Caracterização molecular de Oligozoospermia grave e Azoospermia não obstrutiva

• Ano de defesa: 2019
• Autor(a) principal: Vilela, Caio Graco Bruzaca Almeida [UNIFESP]
• Tipo de documento: Dissertação
• Tipo de acesso: Acesso aberto
• Idioma: por
• Instituição de defesa: Universidade Federal de São Paulo (UNIFESP)
• Palavras-chave em Português: Male Infertility; Molecular Biology; Synaptonemic Complex; Inferitlidade Masculina; Biologia Molecular; Complexo Sinaptonêmico
• Link de acesso: https://sucupira.capes.gov.br/sucupira/public/consultas/coleta/trabalhoConclusao/viewTrabalhoConclusao.jsf?popup=true&id_trabalho=7830153; https://repositorio.unifesp.br/handle/11600/59435

Many cases of male infertility present an undetermined etiology, even after exhaus-tive clinical and laboratory investigations. An association between male infertility and the synaptonemic complex genes responsible for meiosis synapse is observed. In this context, this study aims to describe variants in genes related to the synap-tonemic complex. Next generation sequencing was performed comprising the SYCP1, SYCP2, SYCP2L and SYCP3 genes. A sample of 14 chromosomal males was assessed, categorized into four groups: nonobstructive azoospermic, cryptozoo-spermic, severely oligozoospermic and normozoothermic (control). No significant dif-ference was observed between the groups using dependent variables related to physical and hormonal examinations, except for mean testicular volume. Three vari-ants of uncertain significance were observed in the SYCP2 gene of the cryptozoo-spermic group. No pathogenic or potentially pathogenic variants were observed in the other assessed genes, both in controls and in patients presenting idiopathic male infertility. Thus, three new variants associated to the SYCP2 gene were added to male infertility cases and benign variants in normozoospermic fertile controls were confirmed.