FSH may be a useful tool to allow early diagnosis of Turner syndrome

Autor: Stela Carpini, Annelise Barreto Carvalho, Sofia Helena Valente de Lemos-Marini, Gil Guerra-Junior, Andréa Trevas Maciel-Guerra

Publikováno v: BMC Endocrine Disorders, Vol 18, Iss 1, Pp 1-7 (2018)

Abstract Background Ultrasensitive assays to measure pre-pubertal gonadotropins levels could help identify patients with Turner syndrome (TS) in mid-childhood, but studies in this field are scarce. The aim of this study was to analyze gonadotropins l

Externí odkaz: https://doaj.org/article/9f11d7b3f9ef4434b5011ba8e8e077ff

Bilateral Wilms’ tumor in a child with Denys-Drash syndrome: novel frameshift variant disrupts the WT1 nuclear location signaling region

Autor: Mara Sanches Guaragna, Felipe Lourenço Ledesma, Victoria Zavanelli Manzano, Andréa Trevas Maciel-Guerra, Gil Guerra-Júnior, Marcelo Milone Silva, Pedro Luiz de Brito, Maricilda Palandi de Mello

Publikováno v: Journal of Pediatric Endocrinology and Metabolism. 35:837-843

Objectives Wilm’s Tumor (WT) is the most common pediatric kidney cancer. Whereas most WTs are isolated, approximately 5% are associated with syndromes such as Denys-Drash (DDS), characterized by early onset nephropathy, disorders of sex development

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7bb5dc9fe4a46b1ad90ef0a6a53b966a
https://doi.org/10.1515/jpem-2021-0673

Androgens by immunoassay and mass spectrometry in children with 46,XY disorder of sex development

Autor: Guilherme Guaragna-Filho, David Antônio Silva, Maricilda Palandi de Mello, Carlos Alberto Longui, Maria Izabel Chiamolera, Rafael Lanaro, André Moreno Morcillo, Andréa Trevas Maciel-Guerra, Gil Guerra-Júnior, Leticia Ribeiro Oliveira, Jose Luiz Costa

Publikováno v: Endocrine Connections, Vol 9, Iss 11, Pp 1085-1094 (2020)
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Endocrine Connections

Objective Steroid measurement is a challenge in pediatric endocrinology. Currently, liquid chromatography with tandem mass spectrometry (LC-MS/MS) is considered a gold standard for this purpose. The aim of this study was to compare both LC-MS/MS and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d3205e236d175361c9b48c24eb73573
https://doi.org/10.1530/ec-20-0454

An illustrative case of Léri-Weill dyschondrosteosis

Autor: Renata de Lima, Cristina Forti Iamada, Luciana Oliveira Silva, Maricilda Palandi de Mello, Andréa Trevas Maciel-Guerra

Publikováno v: Genetics and Molecular Biology, Vol 31, Iss 4, Pp 839-842 (2008)

We report on a girl presenting Léri-Weill dyschondrosteosis (LWD) due to deletion of the SHOX gene. Her family included individuals with short stature alone or with both short stature and mesomelia or Madelung's deformity. The deletion was demonstra

Externí odkaz: https://doaj.org/article/61422cb2a536496d84d3d78b879a492d

Association between Down Syndrome and Disorders of Sex Development: Report of Three Cases and Review of 188 Cases in the Literature

Autor: Leandra Steinmetz, Jean C Sievert, Paula A Saito, Octavio O Santos-Neto, Tais Nitsch Mazzola, Helena Fabbri-Scallet, Társis Paiva Vieira, Juliana Gabriel Ribeiro de Andrade, Nilma Lúcia Viguetti-Campos, Marina Mariano, Maricilda Palandi de Mello, Andréa Trevas Maciel-Guerra, Marianna Ferreira, Gil Guerra-Júnior, Mara Sanches Guaragna, Antonia Paula Marques-de-Faria, Durval Damiani, Ana Paula Santos

Publikováno v: Sexual Development. 14:3-11

In this study, we present 3 cases of Down syndrome (DS) associated with disorders/differences of sex development (DSD) and review the literature on this topic. Case 1: 1-year-old child with male genitalia and DS phenotype, 47,XX,+21 karyotype and tes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0c509b4d27a2e5b00d5ae95e3c43705
https://doi.org/10.1159/000513415