ, Aurora Garcia; GERMAIN-LEE, Emily L.; GROUSSIN, Lionel; HAMDY, Neveen A. T.; HANNA, Patrick; HIORT, Olaf; JUEPPNER, Harald; KAMENICKY, Peter; KNIGHT, Nina; NORCY, Elvire Le; LECUMBERRI, Beatriz; LEVINE, Michael A.; MAEKITIE, Outi; MARTIN, Regina; MARTOS-MORENO, Gabriel Angel; MINAGAWA, Manasori; MURRAY, Philip; PEREDA, Arrate; PIGNOLO, Robert; REJNMARK, Lars; RODADO, Rebeca; ROTHENBUHLER, Anya; SARAFF, Vrinda; SHOEMAKER, Ashley H.; SHORE, Eileen M.; SILVE, Caroline; TURAN, Serap; WOODS, Philip; ZILLIKENS, M. Carola; NANCLARES, Guiomar Perez de; LINGLART, Agnes (KARGER, BASEL, SWITZERLAND, 2020)

  Patients affected by pseudohypoparathyroidism (PHP) or related disorders are characterized by physical findings that may include brachydactyly, a short stature, a stocky build, early-onset obesity, ectopic ossifications, ...
• Diagnostic Characteristics of Serological-Based COVID-19 Testing: A Systematic Review and Meta-Analysis 

  MOURA, Diogo Turiani Hourneaux de; MCCARTY, Thomas R.; RIBEIRO, Igor Braga; FUNARI, Mateus Pereira; OLIVEIRA, Pedro Victor Aniz Gomes de; MIRANDA NETO, Antonio Afonso de; MONTE JUNIOR, Epifanio Silvino do; TUSTUMI, Francisco; BERNARDO, Wanderley Marques; MOURA, Eduardo Guimaraes Hourneaux de; THOMPSON, Christopher C. (HOSPITAL CLINICAS, UNIV SAO PAULO, SAO PAULO, BRAZIL, 2020)

  Serologic testing for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) promises to assist in assessing exposure to and confirming the diagnosis of coronavirus disease 2019 (COVID-19), and to provide a roadmap ...
• Pediatric adrenocortical tumor - review and management update 

  BRONDANI, Vania B.; V, Maria Candida B. Fragoso (LIPPINCOTT WILLIAMS & WILKINS, PHILADELPHIA, USA, 2020)

  Purpose of review Adrenocortical tumor (ACT) is a rare disease with an annual worldwide incidence of 0.3-0.38/million children below 15 years old, and Brazilian population presents the highest incidence because of germline ...
• Using Kisspeptin to Predict Pubertal Outcomes for Youth With Pubertal Delay 

  CHAN, Yee-Ming; LIPPINCOTT, Margaret F.; BARROSO, Priscila Sales; ALLEYN, Cielo; BRODSKY, Jill; GRANADOS, Hector; ROBERTS, Stephanie A.; SANDLER, Courtney; SRIVATSA, Abhinash; SEMINARA, Stephanie B. (ENDOCRINE SOC, WASHINGTON, USA, 2020)

  Context: The management of youth with delayed puberty is hampered by difficulty in predicting who will eventually progress through puberty and who will fail to attain adult reproductive endocrine function. The neuropeptide ...
• Expression of SOAT1 in Adrenocortical Carcinoma and Response to Mitotane Monotherapy: An ENSAT Multicenter Study 

  WEIGAND, Isabel; ALTIERI, Barbara; LACOMBE, Amanda M. F.; BASILE, Vittoria; KIRCHER, Stefan; LANDWEHR, Laura-Sophie; SCHREINER, Jochen; ZERBINI, Maria C. N.; RONCHI, Cristina L.; MEGERLE, Felix; BERRUTI, Alfredo; CANU, Letizia; VOLANTE, Marco; PAIVA, Isabel; CASA, Silvia Della; SBIERA, Silviu; FASSNACHT, Martin; V, Maria Candida B. Fragoso; TERZOLO, Massimo; KROISS, Matthias (ENDOCRINE SOC, WASHINGTON, USA, 2020)

  Context: Objective response rate to mitotane in advanced adrenocortical carcinoma (ACC) is approximately 20%, and adverse drug effects are frequent. To date, there is no marker established that predicts treatment response. ...
• ARMC5 mutations are associated with high levels of proliferating cell nuclear antigen and the presence of the serotonin receptor 5HT4R in PMAH nodules 

  CONCEICAO, Barbara Brito da; CAVALCANTE, Isadora Pontes; KREMER, Jean Lucas; AURICINO, Thais Barabba; BENTO, Eduarda Correa; ZERBINI, Maria Claudia Nogueira; FRAGOSO, Maria Candida Barisson Villares; LOTFI, Claudimara Ferini Pacicco (SBEM-SOC BRASIL ENDOCRINOLOGIA & METABOLOGIA, RIO DE JANEIRO, RJ, BRAZIL, 2020)

  Objective. To analyze the morphological and functional characteristics of primary macronodular adrenal hyperplasia (PMAH) nodules carrying or not carrying ARMC5 mutations and the consequences of the presence of mutations ...
• A New Insight into the Surgical Treatment of Primary Macronodular Adrenal Hyperplasia 

