Insights on the phenotypic heterogenity of 11β-hydroxylase deficiency: clinical and genetic studies in two novel families

Autor: Adriana Lofrano-Porto, Luiz Claudio Castro, Olivia Laquis de Moraes, Luciana Pinto Valadares, Renata Santarem de Oliveira, Selma Moreira de Brito Sousa, Alessandra Pfeilsticker, Sarah Caixeta Cardoso

Publikováno v: Endocrine. 62:326-332

11β-hydroxylase deficiency accounts for 5% of congenital adrenal hyperplasia cases. Diagnosis suspiction is classically based on the association between abnormal virilization, precocious puberty, and hypertension in 46XX or 46XY subjects. We investi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11c4cea9e1ad19126554ed694cbdc15f
https://doi.org/10.1007/s12020-018-1691-4

SUN-580 Pituitary Hyperplasia Secondary to Primary Hypothyroidism in Pediatrics: A Diagnosis Not to Be Forgotten

Autor: Matos Rezek Rodrigues S, Délia Braz, Adriana Lofrano-Porto, Fernanda Sousa Cardoso Lopes, Nobrega N, Bastos D, Florencio A, Mota G, Renata Santarem de Oliveira, Luiz Claudio Castro, Lais Pereira de Oliveira

Publikováno v: Journal of the Endocrine Society

Background: Pathologic pituitary hyperplasia (PH) in Pediatrics may be observed in several clinical settings. In PH secondary to primary hypothyroidism the increased TRH levels, due to a long-standing hypothyroidism state and loss of negative thyroxi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::277fbb37521fc3386dff51e125752935
https://doi.org/10.1210/js.2019-sun-580

Congenital Adrenal Hyperplasia due to 11[beta]-Hydroxilase Deficiency: clinical and molecular studies of two novel families with variable phenotypes

Autor: Adriana Lofrano-Porto, Olivia Morais, Alessandra Pfeilsticker, Renata Santarem, Selma Moreira de Brito Sousa, Sarah Caixeta Cardoso, Luciana Pinto Valadares

Publikováno v: Endocrine Abstracts.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::dabe38408febf76b909db6f09dd62b32
https://doi.org/10.1530/endoabs.49.ep84

Associações genótipo-fenótipo em 29 portadores de hiperplasia adrenal congênita forma clássica acompanhados em um centro de referência do Distrito Federal : um estudo retrospectivo longitudinal

Autor: Oliveira, Renata Santarem de

Publikováno v: Repositório Institucional da UnBUniversidade de BrasíliaUNB.

Dissertação (mestrado)—Universidade de Brasília, Faculdade de Ciências da Saúde, Programa de Pós-Graduação em Ciências da Saúde, 2015.
Submitted by Ana Cristina Barbosa da Silva (annabds@hotmail.com) on 2015-04-24T18:13:12Z No. of bi

3?-hydroxysteroid dehydrogenase type II deficiency on newborn screening test

Autor: Araújo, Vitor Guilherme Brito de, Oliveira, Renata Santarem de, Gameleira, Kallianna Paula Duarte, Cruz, Cátia Barbosa, Lofrano-Porto, Adriana

Publikováno v: Arquivos Brasileiros de Endocrinologia & Metabologia v.58 n.6 2014
Arquivos Brasileiros de Endocrinologia & Metabologia
Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)
instacron:SBEM
Arquivos Brasileiros de Endocrinologia & Metabologia, Volume: 58, Issue: 6, Pages: 650-655, Published: AUG 2014

3b-hydroxysteroid dehydrogenase II (3β-HSD) deficiency represents a rare CAH variant. Newborns affected with its classic form have salt wasting in early infancy and genital ambiguity in both sexes. High levels of 17-hydroxypregnenolone (Δ517OHP) ar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::59a7204e65799dbf8dc0d9848a0268c1
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302014000600650