Banca de DEFESA: Gabriela Corassa Rodrigues da Cunha

Uma banca de DEFESA de DOUTORADO foi cadastrada pelo programa.
STUDENT : Gabriela Corassa Rodrigues da Cunha
DATE: 19/09/2024
TIME: 09:00
LOCAL: Híbrido. Auditório 2 FS
TITLE:

Exome Sequencing in Patients with clinical suspicion of Mayer-Rokitansky-Küster-Hauser Syndrome

KEY WORDS:

Rokitansky Syndrome, Müllerian malformation, MRKH, CMA, Exome.

PAGES: 100
BIG AREA: Ciências da Saúde
AREA: Medicina
SUMMARY:

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 five patients, no relevant alterations were identified through this methodology. In four unrelated MRKH women, the same heterozygous variant was identified in the WT1 gene. Additionally, variants in other genes were identified, including two pathogenic variants, four possibly pathogenic variants, three variants of uncertain significance, one possibly benign variant, and one benign variant. 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.

COMMITTEE MEMBERS:
Externa à Instituição - CAROLA CHEROKI
Interna - 2329402 - ANGELICA AMORIM AMATO
Presidente - 2731816 - JULIANA FORTE MAZZEU DE ARAUJO
Externo ao Programa - 3117461 - ROLANDO ANDRE RIOS VILLACIS - nullExterna à Instituição - SHÉLIDA VASCONCELOS BRAZ - UFMA