Mutation distributions among patients with congenital adrenal hyperplasia from five regions of Brazil: a systematic review

Autor: Silvério S. Hosomi, Igor C. Salles, Tânia A. S. S. Bachega

Publikováno v: Archives of Endocrinology and Metabolism (2023)

ABSTRACT Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is an autosomal recessive disorder caused by CYP21A2 gene mutations, and its molecular diagnosis is widely used in clinical practice to confirm the hormonal diagnosis. Hence, co

Externí odkaz: https://doaj.org/article/78fdecf747a74e519fa5fbba15e89dfc

Analysis of therapy monitoring in the International Congenital Adrenal Hyperplasia Registry

Autor: Neil Lawrence, Irina Bacila, Jeremy Dawson, Jillian Bryce, Salma R. Ali, Erica L. T. van den Akker, Tânia A. S. S. Bachega, Federico Baronio, Niels H. Birkebæk, Walter Bonfig, Hedi C. van der Grinten, Eduardo C. Costa, Liat de Vries, Heba Elsedfy, Ayla Güven, Sabine Hannema, Violeta Iotova, Hetty J. van der Kamp, María Clemente, Corina R. Lichiardopol, Tatjana Milenkovic, Uta Neumann, Ana Nordenström, Şukran Poyrazoğlu, Ursina Probst‐Scheidegger, Luisa De Sanctis, Rieko Tadokoro‐Cuccaro, Ajay Thankamony, Ana Vieites, Zehra Yavaş, Syed Faisal Ahmed, Nils Krone

Publikováno v: Clinical Endocrinology. Wiley-Blackwell
Lawrence, N, Bacila, I, Dawson, J, Bryce, J, Ali, S R, van den Akker, E L T, Bachega, T A S S, Baronio, F, Birkebæk, N H, Bonfig, W, van der Grinten, H C, Costa, E C, de Vries, L, Elsedfy, H, Güven, A, Hannema, S, Iotova, V, van der Kamp, H J, Clemente, M, Lichiardopol, C R, Milenkovic, T, Neumann, U, Nordenström, A, Poyrazoğlu, Ş, Probst-Scheidegger, U, De Sanctis, L, Tadokoro-Cuccaro, R, Thankamony, A, Vieites, A, Yavaş, Z, Faisal Ahmed, S & Krone, N 2022, ' Analysis of therapy monitoring in the International Congenital Adrenal Hyperplasia Registry ', Clinical Endocrinology, vol. 97, no. 5, pp. 551-561 . https://doi.org/10.1111/cen.14796
Clinical Endocrinology, 97(5), 551-561. Wiley-Blackwell Publishing Ltd
Lawrence, N, Bacila, I, Dawson, J, Bryce, J, Ali, S R, van den Akker, E L T, Bachega, T N A S S, Baronio, F, Birkebæk, N H, Bonfig, W, van der Grinten, H C, Costa, E C, de Vries, L, Elsedfy, H, Güven, A, Hannema, S, Iotova, V, van der Kamp, H J, León, M C, Lichiardopol, C R, Milenkovic, T, Neumann, U, Nordenström, A, Poyrazoğlu, Ş, Probst-Scheidegger, U, de Sanctis, L, Tadokoro-Cuccaro, R, Thankamony, A, Vieites, A, Yavaş, Z, Faisal Ahmed, S & Krone, N 2022, ' Analysis of therapy monitoring in the International Congenital Adrenal Hyperplasia Registry ', Clinical Endocrinology, vol. 97, no. 5, pp. 551-561 . https://doi.org/10.1111/cen.14796
Scientia
Clinical Endocrinology, 97(5), 551-561. Wiley-Blackwell

Funder: European Society for Paediatric Endocrinology Research Unit
OBJECTIVE: Congenital adrenal hyperplasia (CAH) requires exogenous steroid replacement. Treatment is commonly monitored by measuring 17-OH progesterone (17OHP) and androstenedio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af9b36d82eac4a4fadb9fe4277d9926c
https://doi.org/10.1111/cen.14796

Frequency of genetic polymorphisms of PXR gene in the Brazilian population

Autor: Ricardo P. P. Moreira, Alexander A. L. Jorge, Berenice B. Mendonca, Tânia A. S. S. Bachega

Publikováno v: Clinics, Vol 66, Iss 6, Pp 1041-1044 (2011)

INTRODUCTION: PXR polymorphisms have been implicated in modulating CYP3A4 and PXR expression, potentially accounting for interindividual differences in drug metabolism. The prevalence of PXR polymorphisms varies among ethnic groups and data on the al

Externí odkaz: https://doaj.org/article/f4783496c7db4a609bc819c74e46ba92

PSAT072 Clinical Features of Patients with 21-Hydroxylase Deficiency and Testicular Adrenal Rest Tumors

Autor: Tânia A S S Bachega, Fernanda C Costa, Guiomar Madureira, Berenice B Mendonca, Mirela C Miranda

Publikováno v: Journal of the Endocrine Society. 6:A113-A113

Testicular adrenal rest tumors (TARTs) are one of the most frequent comorbidities in males with 21-hydroxylase deficiency (CAH) and different prevalence rates have been reported. TART still present difficult control and frequently lead to infertility

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::132d8a52aca78c276bd81177d6821ade
https://doi.org/10.1210/jendso/bvac150.230

[Multicentric study of Brazilian patients with 21-hydroxylase deficiency: a genotype-phenotype correlation]

Autor: Tânia A S S, Bachega, Ana Elisa C, Billerbeck, Erica B, Parente, Sofia H V, Lemos-Marini, Maria Tereza M, Baptista, Maricilda P, Mello, Gil, Guerra, Hilton, Kuperman, Nuvarte, Setian, Durval, Damiani, Natália, Torres, Margaret de, Castro, Berenice B de, Mendonça

Publikováno v: Arquivos brasileiros de endocrinologia e metabologia. 48(5)

We analyzed the clinical and molecular data of 205 patients with the three different clinical forms of 21-hydroxylase deficiency, in whom the clinical and molecular diagnosis were already defined. The most frequent mutations were I2 splice in the sal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7255521e67897e159d1b20d4ba358e3f
https://pubmed.ncbi.nlm.nih.gov/15761541