PAPSS2 gene molecular analysis in 46,XX patients with idiopathic hyperandrogenism
Androgen excess is the most common endocrine disorder of adult women. Polycystic ovary syndrome and idiopathic hyperandrogenism (IH) are the first and the second most common androgen disorder, respectively. Women with IH may present with hirsutism, ovulatory dysfunction, infertility and even viriliz...
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Universidade Estadual de Campinas
2019
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| Online Access: | https://econtents.sbu.unicamp.br/eventos/index.php/pibic/article/view/862 |
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| author | Santos, Luana Gavioli dos Guaragna, Mara Sanches Mazzola, Taís N. Marini, Sofia Helena Valente de Lemos Guerra Júnior, Gil Mello, Maricilda Palandi de |
| author_facet | Santos, Luana Gavioli dos Guaragna, Mara Sanches Mazzola, Taís N. Marini, Sofia Helena Valente de Lemos Guerra Júnior, Gil Mello, Maricilda Palandi de |
| author_sort | Santos, Luana Gavioli dos |
| collection | Portal de Eventos Científicos da UNICAMP |
| container_reference | Revista dos Trabalhos de Iniciação Científica da UNICAMP; n. 26 (2018): Congresso de Iniciação Científica Unicamp |
| description | Androgen excess is the most common endocrine disorder of adult women. Polycystic ovary syndrome and idiopathic hyperandrogenism (IH) are the first and the second most common androgen disorder, respectively. Women with IH may present with hirsutism, ovulatory dysfunction, infertility and even virilization and masculinization. Mutations in PAPSS2 gene were recently published as a genetic cause of IH. Therefore, the aim of this study was to analyse the PAPSS2 gene sequence in 10 patients with diagnosis of IH.After PAPSS2 gene Sanger sequencing in ten IH patients, no pathogenic variants were identified. We identified rare heterozygous SNVs in three patients, however they are present in databases with no correlation with androgen excess. |
| first_indexed | 2025-10-08T13:52:24Z |
| format | Online |
| id | ojs-article-862 |
| institution | Universidade Estadual de Campinas |
| issn | 2596-1969 |
| language | eng |
| last_indexed | 2025-10-08T13:52:24Z |
| publishDate | 2019 |
| publisher | Universidade Estadual de Campinas |
| record_format | ojs |
| spelling | ojs-article-8622025-09-26T14:32:30Z PAPSS2 gene molecular analysis in 46,XX patients with idiopathic hyperandrogenism Santos, Luana Gavioli dos Guaragna, Mara Sanches Mazzola, Taís N. Marini, Sofia Helena Valente de Lemos Guerra Júnior, Gil Mello, Maricilda Palandi de Idiopathic hyperandrogenism PAPSS2 gene Single nucleotide variants. Androgen excess is the most common endocrine disorder of adult women. Polycystic ovary syndrome and idiopathic hyperandrogenism (IH) are the first and the second most common androgen disorder, respectively. Women with IH may present with hirsutism, ovulatory dysfunction, infertility and even virilization and masculinization. Mutations in PAPSS2 gene were recently published as a genetic cause of IH. Therefore, the aim of this study was to analyse the PAPSS2 gene sequence in 10 patients with diagnosis of IH.After PAPSS2 gene Sanger sequencing in ten IH patients, no pathogenic variants were identified. We identified rare heterozygous SNVs in three patients, however they are present in databases with no correlation with androgen excess. Universidade Estadual de Campinas 2019-02-12 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Artigo de convidado application/pdf https://econtents.sbu.unicamp.br/eventos/index.php/pibic/article/view/862 10.20396/revpibic262018862 Revista dos Trabalhos de Iniciação Científica da UNICAMP; n. 26 (2018): Congresso de Iniciação Científica Unicamp 2596-1969 eng https://econtents.sbu.unicamp.br/eventos/index.php/pibic/article/view/862/932 Copyright (c) 2019 Luana Gavioli dos Santos, Mara Sanches Guaragna http://creativecommons.org/licenses/by/4.0 |
| spellingShingle | Santos, Luana Gavioli dos Guaragna, Mara Sanches Mazzola, Taís N. Marini, Sofia Helena Valente de Lemos Guerra Júnior, Gil Mello, Maricilda Palandi de Idiopathic hyperandrogenism PAPSS2 gene Single nucleotide variants. PAPSS2 gene molecular analysis in 46,XX patients with idiopathic hyperandrogenism |
| title | PAPSS2 gene molecular analysis in 46,XX patients with idiopathic hyperandrogenism |
| title_full | PAPSS2 gene molecular analysis in 46,XX patients with idiopathic hyperandrogenism |
| title_fullStr | PAPSS2 gene molecular analysis in 46,XX patients with idiopathic hyperandrogenism |
| title_full_unstemmed | PAPSS2 gene molecular analysis in 46,XX patients with idiopathic hyperandrogenism |
| title_short | PAPSS2 gene molecular analysis in 46,XX patients with idiopathic hyperandrogenism |
| title_sort | papss2 gene molecular analysis in 46,xx patients with idiopathic hyperandrogenism |
| topic | Idiopathic hyperandrogenism PAPSS2 gene Single nucleotide variants. |
| url | https://econtents.sbu.unicamp.br/eventos/index.php/pibic/article/view/862 |
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