Title:	Sequenciamento de exoma em pacientes com suspeita clínica de Síndrome de Mayer-Rokitansky-Küster-Hauser
Authors:	Cunha, Gabriela Corassa Rodrigues da
Orientador(es)::	Araújo, Juliana Forte Mazzeu de
Assunto::	Síndrome de Rokitansky Malformação mulleriana Exoma Síndrome de Mayer-Rokitansky-Küster-Hauser
Issue Date:	16-Jan-2025
Data de defesa::	19-Sep-2024
Citation:	CUNHA, Gabriela Corassa Rodrigues da. Sequenciamento de exoma em pacientes com suspeita clínica de Síndrome de Mayer-Rokitansky-Küster-Hauser. 2024. 100 f. Tese (Doutorado em Ciências da Saúde) — Universidade de Brasília, Brasília, 2024.
Abstract:	The Mayer-Rokitansky-Küster-Hauser Syndrome (MRKH) is characterized by agenesis/hypoplasia of the uterus and the upper third of the vagina. Affected women exhibit the development of secondary sexual characteristics and have a normal female karyotype. Although its etiology remains unknown, the hypothesis that genetic components are involved is supported by the presence of familial aggregation. The present study aimed to investigate genetic alterations associated with the etiology of MRKH using exome sequencing. A total of 18 women with a clinical suspicion of MRKH, who were treated at the Medical Genetics Outpatient Clinic of the University Hospital of Brasília, were selected. Among the patients evaluated, 12 received a confirmed diagnosis of MRKH, two were diagnosed with conditions that are part of the differential diagnosis, and four did not meet the necessary criteria for diagnosing MRKH. Exome sequencing was performed on all patients and allowed the conclusion of the diagnosis in two cases, one being diagnosed with CHARGE Syndrome and the other with Androgen Insensitivity Syndrome. In six patients, no relevant genetic alterations were identified. In four unrelated MRKH women, the same heterozygous variant was identified in the WT1 gene. Additionally, two pathogenic variants were found: one in the CHD7 gene and a 7q11.23 duplication. Four likely pathogenic variants were also identified in the SPEN, KYNU, AR, and HOXA1 genes; five variants of uncertain significance, including alterations in the ESR1, RET, WNT4, and MAMLD1 genes, as well as a 6q14.3 deletion; and one likely benign variant in GLI3 gene. The search and identification of genetic alterations that contribute to the development of the syndrome may aid in understanding its etiology, improving diagnosis, management, and counseling. Furthermore, it may contribute to knowledge regarding the development of the female reproductive tract.
metadata.dc.description.unidade:	Faculdade de Ciências da Saúde (FS)
Description:	Tese (doutorado) — Universidade de Brasília, Faculdade de Ciências da Saúde, Programa de Pós-Graduação em Ciências da Saúde, 2024.
metadata.dc.description.ppg:	Programa de Pós-Graduação em Ciências da Saúde
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Agência financiadora:	Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES), Fundação de Apoio à Pesquisa do Distrito Federal (FAPDF)
Appears in Collections:	Teses, dissertações e produtos pós-doutorado

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