  TANNO, Fabio Yoshiaki; SROUGI, Victor; ALMEIDA, Madson Q.; YAMAUCHI, Fernando Ide; COELHO, Fernando Morbeck Almeida; NISHI, Mirian Yumie; ZERBINI, Maria Claudia Nogueira; SOARES, Iracy Silvia Correa; PEREIRA, Maria Adelaide Albergaria; CHARCHAR, Helaine Laiz Silva; LACOMBE, Amanda Meneses Ferreira; BRONDANI, Vania Balderrama; SROUGI, Miguel; NAHAS, Willian Carlos; MENDONCA, Berenice B.; CHAMBO, Jose Luis; FRAGOSO, Maria Candida Barisson Villares (ENDOCRINE SOC, WASHINGTON, USA, 2020)

  Purpose: This prospective study presents the results of a new approach in the treatment of primary macronodular adrenal hyperplasia (PMAII), with simultaneous total adrenalectomy of the larger adrenal gland and partial ...
• Do bacteria contribute to formation and rupture of intracranial aneurysms? 

  RABELO, Nicollas Nunes; RODRIGUES, Renan Salomao; SALAME, Arthur Araujo Massoud; BRAZ-SILVA, Paulo Henrique; TEIXEIRA, Manoel Jacobsen; FIGUEIREDO, Eberval Gadelha (AMER ASSOC NEUROLOGICAL SURGEONS, ROLLING MEADOWS, USA, 2020)
• Brazilian cohort and genes encoding for drug-metabolizing enzymes and drug transporters 

  KIM, Vera; WAL, Thijs van der; NISHI, Miriam Yumie; MONTENEGRO, Luciana Ribeiro; CARRILHO, Flair Jose; HOSHIDA, Yujin; ONO, Suzane Kioko (FUTURE MEDICINE LTD, LONDON, ENGLAND, 2020)

  Background & aim: Genetic variability in drug absorption, distribution, metabolism and excretion (ADME) genes contributes to the high heterogeneity of drug responses. The present study investigated polymorphisms of ADME ...
• SELAdb: A database of exonic variants in a Brazilian population referred to a quaternary medical center in Sao Paulo 

  LERARIO, Antonio Marcondes; MOHAN, Dipika R.; MONTENEGRO, Luciana Ribeiro; FUNARI, Mariana Ferreira de Assis; NISHI, Mirian Yumie; NARCIZO, Amanda de Moraes; BENEDETTI, Anna Flavia Figueredo; OBA-SHINJO, Sueli Mieko; VITORINO, Aurelio Jose; SANTOS, Rogerio Alexandre Scripnic Xavier dos; JORGE, Alexander Augusto de Lima; ONUCHIC, Luiz Fernando; MARIE, Suely Kazue Nagahashi; MENDONCA, Berenice Bilharinho (HOSPITAL CLINICAS, UNIV SAO PAULO, SAO PAULO, BRAZIL, 2020)

  OBJECTIVES: High-throughput sequencing of genomes, exomes, and disease-focused gene panels is becoming increasingly common for molecular diagnostics. However, identifying a single clinically relevant pathogenic variant ...
• A Bayesian Approach to Diagnose Growth Hormone Deficiency in Children: Insulin-Like Growth Factor Type 1 Is Valuable for Screening and IGF-Binding Protein Type 3 for Confirmation 

  INOUE-LIMA, Thais H.; VASQUES, Gabriela A.; NAKAGUMA, Marilena; BRITO, Luciana Pinto; MENDONCA, Berenice B.; ARNHOLD, Ivo J. P.; JORGE, Alexander A. L. (KARGER, BASEL, SWITZERLAND, 2020)

  Background:The utility of insulin-like growth factor type 1 (IGF-1) is well established in the diagnosis of growth hormone deficiency (GHD), whereas IGF-binding protein type 3 (IGFBP-3) has a more controversial role. Most ...
• Long-term cardio-metabolic outcomes in patients with classical congenital adrenal hyperplasia: is the risk real? 

  GOMES, Larissa G.; MENDONCA, Berenice B.; BACHEGA, Tania A. S. S. (LIPPINCOTT WILLIAMS & WILKINS, PHILADELPHIA, USA, 2020)

  Purpose of review Data on the long-term cardio-metabolic outcomes classical congenital adrenal hyperplasia (CAH) patients have been published with controversial results. Conventional treatment recommends hydrocortisone ...
• Impact of schooling in the HIV/AIDS prevalence among Brazilian transgender women 

  BATISTA, Rafael Loch; VERDUGUEZ, Elisa dal Rosario; INACIO, Marlene; CUNHA, Flavia Siqueira; MARQUES, Mateus Diniz; GOMES, Natalia Lisboa Rosa Almeida; JR, Jose Antonio D. Faris; SIRCILI, Maria Helena Palma; MENDONCA, Berenice B.; COSTA, Elaine M. Frade; DOMENICE, Sorahia (SBEM-SOC BRASIL ENDOCRINOLOGIA & METABOLOGIA, RIO DE JANEIRO, RJ, BRAZIL, 2020)

  Objective: Discrimination and bullying are common conditions among LGBT people. During schooling, these practices compromising education.The aim of this study is to evaluate educational attainment among Brazilian transgender ...

View more