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Nueva variante del gen STAG3 causante de insuficiencia ovárica prematura

OBJECTIVES: To describe a case of ovarian failure secondary to a homozygous pathogenic variant in the STAG3 gene not previously reported. MATERIAL AND METHODS: A 16-year-old patient with primary amenorrhea and absence of secondary sexual characteristics, with documented autoimmune hypothyroidism, po...

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Detalles Bibliográficos
Autores principales: Gómez-Rojas, Susana, Aristizábal-Duque, Jorge Enrique, Muñoz-Fernández, Luisa Fernanda, Sarmiento-Ramón, María Paula, Pereira-Gómez, María del Pilar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Federación Colombiana de Obstetricia y Ginecología; Revista Colombiana de Obstetricia y Ginecología 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9097685/
https://www.ncbi.nlm.nih.gov/pubmed/35503298
http://dx.doi.org/10.18597/rcog.3806
Descripción
Sumario:OBJECTIVES: To describe a case of ovarian failure secondary to a homozygous pathogenic variant in the STAG3 gene not previously reported. MATERIAL AND METHODS: A 16-year-old patient with primary amenorrhea and absence of secondary sexual characteristics, with documented autoimmune hypothyroidism, poor genital and gonadal streak development which prompted the performance of clinical exorne sequencing. A homozygous pathogenic variant not previously reported in the STAG3 gene, which has been associated with premature ovarian insufficiency (POI), was identified. CONCLUSIONS: In this case, clinical exorne sequencing was key for identifying a STAG gene abnormality, probably associated with POI and long term prognosis for the patient. A new pathogenic variant c.2773delT; p.Ser925Profs*6 of the STAG3 gene associated with POI was established.